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Rhabdomyosarcoma
Kinds of Rhabdomyosarcoma Selected AbstractsBlueberry muffin rash as a presentation of alveolar cell rhabdomyosarcoma in a neonateACTA PAEDIATRICA, Issue 1 2000SV Godambe Soft tissue sarcomas of childhood continue to present problems with pathologic diagnosis, staging and treatment. Rhabdomyosarcoma, the most common soft tissue sarcoma, represents 4,8% of all malignant solid tumours in children. We report a case of congenital alveolar rhabdomyosarcoma who presented with "blueberry muffin"-like rash. A full-term female infant was noted at birth to have multiple skin lesions resembling blueberry muffin rash and an abdominal mass in the left iliac fossa, which appeared to be fixed to the posterior abdominal wall. There was no enlargement of liver and spleen, but her para-aortic lymph nodes were enlarged. Biopsy from the mass confirmed the diagnosis of alveolar cell rhabdomyosarcoma. Molecular investigation for the t (2:13) translocation was negative. The infant received chemotherapy but died within 1 mo of diagnosis. [source] Primary Cutaneous Rhabdomyosarcoma in an AdultDERMATOLOGIC SURGERY, Issue 10 2009BENGU COBANOGLU MD No abstract is available for this article. [source] Role of immunocytochemistry and DNA flow cytometry in the fine-needle aspiration diagnosis of malignant small round-cell tumorsDIAGNOSTIC CYTOPATHOLOGY, Issue 4 2001Urmil Brahmi M.Sc. Abstract In the present study, DNA flow cytometry (FCM) and immunocytochemistry (ICC) with a selected panel of antibodies were performed on 51 cases of malignant tumors which were referred for fine-needle aspiration biopsy (FNAB) to our Department of Cytology for the last 2 yr. Twelve cases were diagnosed as neuroblastoma, 16 as Ewing's sarcoma, 2 as retinoblastoma, 5 as non-Hodgkin's lymphoma (NHL), 5 as rhabdomyosarcoma, 2 as peripheral neuroectodermal tumors (PNETs), and 8 as Wilms' tumor. Eleven of 12 neuroblastomas were diploid by FCM, and 1 was aneuploid, with an S-phase fraction (SPF) of 8.3%. Neuron-specific enolase (NSE) was negative in 3 and positive in 8 cases of neuroblastoma, whereas neuroblastoma marker was positive in 3/11. Sixteen of 17 Ewing's sarcomas were diploid, and 1 showed tetraploid aneuploidy, with an SPF of 10.06%. Eight of 13 Ewing's sarcomas were positive for Mic-2 gene product (Ewing's marker). All 5 NHL were positive for leukocyte-common antigen (LCA). Three of 5 rhabdomyosarcomas were diploid, and 2 cases showed aneuploidy. Rhabdomyosarcoma showed muscle-specific actin positivity in 4 and desmin positivity in 3 cases. All 3 cases of PNET were diploid and positive for the Mic-2 gene product, whereas NSE and vimentin were positive in 2 cases. Both cases of retinoblastoma were diploid. Immunostaining was noncontributory in 1 case, and the other showed positivity for the retinoblastoma gene product, NSE, and chromogranin. Seven of 8 Wilms' tumors were diploid, and 1 showed aneuploid, with an SPF of 11.13%. Seven of 8 Wilms' tumors were positive for cytokeratin (CK), 5 were positive for NSE, 6 were positive for epithelial membrane antigen (EMA), and 5 were positive for vimentin. FNAB diagnosis of malignant round-cell tumors is difficult only by light microscopy. Due to the availability of specific markers for subgrouping tumors, ICC has proved to be more useful these days, while DNA FCM has little diagnostic value, as most of them are diploid. Further ancillary studies, e.g., electron microscopy, image analysis, and other molecular investigations, are required to further categorize these tumors more precisely for better clinical management of these cases. Diagn. Cytopathol. 24:233,239, 2001. © 2001 Wiley-Liss, Inc. [source] Rhabdomyosarcoma of the mandible in a 6-year-old boyINTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 4 2006L. E. DAVIDSON Summary., Introduction., Rhabdomyosarcoma is an aggressive malignant tumour composed of neoplastic mesenchymal cells that infiltrate surrounding tissue structures, making their precise site of origin unclear. Although rare, this is highly aggressive and the most common soft-tissue neoplasm of the head and neck in children. Regrettably by the time most cases are initially seen, the patients already have large tumours, due to rapid tumour growth and delayed medical consultation. Case Report., This report describes a 6-year-old presenting with just such symptoms of facial swelling and pain but elicitation of further information and findings, including tooth mobility of 3 days duration, led to prompt referral and early treatment of an embryonal rhabdomyosarcoma. Conclusion., General dental practitioners are frequently presented with a child with a swollen face and pain. Experience would suggest a dental abscess to be the most likely cause with treatment as appropriate. However, all swellings in children, should be thoroughly investigated and reviewed as particularly in this age group, tumour growth is rapid while early diagnosis allows successful treatment with multimodality therapy. [source] A Metastatic Alveolar Rhabdomyosarcoma of the HandPEDIATRIC BLOOD & CANCER, Issue 1 2006G. Seifert No abstract is available for this article. [source] Role of surgery in children with rhabdomyosarcoma,PEDIATRIC BLOOD & CANCER, Issue 1 2003Erica L. Schalow MD Abstract Background Rhabdomyosarcoma (RMS) is a common soft tissue sarcoma of childhood. Historically, surgery has played a central role in the management of children with this tumor, though with surgery alone survival rates were poor. With current multimodal (surgery, radiotherapy and chemotherapy) treatment of these patients, survival has dramatically improved and, with this improvement, there has been an evolution of the role of surgery in the management of this condition. Material and Method The contemporary published literature (English) regarding surgical aspects of pediatric rhabdomyosarcoma was reviewed and evaluated. Results Multimodal therapy has improved the survival of children with RMS from 25% in 1970 to greater than 70% today. Surgical procedures for childhood RMS today are less apt to be exenterative or multilating than those employed thirty years ago. Conclusions Surgery plays a vital role in the diagnosis and treatment of children with RMS. This role has evolved in the context of multimodal therapy and improved survival to an emphasis on less radical procedures with decreased morbidity. Med Pediatr Oncol 2003;41:1,6. © 2003 Wiley-Liss, Inc. [source] Primary Embryonal Rhabdomyosarcoma of the Breast in an Adult FemaleTHE BREAST JOURNAL, Issue 3 2005Antoine Italiano MD No abstract is available for this article. [source] Rhabdomyosarcoma: Value of myogenin expression analysis and molecular testing in diagnosing the alveolar subtypeCANCER, Issue 12 2004An analysis of 109 paraffin-embedded specimens Abstract BACKGROUND Identification of the alveolar subtype of rhabdomyosarcoma (ARMS) is important, because the poor prognosis associated with this subtype necessitates a modified therapeutic regimen. At present, ARMS diagnoses are made on the basis of histologic findings and the extent of myogenin immunopositivity. Nonetheless, the absence of an alveolar pattern in the solid variant, the low degree of differentiation in certain embryonal rhabdomyosarcomas (ERMS), and the increasing use of microbiopsy samples make the diagnosis of ARMS somewhat difficult. Two specific translocations have been found in ARMS, and fusion transcripts can be detected by reverse transcriptase,polymerase chain reaction (RT-PCR) analysis of paraffin-embedded tissue (PET). METHODS To assess the value of myogenin staining and molecular testing in the diagnosis of rhabdomyosarcoma, the authors examined 109 rhabdomyosarcoma samples (45 ARMS samples and 64 ERMS samples). Real-time RT-PCR analysis of PET was performed in all 109 rhabdomyosarcomas, and RT-PCR analysis of frozen material was performed in 24 cases. RESULTS PAX fusion transcripts were present in 44 cases (39 ARMS and 5 ERMS) and absent in 52 cases (2 ARMS and 50 ERMS). In 13 cases (4 ARMS and 9 ERMS), the results were not interpretable. Results were concordant between paired frozen and fixed tumor samples. All 35 interpretable ERMS samples that contained < 50% myogenin-positive cells failed to yield detectable PAX fusion transcripts. Of the 61 interpretable tumor samples (41 ARMS and 20 ERMS) that contained > 50% myogenin-positive cells, 44 (39 ARMS and 5 ERMS) yielded detectable PAX fusion transcripts. CONCLUSIONS The current study demonstrates that molecular detection of PAX fusion transcripts via real-time RT-PCR analysis of PET is a sensitive and specific method for the diagnosis of ARMS and that immunohistochemical analysis of myogenin expression can be used to select cases for such molecular testing. Although RT-PCR analysis appears not to possess diagnostic value in tumors with < 50% tumor cell immunopositivity, it is strongly recommended for the diagnosis of tumors containing > 50% myogenin-positive cells. Cancer 2004. © 2004 American Cancer Society. [source] Genomic imbalances in rhabdomyosarcoma cell lines affect expression of genes frequently altered in primary tumors: An approach to identify candidate genes involved in tumor developmentGENES, CHROMOSOMES AND CANCER, Issue 6 2009Edoardo Missiaglia Rhabdomyosarcomas (RMS) are the most common pediatric soft tissue sarcomas. They resemble developing skeletal muscle and are histologically divided into two main subtypes; alveolar and embryonal RMS. Characteristic genomic aberrations, including the PAX3 - and PAX7-FOXO1 fusion genes in alveolar cases, have led to increased understanding of their molecular biology. Here, we determined the effect of genomic copy number on gene expression levels through array comparative genomic hybridization (CGH) analysis of 13 RMS cell lines, confirmed by multiplex ligation-dependent probe amplification copy number analyses, combined with their corresponding expression profiles. Genes altered at the transcriptional level by genomic imbalances were identified and the effect on expression was proportional to the level of genomic imbalance. Extrapolating to a public expression profiling dataset for 132 primary RMS identified features common to the cell lines and primary samples and associations with subtypes and fusion gene status. Genes identified such as CDK4 and MYCN are known to be amplified, overexpressed, and involved in RMS tumorigenesis. Of the many genes identified, those with likely functional relevance included CENPF, DTL, MYC, EYA2, and FGFR1. Copy number and expression of FGFR1 was validated in additional primary material and found amplified in 6 out of 196 cases and overexpressed relative to skeletal muscle and myoblasts, with significantly higher expression levels in the embryonal compared with alveolar subtypes. This illustrates the ability to identify genes of potential significance in tumor development through combining genomic and transcriptomic profiles from representative cell lines with publicly available expression profiling data from primary tumors. © 2009 Wiley-Liss, Inc. [source] You can win by losing: p53 mutations in rhabdomyosarcomas,THE JOURNAL OF PATHOLOGY, Issue 2 2010Sean M Post Abstract Rhabdomyosarcomas are soft tissue sarcomas of mesenchymal origin. Unlike rhabdomyosarcomas observed in paediatric patients which typically respond well to chemotherapeutic treatment, adults generally present with pleomorphic rhabdomyosarcomas that are typically associated with poor prognosis. Therefore, understanding the molecular biology that gives rise to pleomorphic rhabdomyosarcomas is critical. In this issue of The Journal of Pathology, Doyle and colleagues have generated elegant tissue-specific Cre/loxP-dependent mouse models that mimic pleomorphic rhabdomyosarcoma development in humans. In this report, the authors employed KRasG12V -expressing mouse models that concomitantly either express mutant p53 (p53R172H) or have deleted the p53 gene. Mice that express mutant p53 have decreased survival with development of aggressive metastases as compared to mice that have simply lost wild-type p53. The data presented herein provide the first in vivo evidence that in rhabdomyosarcomas, expression of mutant p53 results in a more aggressive p53R172H-dependent gain-of-function phenotype. Copyright © 2010 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Invited Commentary for Doyle B et al.p53 mutation and loss have different effects on tumourigenesis in a novel mouse model of pleomorphic rhabdomyosarcoma. Journal of Pathology, 2010; 222: 129,137. [source] Blueberry muffin rash as a presentation of alveolar cell rhabdomyosarcoma in a neonateACTA PAEDIATRICA, Issue 1 2000SV Godambe Soft tissue sarcomas of childhood continue to present problems with pathologic diagnosis, staging and treatment. Rhabdomyosarcoma, the most common soft tissue sarcoma, represents 4,8% of all malignant solid tumours in children. We report a case of congenital alveolar rhabdomyosarcoma who presented with "blueberry muffin"-like rash. A full-term female infant was noted at birth to have multiple skin lesions resembling blueberry muffin rash and an abdominal mass in the left iliac fossa, which appeared to be fixed to the posterior abdominal wall. There was no enlargement of liver and spleen, but her para-aortic lymph nodes were enlarged. Biopsy from the mass confirmed the diagnosis of alveolar cell rhabdomyosarcoma. Molecular investigation for the t (2:13) translocation was negative. The infant received chemotherapy but died within 1 mo of diagnosis. [source] Role of ataxia telangiectasia mutated in insulin signalling of muscle-derived cell lines and mouse soleusACTA PHYSIOLOGICA, Issue 4 2010I. Jeong Abstract Aim:, Ataxia telangiectasia mutated (ATM) reportedly plays a role in insulin-stimulated activation of Akt in some cell types but not in others. The role of ATM in insulin signalling has not been firmly resolved for skeletal muscle cells, for which Akt phosphorylation is a pivotal step in stimulation of glucose transport. Accordingly, our aim was to determine the role of ATM in insulin effects for cell lines derived from skeletal muscle and for skeletal muscle. Methods:, We examined insulin effects in L6 myotubes, mouse soleus, C2C12 myotubes and differentiated rhabdomyosarcoma (RD) cells in the presence and absence of a low concentration (1 ,m) of the ATM inhibitor KU55933. We also compared insulin signalling in C2C12 cells expressing shRNA against ATM and control cell lines (empty vector; cells expressing non-targeting shRNA). Results:, In L6 myotubes and mouse soleus muscle, KU55933 inhibited insulin-stimulated phosphorylation of the 160 kDa substrate of Akt (AS160) despite no effect on Akt. In contrast, KU55933 prevented insulin-stimulated Akt phosphorylation in C2C12 myotubes. Furthermore, C2C12 myotubes expressing shRNA against ATM displayed reduced insulin-stimulated Akt phosphorylation compared to controls. KU55933 also decreased insulin-stimulated Akt phosphorylation in differentiated RD cells. Conclusion:, These model-dependent differences in the role of ATM in insulin action demonstrate a role of ATM in insulin-stimulated phosphorylation of Akt (in C2C12 and RD cells) but also allow the elucidation of a novel, Akt-independent role of ATM (in L6 myotubes and mouse soleus, at the level of AS160) in insulin signalling. [source] Increased fat oxidation and regulation of metabolic genes with ultraendurance exerciseACTA PHYSIOLOGICA, Issue 1 2007J. W. Helge Abstract Aim:, Regular endurance exercise stimulates muscle metabolic capacity, but effects of very prolonged endurance exercise are largely unknown. This study examined muscle substrate availability and utilization during prolonged endurance exercise, and associated metabolic genes. Methods:, Data were obtained from 11 competitors of a 4- to 5-day, almost continuous ultraendurance race (seven males, four females; age: 36 ± 11 years; cycling o2peak: males 57.4 ± 5.9, females 48.1 ± 4.0 mL kg,1 min,1). Before and after the race muscle biopsies were obtained from vastus lateralis, respiratory gases were sampled during cycling at 25 and 50% peak aerobic power output, venous samples were obtained, and fat mass was estimated by bioimpedance under standardized conditions. Results:, After the race fat mass was decreased by 1.6 ± 0.4 kg (11%; P < 0.01). Respiratory exchange ratio at the 25 and 50% workloads decreased (P < 0.01) from 0.83 ± 0.06 and 0.93 ± 0.03 before, to 0.71 ± 0.01 and 0.85 ± 0.02, respectively, after the race. Plasma fatty acids were 3.5 times higher (from 298 ± 74 to 1407 ± 118 ,mol L,1; P < 0.01). Muscle glycogen content fell 50% (from 554 ± 28 to 270 ± 25 nmol kg,1 d.w.; n = 7, P < 0.01), whereas the decline in muscle triacylglycerol (from 32 ± 5 to 22 ± 3 mmol kg,1 d.w.; P = 0.14) was not statistically significant. After the race, muscle mRNA content of lipoprotein lipase and glycogen synthase increased (P < 0.05) 3.9- and 1.7-fold, respectively, while forkhead homolog in rhabdomyosarcoma, pyruvate dehydrogenase kinase 4 and vascular endothelial growth factor mRNA tended (P < 0.10) to be higher, whereas muscle peroxisome proliferator-activated receptor , co-activator-1, mRNA tended to be lower (P = 0.06). Conclusion:, Very prolonged exercise markedly increases plasma fatty acid availability and fat utilization during exercise. Exercise-induced regulation of genes encoding proteins involved in fatty acid recruitment and oxidation may contribute to these changes. [source] Difficulties in diagnosing small round cell tumours of childhood from fine needle aspiration cytology samplesCYTOPATHOLOGY, Issue 2 2008ekArticle first published online: 18 MAR 200, iva Pohar-Marin There are four basic reasons for the difficulties in diagnosing small round cell tumours (SRCT) in childhood from fine needle aspiration cytology (FNAC) samples. First, SRCTs are rare and it is difficult for cytopathologists to obtain enough experience for rendering reliable diagnoses. Second, SRCTs are morphologically very similar. Third, many SRCTs do not have specific antigens which could be demonstrated with immunocytochemistry (ICC) or they lose them when poorly differentiated. In addition, cross reactivity exists between some SRCTs. Unstandardized performance of ICC also contributes to the difficulties due to unreliable results. Fourth, suboptimal FNAC samples add additional pitfalls. The latter may be due to partly degenerate samples or to unrepresentative ones in cases where a SRCT is a heterologous component of another nosological entity. Lymphoma, neuroblastoma, nephroblastoma, Ewing's tumour/primitive neuroendocrine tumours and rhabdomyosarcoma are discussed in detail, while other less common SRCTs are mentioned as differential diagnoses when appropriate. The use of cytogenetic and molecular techniques for differentiating between certain SRCTs is helpful in some doubtful cases. However, there are still problems in the use of these techniques, especially their cost which may delay their being introduced in every cytopathology laboratory. [source] Cytomorphological study of soft tissue neoplasms: role of fluorescent immunocytochemistry in diagnosisCYTOPATHOLOGY, Issue 5 2005B. Rekhi Objectives:, Exact categorization of soft tissue tumours (STTs) on smears requires application of various ancillary techniques. This study was aimed at evaluating the role of fluorescent immunocytochemistry (FICC) in cyto-diagnosis of 30 STT cases. Methods:, Thirty cases of soft tissue tumours were included in the present study. All cases were subjected to routine Giemsa and Papanicolaou stain. Extra smears were made and kept for fluorescent immunostaining. A panel of cytoskeletal antibodies, tagged with FITC (Fluorescein isothyocynate), was employed in all these cases. Fluorescent immunostained smears were examined under Zeiss Confocal Laser scanning microscope, using double immunofluorescence (red-green). Finally, all cases were subjected to biopsy and again immunoperoxidase staining. Results:, Among the 30 cases in the present study, unaided cytological diagnoses ranged from ,spindle cell' tumour in four (13.3%) cases, benign and malignant spindle cell tumour in 17 (56.6%) cases, to malignant mesenchymal tumour in nine (30%) cases. FICC helped in further correct categorization of 25/30 (83.3%) cases viz. leiomyoma (three), benign neurogenic tumour (six), schwannoma (one), dermatofibrosarcoma protuberans (three), synovial sarcoma (two), rhabdomyosarcoma (two), malignant fibrous histiocytoma (five) and malignant peripheral nerve sheath tumour (three). Aggressive fibromatosis was found to be a missed diagnosis in two cases. Overall concordance between cyto-diagnosis with FICC, and histopathology results was 83.3% (P < 0.05). Conclusion:, Fluorescent immunocytochemistry is a significant ancillary technique for making a rapid and specific diagnosis of STT, as required for their timely management. Incorporation of a wide panel of antibody markers with clinico-cytological correlation is recommended in forming an exact diagnosis in these cases. [source] Fine-needle aspiration diagnosis of a metastatic adult sclerosing rhabdomyosarcoma in a lymph nodeDIAGNOSTIC CYTOPATHOLOGY, Issue 10 2010Richard L. Cantley M.D. Abstract Adult sclerosing rhabdomyosarcoma (ASRMS) is a rare variant of rhabdomyosarcoma with a characteristic histological appearance of small, round cells in a dense, hyalinized stroma. Although nodal metastases of soft-tissue sarcomas are considered uncommon, up to 5% overall are associated with lymph node metastases. Nonetheless, there is little literature on the cytologic characteristics of metastatic soft-tissue sarcomas in lymph nodes, and to our knowledge, there are no reports of nodal metastasis of ASRMS diagnosed by fine-needle aspiration (FNA) cytology. We report here a 55-year-old woman who presented with a right thigh mass and associated ipsilateral inguinal lymphadenopathy. Biopsy of the mass revealed a uniform population of small, round cells in a dense, sclerotic background. A diagnosis of ASRMS was rendered. Subsequently, the patient underwent FNA of an enlarged inguinal lymph node, which revealed an identical population of small, round cells in a dense, myxoid background. This case highlights the cytologic features of a rare form of rhabdomyosarcoma, and emphasizes the utility of FNA in the assessment of lymphadenopathy in the setting of a soft-tissue sarcoma. Diagn. Cytopathol. 2010;38:761,764. © 2010 Wiley-Liss, Inc. [source] Diagnosis of metastatic pancreatic mesenchymal tumors by endoscopic ultrasound-guided fine-needle aspiration,DIAGNOSTIC CYTOPATHOLOGY, Issue 11 2009Linda Varghese M.D. Abstract Involvement of the pancreas by metastatic sarcoma is rare, and can prove challenging to differentiate from sarcomatoid carcinomas which occur more commonly. The endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) technique has been successfully used for the diagnosis of pancreatic carcinomas whether primary or metastatic, and is now considered the most effective noninvasive method for the identification of pancreatic metastases. However, to date very few reports detail the diagnosis of mesenchymal neoplasms by EUS-FNA. Herein, we report a series of four patients who underwent EUS-FNA of the pancreas, where the diagnosis of metastatic sarcoma was made based on morphology and ancillary studies. The cases include metastases of leiomyosarcoma, liposarcoma, alveolar rhabdomyosarcoma, and solitary fibrous tumor. The history of a primary sarcoma of the chest wall, mediastinum, and respectively lower extremity was known for the first three of these patients while in the case of the solitary fibrous tumor a remote history of a paraspinal "hemangiopericytoma" was only elicited after the EUS-FNA diagnosis was made. We conclude that EUS-FNA is efficient and accurate in providing a diagnosis of sarcoma, even in patients without a known primary sarcoma, thus allowing institution of therapy without additional biopsies. Diagn. Cytopathol. 2009. © 2009 Wiley-Liss, Inc. [source] Role of immunocytochemistry and DNA flow cytometry in the fine-needle aspiration diagnosis of malignant small round-cell tumorsDIAGNOSTIC CYTOPATHOLOGY, Issue 4 2001Urmil Brahmi M.Sc. Abstract In the present study, DNA flow cytometry (FCM) and immunocytochemistry (ICC) with a selected panel of antibodies were performed on 51 cases of malignant tumors which were referred for fine-needle aspiration biopsy (FNAB) to our Department of Cytology for the last 2 yr. Twelve cases were diagnosed as neuroblastoma, 16 as Ewing's sarcoma, 2 as retinoblastoma, 5 as non-Hodgkin's lymphoma (NHL), 5 as rhabdomyosarcoma, 2 as peripheral neuroectodermal tumors (PNETs), and 8 as Wilms' tumor. Eleven of 12 neuroblastomas were diploid by FCM, and 1 was aneuploid, with an S-phase fraction (SPF) of 8.3%. Neuron-specific enolase (NSE) was negative in 3 and positive in 8 cases of neuroblastoma, whereas neuroblastoma marker was positive in 3/11. Sixteen of 17 Ewing's sarcomas were diploid, and 1 showed tetraploid aneuploidy, with an SPF of 10.06%. Eight of 13 Ewing's sarcomas were positive for Mic-2 gene product (Ewing's marker). All 5 NHL were positive for leukocyte-common antigen (LCA). Three of 5 rhabdomyosarcomas were diploid, and 2 cases showed aneuploidy. Rhabdomyosarcoma showed muscle-specific actin positivity in 4 and desmin positivity in 3 cases. All 3 cases of PNET were diploid and positive for the Mic-2 gene product, whereas NSE and vimentin were positive in 2 cases. Both cases of retinoblastoma were diploid. Immunostaining was noncontributory in 1 case, and the other showed positivity for the retinoblastoma gene product, NSE, and chromogranin. Seven of 8 Wilms' tumors were diploid, and 1 showed aneuploid, with an SPF of 11.13%. Seven of 8 Wilms' tumors were positive for cytokeratin (CK), 5 were positive for NSE, 6 were positive for epithelial membrane antigen (EMA), and 5 were positive for vimentin. FNAB diagnosis of malignant round-cell tumors is difficult only by light microscopy. Due to the availability of specific markers for subgrouping tumors, ICC has proved to be more useful these days, while DNA FCM has little diagnostic value, as most of them are diploid. Further ancillary studies, e.g., electron microscopy, image analysis, and other molecular investigations, are required to further categorize these tumors more precisely for better clinical management of these cases. Diagn. Cytopathol. 24:233,239, 2001. © 2001 Wiley-Liss, Inc. [source] Value of Transesophageal 3D Echocardiography as an Adjunct to Conventional 2D Imaging in Preoperative Evaluation of Cardiac MassesECHOCARDIOGRAPHY, Issue 6 2008Silvana Müller M.D. Background: This study sought to compare three-dimensional (3D) and two-dimensional (2D) transesophageal echocardiography (TEE) to assess intracardiac masses. It was hypothesized that 3D TEE would reveal incremental information for surgical and nonsurgical management. Methods: In 41 patients presenting with intracardiac masses (17 thrombi, 15 myxomas, 2 lymphomas, 2 caseous calcifications of the mitral valve and one each of hypernephroma, hepatocellular carcinoma, rhabdomyosarcoma, lipoma, and fibroelastoma), 2D and 3D TEE were performed, aiming to assess the surface characteristics of the lesions, their relationship to surrounding structures, and attachments. Diagnoses were made by histopathology (n = 28), by computed tomography (n = 8), or by magnetic resonance imaging (n = 5). Benefit was categorized as follows: (A) New information obtained through 3D TEE; (B) helpful unique views but no additional findings compared to 2D TEE; (C) results equivalent to 2D TEE; (D) 3D TEE missed 2D findings. Results: In 15 subjects (37%), 3D TEE revealed one or more items of additional information (category A) regarding type and site of attachment (n = 9, 22%), surface features (n = 6, 15%), and spatial relationship to surrounding structures (n = 8, 20%). In at least 18% of all intracardiac masses, 3D TEE can be expected to deliver supplementary information. In six patients, additional findings led to decisions deviating from those made on the basis of 2D TEE. In 11 subjects (27%), 3D echocardiographic findings were categorized as "B." Conclusions: Information revealed by 3D imaging facilitates therapeutic decision making and especially the choice of an optimal surgical access prior to removal of intracardiac masses. [source] A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcomaGENES, CHROMOSOMES AND CANCER, Issue 10 2010Rob Hastings No abstract is available for this article. [source] Genomic and clinical analyses of 2p24 and 12q13-q14 amplification in alveolar rhabdomyosarcoma: A report from the Children's Oncology GroupGENES, CHROMOSOMES AND CANCER, Issue 8 2009Frederic G. Barr Alveolar rhabdomyosarcoma (ARMS) is an aggressive pediatric cancer that is related to the skeletal muscle lineage and characterized by recurrent chromosomal translocations. Within the ARMS category, there is clinical and genetic heterogeneity, consistent with the premise that "primary" genetic events collaborate with "secondary" events to give rise to subsets with varying clinical features. Previous studies demonstrated that genomic amplification occurs frequently in ARMS. In the current study, we used oligonucleotide arrays to localize two common amplicons to the 2p24 and 12q13-q14 chromosomal regions. Based on the copy number array data, we sublocalized the minimum common regions of 2p24 and 12q13-q14 amplification to a 0.83 Mb region containing the DDX1 and MYCN genes, and a 0.55 Mb region containing 27 genes, respectively. Using fluorescent in situ hybridization assays to measure copy number of the 2p24 and 12q13-q14 regions in over 100 cases, we detected these amplicons in 13% and 12% of cases, respectively. Comparison with fusion status revealed that 2p24 amplification occurred preferentially in cases positive for PAX3-FOXO1 or PAX7-FOXO1 while 12q13-q14 amplification occurred preferentially in PAX3-FOXO1 -positive cases. Expression studies demonstrated that MYCN was usually overexpressed in cases with 2p24 amplification while multiple genes were overexpressed in cases with 12q13-q14 amplification. Finally, although 2p24 amplification did not have a significant association with clinical outcome, 12q13-q14 amplification was associated with significantly worse failure-free and overall survival that was independent of gene fusion status. © 2009 Wiley-Liss, Inc. [source] Immunohistochemical detection of EGFR, fibrillin-2, P-cadherin and AP2, as biomarkers for rhabdomyosarcoma diagnosticsHISTOPATHOLOGY, Issue 7 2009Beate Grass Aims:, Subclassification of rhabdomyosarcoma (RMS) has clinical relevance, as the two major subclasses embryonal (ERMS) and alveolar (ARMS) rhabdomyosarcoma differ greatly in terms of aggressiveness and prognosis. However, histological analysis is not always sufficient for an unequivocal subclassification of RMS. Furthermore, clinical presentation of ARMS has been reported to mimic other tumour types, specifically lymphoma. The aim was to determine the role of four biomarkers in the diagnosis of rhabdomyosarcoma. Methods and results:, Recently, we identified four potential biomarkers to subclassify RMS with high sensitivity and specificity. These included epidermal growth factor receptor (EGFR) and fibrillin-2 as markers for ERMS, and AP2, and P-cadherin as markers for translocation-positive ARMS. Here, we further validate the potential of these four markers in a second, independent patient cohort by immunohistochemistry on 80 sections of RMS biopsy specimens as well as a tissue microarray representing 18 different additional tumour types, including seven lymphomas. The combination of EGFR and fibrillin-2 was able to detect ERMS with a specificity of 76% and sensitivity of 90%. The combination of AP2, and P-cadherin detected ARMS with a specificity of 97% and sensitivity of 90%, data very similar to our previous study. Furthermore, all lymphomas were clearly negative for AP2, and P-cadherin. Conclusions:, These four biomarkers are suitable for clinical implementation in the future diagnosis of RMS. [source] Staged autologous peripheral blood progenitor cell transplantation for Ewing sarcoma and rhabdomyosarcomaINTERNAL MEDICINE JOURNAL, Issue 7 2004D. S. Ritchie First page of article [source] The orphan nuclear receptor DAX1 is up-regulated by the EWS/FLI1 oncoprotein and is highly expressed in Ewing tumorsINTERNATIONAL JOURNAL OF CANCER, Issue 6 2006Marta Mendiola Abstract The Ewing family of tumors harbors chromosomal translocations that join the N-terminal region of the EWS gene with the C-terminal region of several transcription factors of the ETS family, mainly FLI1, resulting in chimeric transcription factors that play a pivotal role in the pathogenesis of Ewing tumors. To identify downstream targets of the EWS/FLI1 fusion protein, we established 293 cells expressing constitutively either the chimeric EWS/FLI1 or wild type FLI1 proteins and used cDNA arrays to identify genes differentially regulated by EWS/FLI1. DAX1 (NR0B1), an unusual orphan nuclear receptor involved in gonadal development, sex determination and steroidogenesis, showed a consistent up-regulation by EWS/FLI1 oncoprotein, but not by wild type FLI1. Specific induction of DAX1 by EWS/FLI1 was confirmed in two independent cell systems with inducible expression of EWS/FLI1. We also analyzed the expression of DAX1 in Ewing tumors and derived cell lines, as well as in other nonrelated small round cell tumors. DAX1 was expressed in all Ewing tumor specimens analyzed, and in seven out of eight Ewing tumor cell lines, but not in any neuroblastoma or embryonal rhabdomyosarcoma. Furthermore, silencing of EWS/FLI1 by RNA interference in a Ewing tumor cell line markedly reduced the levels of DAX1 mRNA and protein, confirming that DAX1 up-regulation is dependent upon EWS/FLI1 expression. The high levels of DAX1 found in Ewing tumors and its potent transcriptional repressor activity suggest that the oncogenic effect of EWS/FLI1 may be mediated, at least in part, by the up-regulation of DAX1 expression. © 2005 Wiley-Liss, Inc. [source] Rhabdomyosarcoma of the mandible in a 6-year-old boyINTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 4 2006L. E. DAVIDSON Summary., Introduction., Rhabdomyosarcoma is an aggressive malignant tumour composed of neoplastic mesenchymal cells that infiltrate surrounding tissue structures, making their precise site of origin unclear. Although rare, this is highly aggressive and the most common soft-tissue neoplasm of the head and neck in children. Regrettably by the time most cases are initially seen, the patients already have large tumours, due to rapid tumour growth and delayed medical consultation. Case Report., This report describes a 6-year-old presenting with just such symptoms of facial swelling and pain but elicitation of further information and findings, including tooth mobility of 3 days duration, led to prompt referral and early treatment of an embryonal rhabdomyosarcoma. Conclusion., General dental practitioners are frequently presented with a child with a swollen face and pain. Experience would suggest a dental abscess to be the most likely cause with treatment as appropriate. However, all swellings in children, should be thoroughly investigated and reviewed as particularly in this age group, tumour growth is rapid while early diagnosis allows successful treatment with multimodality therapy. [source] Autologous peripheral blood stem cell collections in children weighing less than 10 Kg with solid tumors: Experience of a single centerJOURNAL OF CLINICAL APHERESIS, Issue 2 2005Hyun-Jung Cho Abstract There have only been a few reports and limited performance of peripheral blood stem cell (PBSC) collection in very small children weighing less than 10 kg. In this study, we intended to evaluate the safety and yield of PBSC collection, with the efficacy of PBSC transplantation (PBSCT) in the smallest children with solid tumors. From January 1998 to February 2004, 173 children underwent PBSC collection in Samsung Medical Center, Korea. Of these, 15 (8.7%) children weighed less than 10 kg and their clinical diagnoses were neuroblastoma (10 cases), rhabdoid tumor (2 cases), rhabdomyosarcoma (2 cases), and Wilms tumor (1 case). PBSCs were collected following chemotherapy plus G-CSF mobilization. The median age and weight at the time of apheresis were 15 months and 9 kg, respectively. The median number of PBSC collection procedures per case was 4 (range, 2,7). The median cell yield per apheresis product was 0.95 (range, 0.01,33.32) × 106/kg CD34+ cells and 1.96 (range, 0.12,23.39) × 108/kg mononuclear cells. No complications associated with citrate toxicity and other adverse effect were observed during the procedures. After high-dose chemotherapy, 14 patients were reinfused with PBSCs alone and all showed successful hematopoietic recovery. We concluded that PBSC collection would be a safe and practical procedure, even when done in the smallest children, provided that adequate intravascular fluid volume and circulating red cell mass were maintained. Also, the use of PBSCs to support high-dose chemotherapy was well tolerated and might enhance hematological recovery in the smallest children showing the excellent efficacy of PBSCT. J. Clin. Apheresis © 2005 Wiley-Liss, Inc. [source] Cutaneous mesenchymal hamartoma with mixed myogenous differentiationJOURNAL OF CUTANEOUS PATHOLOGY, Issue 4 2006John Edwin Schrecengost A 3-month-old infant girl presented with a polypoid lesion in the perianal region. No changes in this lesion had been noted since birth. Microscopic examination of the excised specimen showed a mixture of mesenchymal elements, dominated by haphazard thin fascicles of skeletal muscle. Collagen and vascular changes were also apparent. Immunohistochemistry showed positive staining for muscle-specific actin and desmin in the fascicular components of the lesion, and smooth muscle actin, desmin, and h-caldesmon positivity in a haphazard collection of muscle fibers in the deep dermis and anal submucosa. Numerous Verhoeff-van Gieson positive elastic fibers were also noted. Hamartomas containing skeletal muscle have rarely been reported outside of the head and neck region. They must be distinguished from a variety of other tumors, including juvenile rhabdomyoma, benign Triton tumor, and rhabdomyosarcoma. [source] Non-hematopoietic cutaneous metastases in children and adolescents: thirty years experience at St. Jude Children's Research HospitalJOURNAL OF CUTANEOUS PATHOLOGY, Issue 10 2000W. A. Wesche Background: The spectrum of cutaneous metastasis of non-hematopoietic neoplasms in the pediatric population is not well documented. We report the histologic diversity of this unusual process over a 30-year period at a tertiary care center for pediatric malignancy (St. Jude Children's Research Hospital, Memphis, TN, USA). Methods: Of 1,971 pathology accessions which included histologic material on skin (1,604 surgical cases and 367 autopsy cases) we found 40 cases (2% of total skin accessions) coded for metastatic non-hematopoietic malignancy. Results: The patients (n=34) ranged in age from 1 month to 20 years (mean=9.8 years) and had a male:female ratio of 1:1. The histologic diagnoses were as follows: rhabdomyosarcoma NOS (6 cases), embryonal rhabdomyosarcoma (4 cases), alveolar rhabdomyosarcoma (4 cases), neuroblastoma (8 cases), osteosarcoma (2 cases), choriocarcinoma (2 cases), peripheral neuroepithelioma or Ewing's sarcoma (2 cases), malignant rhabdoid tumor (1 case), paraganglioma (1 case), nasopharyngeal carcinoma (1 case), sarcoma NOS (1 case), colon adenocarcinoma (1 case), and malignant melanoma (1 case). Conclusions: Cutaneous or subcutaneous metastasis of non-hematopoietic malignancies in children and adolescents is a rare occurrence but in a high percentage of cases may be the first manifestation of disease. The tumors most likely to metastasize to the skin in children are rhabdomyosarcoma and neuroblastoma and they are more likely than adult malignancies to disseminate to multiple distant sites. [source] Enterovirus 71-induced autophagy detected in vitro and in vivo promotes viral replicationJOURNAL OF MEDICAL VIROLOGY, Issue 7 2009Shu-Chen Huang Abstract Enterovirus 71 (EV71) is an important pathogen causing death in children under 5 years old worldwide. However, the underlying pathogenesis remains unclear. This study reveals that EV71 infection in rhabdomyosarcoma (RD) and neuroblastoma (SK-N-SH) cells stimulated the autophagic process, which was demonstrated by an increase of punctate GFP-microtubule-associated protein 1 light chain 3 (GFP-LC3), the level of autophagosome-bound LC3-II protein and double-membrane autophagosome formation. EV71-induced autophagy benefited EV71 replication, which was confirmed by the autophagic inducer rapamycin and the inhibitor 3-methyladenine. Signaling pathway investigation revealed that the decreased expression of phosphorylated mTOR and phosphorylated p70S6K is involved in EV71-induced autophagy in a cell-specific manner. The expression of phosphorylated extracellular signal-regulated kinase (Erk) was suppressed consistently in EV71-infected cells. However it did not participate in the autophagic response of the cell. Other signaling pathway molecules, such as Erk, PI3K/Akt, Bcl-2, BNIP3, and Beclin-1 were not affected by infection with EV71. Electron microscopy showed co-localization of autophagosome-like vesicles with either EV71-VP1 or LC3 protein in neurons of the cervical spinal cord in ICR mice infected with EV71. In conclusion, EV71 infection triggered autophagic flux and induced autophagosome formation both in vitro and in vivo. Autophagy induced by EV71 is beneficial for viral replication. Understanding the role of autophagy induced by EV71 in vitro and the formation of autophagosome-like vesicle in vivo provide new insights into the pathogenesis of EV71 infection. J. Med. Virol. 81:1241,1252, 2009. © 2009 Wiley-Liss, Inc. [source] The differential effects of the radioprotectant drugs amifostine and sodium selenite treatment in combination with radiation therapy on constituent bone cells, ewing's sarcoma of bone tumor cells, and rhabdomyosarcoma tumor cells in vitroJOURNAL OF ORTHOPAEDIC RESEARCH, Issue 11 2008Bryan S. Margulies Abstract The purpose of this study was to determine the differential effects of therapeutic X-radiation on constituent bone cells relative to the pediatric tumor cells: Ewing's sarcoma of bone and rhabdomyosarcoma. In addition, the radioprotectant drugs amifostine and sodium selenite were administered to constituent bone cells and the two tumor cells to determine if the radioprotectants differentially protect bone cells while not benefiting the tumor cells. These studies are a necessary first step in determining the potential clinical benefit of radioprotective therapy. An established in vitro cell culture model employing both constituent bone cells (osteoblasts, primary bone marrow monocytes, osteoclasts chondrocytes, and endothelial cells) and the tumor cells lines (Ewing's sarcoma of bone and rhabdomyosarcoma) were exposed to irradiation, amifostine, and sodium selenite. Cells were then assayed for changes in cell number, cytotoxicity, mineralization, bone resorption, cell attachment, osteocalcin, caspase-3 expression, clonogenic survival, and alkaline phosphatase expression. Radiation therapy differentially decreased cell number; with osteoblasts being shown to be the least sensitive to irradiation, the tumor cells had an intermediate sensitivity and monocytes were the most sensitive. Both amifostine and sodium selenite protected chondrocytes and osteoblasts from the negative effects of irradiation, while not protecting the tumor cells. The pediatric tumor cell lines were generally more radiosensitive than the bone cells examined. The radioprotectant drugs amifostine and sodium selenite provided significant radioprotection to constituent bone cells while not protecting the tumor cells. Finally, amifostine and sodium selenite therapy provided an additional benefit beyond radioprotection by increasing cytotoxicity in nonirradiated and irradiated tumor cells. © 2008 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 26:1512,1519, 2008 [source] | ||||||||||||||||||||||||||||||||||