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Clear Cell Sarcoma (clear + cell_sarcoma)
Selected AbstractsClear Cell Sarcoma of Soft Tissue with Cytogenetic and Molecular AnalysesJOURNAL OF CUTANEOUS PATHOLOGY, Issue 1 2006C. Vejabhuti A 7-year-old girl presented with pain and progressive swelling on the left plantar surface. Biopsy of a 2.5 cm mass demonstrated nests of large oval tumor cells with high nuclear-to-cytoplasm ratio, amphophilic to clear cytoplasm, prominent nucleoli, and brisk mitotic activity. Occasional cells showed spindled morphology. Infrequent melanin pigment was present. Melanocytic markers (HMB45, S-100) were diffusely positive. A diagnosis of clear cell sarcoma of soft tissue (CCSS) was made, and the tumor was re-excision with negative margins. 28 months later, a 1.0 cm pulmonary nodule was identified and showed CCSS. Cytogenetics demonstrated a complex karyotype (unbalanced translocation der(12;14)(p10;q10), additional chromosome 22 material of unknown origin). Although the CCSS translocation t(12;22)(q13;q12) was not identified, EWSR1 gene rearrangement was detected by fluorescence in situ hybridization (FISH). RT-PCR demonstrated an EWS-ATF1 fusion transcript, confirmed by direct sequencing. CCSS requires differentiation from malignant melanoma, due to overlapping clinical presentations, sites of involvement, histomorphology, immunocytochemical profiles, and ultrastructure. In many circumstances, definitive diagnosis is only possible with confirmation of the CCSS tumor-defining translocation. [source] Clear cell sarcoma of soft tissue: diagnostic utility of fluorescence in situ hybridization and reverse transcriptase polymerase chain reactionJOURNAL OF CUTANEOUS PATHOLOGY, Issue 4 2008Choladda V. Curry A 7-year-old girl presented with pain and progressive swelling on the left plantar surface. Biopsy of a 2.5 cm mass showed nests of large round to oval neoplastic cells with abundant amphophilic to clear cytoplasm, prominent nucleoli and high mitotic activity. Occasional cells showed spindled morphology. Infrequent melanin pigment was present. Melanocytic markers (HMB45, S-100) were diffusely positive. A diagnosis of clear cell sarcoma of soft tissue (CCSS) was made, and the mass was re-excised with negative margins. 28 months later, a 1.0 cm pulmonary nodule was identified and wedge excision showed metastatic CCSS. Cytogenetics showed a complex karyotype (unbalanced translocation der(12;14)(q10;q10), additional chromosome 22 material of unknown origin). Although the CCSS translocation t(12;22)(q13;q12) was not identified, EWSR1 gene rearrangement was detected by fluorescence in situ hybridization (FISH). Reverse transcription polymerase chain reaction (RT-PCR) showed an EWS-ATF1 fusion transcript, confirmed by direct sequencing. CCSS requires differentiation from malignant melanoma, because of overlapping clinical presentations, sites of involvement, histomorphology, immunocytochemical profiles and ultrastructure. In many circumstances, definitive diagnosis is only possible with confirmation of the CCSS-defining translocation. [source] Clear cell sarcoma in the era of sentinel lymph node mappingJOURNAL OF SURGICAL ONCOLOGY, Issue 3 2004Waddah B. Al-Refaie MD Abstract Clear cell sarcoma of the tendons and aponeuroses (CCSTA) are rare aggressive soft tissue tumors with tendency for lymph nodes dissemination. Lymph node involvement is a correlate for prognosis. We present three patients with CCSTA in whom simultaneous sentinel lymph biopsy (SLNB) and resection was performed. Sentinel lymph node mapping may have a role in clear cell sarcoma from a prognostic standpoint. Further investigations are needed for validation. J. Surg. Oncol. 2004;87:126,129. © 2004 Wiley-Liss, Inc. [source] Diagnostic utility of EWS break-apart fluorescence in situ hybridization in distinguishing between non-cutaneous melanoma and clear cell sarcomaPATHOLOGY INTERNATIONAL, Issue 9 2010Joon Seon Song Clear cell sarcoma (CCS) is a rare soft tissue sarcoma with morphological similarities to malignant melanoma (MM), but with a distinct genetic background that includes the chromosomal translocation t(12;22)(q13;q12). Clear cell sarcoma is often misdiagnosed as MM because of similarities in target locations and immunophenotypes. Eighteen cases with MM in non-cutaneous sites were subjected to fluorescence in situ hybridization (FISH) to assess EWS gene breakage. Tissue microarrays were constructed using formalin-fixed, paraffin-embedded tissue and the EWSR1 (22q12) dual-color, break-apart rearrangement probe (Vysis) was used. Two patients were classified as CCS with EWS gene rearrangement, with a mean of 67.5% positive cells per sample according to break-apart FISH. The remaining 16 patients lacked break-apart signals of the EWS gene. The presence of type 1 (EWS exon 8-ATF1 exon 4) fusion transcripts was confirmed in FISH-positive patients by RT-PCR. Retrospective analysis revealed that the masses were located in the foot and buttock, respectively. Morphologically, tumor cells were not typical for those of CCS or MM. Break-apart FISH is an accurate and convenient method for differentiating between MM and CCS. Molecular detection of EWS gene rearrangement, either by break-apart FISH or RT-PCR, is mandatory in subjects with melanotic tumors of soft tissue. [source] Clear cell sarcoma of the small bowel: a potential pitfall,APMIS, Issue 10 2005Case report Clear cell sarcoma (soft-part melanoma) is a very rare entity with a distinctive histopathologic and molecular profile. Herein, we present the sixth reported case of a primary gastrointestinal clear cell sarcoma discovered in a 21-year-old woman. The patient underwent numerous tests prior to the diagnosis of her small bowel pathology, including the use of capsule endoscopy, which allowed for visualization and final localization of the tumour. Additionally, we discuss this rare type of sarcoma that affects young adults and has a poor prognosis characterized by the balanced chromosomal translocation t(12;22)(q13;q12) with special emphasis on the necessity for pathologists to be able to distinguish it from melanoma , potentially a major pitfall in diagnosis. [source] EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytomaGENES, CHROMOSOMES AND CANCER, Issue 12 2007Cristina R. Antonescu The molecular hallmark of angiomatoid fibrous histiocytoma (AFH) is not well defined, with only six cases with specific gene fusions reported to date, consisting of either FUS-ATF1 or EWSR1-ATF1. To address this, we investigated the presence of FUS-ATF1, EWSR1-ATF1, and the highly related EWSR1-CREB1 fusion in a group of nine AFHs. All cases were subjected to RT-PCR for EWSR1-ATF1 and EWSR1-CREB1. FISH for EWSR1 and FUS rearrangements was performed in most cases. Transcriptional profiling was performed in three tumors and their gene expression was compared to five clear cell sarcomas expressing either the EWSR1-ATF1 or EWSR1-CREB1 fusion. By RT-PCR, eight out of nine tumors showed the presence of the EWSR1-CREB1 fusion, while one had an EWSR1-ATF1 transcript. FISH showed evidence of EWSR1 rearrangement in seven out of eight cases. Karyotypic analysis performed in one tumor showed a t(2;22)(q33;q12). High transcript levels were noted for TFE3 in AFH tumors, while overexpression of genes involved in melanogenesis, such as MITF, GP100, and MET was noted in somatic clear cell sarcomas. We report for the first time the presence of EWSR1-CREB1 in AFH, which now appears to be the most frequent gene fusion in this tumor. EWSR1-CREB1 is a novel translocation recently described in clear cell sarcoma of the GI tract. EWSR1-ATF1, identified in some AFH cases, is the most common genetic abnormality in soft tissue clear cell sarcoma. Thus, identical fusions involving ATF1 and CREB1 are found in two distinct sarcomas, which may be able to transform two different types of mesenchymal precursor cells, unlike most other sarcoma gene fusions. © 2007 Wiley-Liss, Inc. [source] Paediatric renal tumours: recent developments, new entities and pathological featuresHISTOPATHOLOGY, Issue 5 2009Neil J Sebire Paediatric renal tumours represent a relatively common group of childhood solid neoplasms, in which both diagnosis and treatment are highly dependent on the histopathological findings. In addition to Wilms' tumour (nephroblastoma), a number of specific distinct entities are now reported, including (congenital) mesoblastic nephroma, clear cell sarcoma of the kidney, rhabdoid tumour of the kidney, specific paediatric variants of renal cell carcinoma, and others such as renal primitive neuroectodermal tumour and desmoplastic small round cell tumour. Recent advances in both molecular biological findings and immunohistochemistry allow reliable diagnosis of most of these entities even on the basis of small needle biopsy specimens. This review highlights both the salient features important for the diagnostic pathologist reporting such cases, and areas in which either new classifications or major advances in diagnostic criteria have occurred in recent years. [source] Clear cell sarcoma of soft tissue: diagnostic utility of fluorescence in situ hybridization and reverse transcriptase polymerase chain reactionJOURNAL OF CUTANEOUS PATHOLOGY, Issue 4 2008Choladda V. Curry A 7-year-old girl presented with pain and progressive swelling on the left plantar surface. Biopsy of a 2.5 cm mass showed nests of large round to oval neoplastic cells with abundant amphophilic to clear cytoplasm, prominent nucleoli and high mitotic activity. Occasional cells showed spindled morphology. Infrequent melanin pigment was present. Melanocytic markers (HMB45, S-100) were diffusely positive. A diagnosis of clear cell sarcoma of soft tissue (CCSS) was made, and the mass was re-excised with negative margins. 28 months later, a 1.0 cm pulmonary nodule was identified and wedge excision showed metastatic CCSS. Cytogenetics showed a complex karyotype (unbalanced translocation der(12;14)(q10;q10), additional chromosome 22 material of unknown origin). Although the CCSS translocation t(12;22)(q13;q12) was not identified, EWSR1 gene rearrangement was detected by fluorescence in situ hybridization (FISH). Reverse transcription polymerase chain reaction (RT-PCR) showed an EWS-ATF1 fusion transcript, confirmed by direct sequencing. CCSS requires differentiation from malignant melanoma, because of overlapping clinical presentations, sites of involvement, histomorphology, immunocytochemical profiles and ultrastructure. In many circumstances, definitive diagnosis is only possible with confirmation of the CCSS-defining translocation. [source] Clear Cell Sarcoma of Soft Tissue with Cytogenetic and Molecular AnalysesJOURNAL OF CUTANEOUS PATHOLOGY, Issue 1 2006C. Vejabhuti A 7-year-old girl presented with pain and progressive swelling on the left plantar surface. Biopsy of a 2.5 cm mass demonstrated nests of large oval tumor cells with high nuclear-to-cytoplasm ratio, amphophilic to clear cytoplasm, prominent nucleoli, and brisk mitotic activity. Occasional cells showed spindled morphology. Infrequent melanin pigment was present. Melanocytic markers (HMB45, S-100) were diffusely positive. A diagnosis of clear cell sarcoma of soft tissue (CCSS) was made, and the tumor was re-excision with negative margins. 28 months later, a 1.0 cm pulmonary nodule was identified and showed CCSS. Cytogenetics demonstrated a complex karyotype (unbalanced translocation der(12;14)(p10;q10), additional chromosome 22 material of unknown origin). Although the CCSS translocation t(12;22)(q13;q12) was not identified, EWSR1 gene rearrangement was detected by fluorescence in situ hybridization (FISH). RT-PCR demonstrated an EWS-ATF1 fusion transcript, confirmed by direct sequencing. CCSS requires differentiation from malignant melanoma, due to overlapping clinical presentations, sites of involvement, histomorphology, immunocytochemical profiles, and ultrastructure. In many circumstances, definitive diagnosis is only possible with confirmation of the CCSS tumor-defining translocation. [source] Balloon Cell Melanoma: Case ReportJOURNAL OF CUTANEOUS PATHOLOGY, Issue 1 2005Anna Yemelyanova Balloon cell melanoma (BCM) is a rare histological variant of amelanotic melanoma. The differential diagnosis of clear cell lesion includes BCM, renal cell carcinoma, clear cell sarcoma as well as a number of histiocytic and infectious processes. We report a case of BCM in a 33 year-old Indonesian man who presented with a non-tender, freely movable, non-pigmented left thigh nodule, which had been present for a year. On microscopic examination tumor consisted of a nodular infiltrate present within the dermis with superficial invasion of subcutaneous fat. Tumor cells formed nested aggregates were relatively bland in appearance and had abundant, clear cytoplasm, enlarged nuclei and prominent eosinophilic nucleoli. Rare mitotic figures were present within the deep portion of the neoplasm. No definitive nests were seen at the dermal epidermal junction or within the epidermis. Histochemical stains AFB, PAS/D, and GMS were negative. Immunoperoxidase studies were positive with antibodies to vimentin, S100, HMB45, CD68, and negative with cytokeratin, Factor XIIIA, and lysozyme. The diagnosis of BCMM was favored based on histological features, and immunoperoxidase staining pattern. We believe this case can provide additional information to help establish diagnostic criteria of this rare variant of melanoma. [source] Clear cell sarcoma in the era of sentinel lymph node mappingJOURNAL OF SURGICAL ONCOLOGY, Issue 3 2004Waddah B. Al-Refaie MD Abstract Clear cell sarcoma of the tendons and aponeuroses (CCSTA) are rare aggressive soft tissue tumors with tendency for lymph nodes dissemination. Lymph node involvement is a correlate for prognosis. We present three patients with CCSTA in whom simultaneous sentinel lymph biopsy (SLNB) and resection was performed. Sentinel lymph node mapping may have a role in clear cell sarcoma from a prognostic standpoint. Further investigations are needed for validation. J. Surg. Oncol. 2004;87:126,129. © 2004 Wiley-Liss, Inc. [source] Sentinel lymph node biopsy in clear cell sarcomaJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 9 2007F Fantini [source] Diagnostic utility of EWS break-apart fluorescence in situ hybridization in distinguishing between non-cutaneous melanoma and clear cell sarcomaPATHOLOGY INTERNATIONAL, Issue 9 2010Joon Seon Song Clear cell sarcoma (CCS) is a rare soft tissue sarcoma with morphological similarities to malignant melanoma (MM), but with a distinct genetic background that includes the chromosomal translocation t(12;22)(q13;q12). Clear cell sarcoma is often misdiagnosed as MM because of similarities in target locations and immunophenotypes. Eighteen cases with MM in non-cutaneous sites were subjected to fluorescence in situ hybridization (FISH) to assess EWS gene breakage. Tissue microarrays were constructed using formalin-fixed, paraffin-embedded tissue and the EWSR1 (22q12) dual-color, break-apart rearrangement probe (Vysis) was used. Two patients were classified as CCS with EWS gene rearrangement, with a mean of 67.5% positive cells per sample according to break-apart FISH. The remaining 16 patients lacked break-apart signals of the EWS gene. The presence of type 1 (EWS exon 8-ATF1 exon 4) fusion transcripts was confirmed in FISH-positive patients by RT-PCR. Retrospective analysis revealed that the masses were located in the foot and buttock, respectively. Morphologically, tumor cells were not typical for those of CCS or MM. Break-apart FISH is an accurate and convenient method for differentiating between MM and CCS. Molecular detection of EWS gene rearrangement, either by break-apart FISH or RT-PCR, is mandatory in subjects with melanotic tumors of soft tissue. [source] Comparative immunohistochemical analysis of developing kidneys, nephroblastomas and related tumors: Considerations on their histogenesisPATHOLOGY INTERNATIONAL, Issue 6 2000Fumiko Satoh Immunoperoxidase analysis was performed to evaluate the phenotypic expression of eight renal differentiation antigens in five nephroblastomas, one clear cell sarcoma of the kidney (CCSK), one rhabdoid tumor of the kidney (RTK), and four related tumors. A total of 19 fetal and pediatric kidneys, including two 6th -week mesonephric tissues, were comparatively studied. All the specimens were fixed in formalin and embedded in paraffin. Neural cell adhesion molecule (NCAM), a marker of the nephrogenic zone of the developing kidney, was consistently expressed in the epithelial and blastematous components of nephroblastomas of the common type. The epithelial components also commonly expressed NK1 and Leu 7 (CD57), and the findings may reflect that both were positive in immature proximal tubules directly differentiating from the NCAM-positive immature fetal tubuloglomerular buds. In two cases, the epithelial component was immunoreactive for CD10 and WT1 gene product (WT1-GP). Leu M1, epithelial membrane antigen and CA15,3 were only focally expressed in nephroblastomas. Rhabdomyoblasts in the stroma were positive for WT1-GP. CCSK was featured by the expression of NCAM and CD10. In RTK, focal epithelial differentiation was discerned, with focal positivity of WT1-GP and negativity of NCAM. In congenital mesoblastic nephroma, the stromal spindle cells were strongly immunoreactive for WT1-GP, while WT1-GP was not expressed in solitary multilocular cyst of the kidney. Pancortical nephroblastomatosis was featured by the diffuse subcapsular reappearance of immature metanephric tissue. Nephroblastomas and related conditions thus offer an adequate model for studying human nephrogenesis. [source] Clear cell sarcoma of the small bowel: a potential pitfall,APMIS, Issue 10 2005Case report Clear cell sarcoma (soft-part melanoma) is a very rare entity with a distinctive histopathologic and molecular profile. Herein, we present the sixth reported case of a primary gastrointestinal clear cell sarcoma discovered in a 21-year-old woman. The patient underwent numerous tests prior to the diagnosis of her small bowel pathology, including the use of capsule endoscopy, which allowed for visualization and final localization of the tumour. Additionally, we discuss this rare type of sarcoma that affects young adults and has a poor prognosis characterized by the balanced chromosomal translocation t(12;22)(q13;q12) with special emphasis on the necessity for pathologists to be able to distinguish it from melanoma , potentially a major pitfall in diagnosis. [source] Prognostic factors for patients with localized soft-tissue sarcoma treated with conservation surgery and radiation therapyCANCER, Issue 10 2003An analysis of 1225 patients Abstract BACKGROUND Prognostic factors for patients with soft-tissue sarcoma who are treated with conservative surgery and radiation are documented poorly. METHODS The clinicopathologic features and disease outcome for 1225 patients with localized sarcoma who were treated with conservative surgery and radiation were reviewed retrospectively. Actuarial univariate and multivariate statistical methods were used to determine significant prognostic factors for local control, metastatic recurrence, and disease specific survival. RESULTS The median follow-up of surviving patients was 9.5 years. The respective local control rates at 5 years, 10 years, and 15 years were 83%, 80%, and 79%. Factors predictive of local recurrence were positive or uncertain resection margins; tumors located in the head and neck and the deep trunk; presentation with local recurrence; patient age > 64 years; malignant fibrous histiocytoma, neurogenic sarcoma. or epithelioid sarcoma histopathology; tumor measuring > 10 cm in greatest dimension; and high pathologic grade. Freedom from metastasis at 5 years, 10 years, and 15 years was 71%, 68%, and 66%, respectively. Factors that were predictive of metastatic recurrence were high tumor grade; large tumor size (> 5 cm); and leiomyosarcoma, rhabdomyosarcoma, synovial sarcoma, or epithelioid sarcoma. The respective disease specific survival rates at 5 years, 10 years, and 15 years were 73%, 68%, and 65%. Adverse factors for disease specific survival were high tumor grade; large tumor size (> 5 cm); tumors located in the head and neck and deep trunk; rhabdomyosarcoma, epithelioid sarcoma, or clear cell sarcoma; patient age > 64 years; and positive or uncertain resection margins. CONCLUSIONS Soft-tissue sarcoma comprises a heterogeneous group of diseases. Prognostic factors for local recurrence, metastatic recurrence, lymph node recurrence, disease free survival, and disease specific survival are different, and optimal treatment strategies need to take this complexity into account. Cancer 2003;10:2530,43. © 2003 American Cancer Society. DOI 10.1002/cncr.11365 [source] EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytomaGENES, CHROMOSOMES AND CANCER, Issue 12 2007Cristina R. Antonescu The molecular hallmark of angiomatoid fibrous histiocytoma (AFH) is not well defined, with only six cases with specific gene fusions reported to date, consisting of either FUS-ATF1 or EWSR1-ATF1. To address this, we investigated the presence of FUS-ATF1, EWSR1-ATF1, and the highly related EWSR1-CREB1 fusion in a group of nine AFHs. All cases were subjected to RT-PCR for EWSR1-ATF1 and EWSR1-CREB1. FISH for EWSR1 and FUS rearrangements was performed in most cases. Transcriptional profiling was performed in three tumors and their gene expression was compared to five clear cell sarcomas expressing either the EWSR1-ATF1 or EWSR1-CREB1 fusion. By RT-PCR, eight out of nine tumors showed the presence of the EWSR1-CREB1 fusion, while one had an EWSR1-ATF1 transcript. FISH showed evidence of EWSR1 rearrangement in seven out of eight cases. Karyotypic analysis performed in one tumor showed a t(2;22)(q33;q12). High transcript levels were noted for TFE3 in AFH tumors, while overexpression of genes involved in melanogenesis, such as MITF, GP100, and MET was noted in somatic clear cell sarcomas. We report for the first time the presence of EWSR1-CREB1 in AFH, which now appears to be the most frequent gene fusion in this tumor. EWSR1-CREB1 is a novel translocation recently described in clear cell sarcoma of the GI tract. EWSR1-ATF1, identified in some AFH cases, is the most common genetic abnormality in soft tissue clear cell sarcoma. Thus, identical fusions involving ATF1 and CREB1 are found in two distinct sarcomas, which may be able to transform two different types of mesenchymal precursor cells, unlike most other sarcoma gene fusions. © 2007 Wiley-Liss, Inc. [source] Expression of cytokeratin-18-related tissue polypeptide-specific (TPS) antigen in Wilms tumorPEDIATRIC BLOOD & CANCER, Issue 4 2001Winfried Rebhandl MD Abstract Background So far, there is no approved tumour marker for diagnosis or follow-up in Wilms tumour (WT). Tissue polypeptide-specific antigen (TPS), a cytokeratin 18 proteolytic fragment, has been suggested to be of value in the clinical management of WT patients. Cytokeratin 18 fragments are an early indicator of apoptosis and cytokeratin 18 might influence tumour cell behaviour. We investigated TPS expression in specimens of WT and other paediatric renal malignancies Procedure Immunoreactivity of WT sections (n,=,9), clear cell sarcomas (CCSK, n,=,3), and a renal cell carcinoma (RCC), and two pediatric kidney tumour cell lines (WT: SK-NEP-1 and rhabdoid tumour of the kidney: G-401) were investigated using the monoclonal antibody M3. Additionally, immunoblotting and RT-PCR analysis were performed. Cell culture supernatants were evaluated for TPS release. Serum TPS was measured in five patients at diagnosis, during chemotherapy and after surgical resection. Results Moderate to strong immunoreactivity for TPS was found in tubular and blastemal components of nearly all (8/9) WT specimens. This was confirmed by Western-blotting. Cystic and epithelial-like portions of CCSKs and RCC showed distinct reactivity (3/3). The supernatant of G-401 but not of SK-NEP-1 showed a time- and cell number-dependent increase of TPS release. Interestingly, TPS synthesis was demonstrated in SK-NEP-1 cells. Median preoperative serum TPS was elevated (293 U/l) compared to healthy children and lowest after surgical resection (49.5 U/l). Conclusions This is the first study demonstrating the synthesis and release of TPS by WTs and other paediatric renal malignancies. Considering the elevated levels of TPS in serum of these patients, a further investigation of this marker by larger clinical trials seems to be justified. Med Pediatr Oncol 2001;37:357,364. © 2001 Wiley-Liss, Inc. [source] | |||||||||||||||||||||||||