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Cystic Degeneration (cystic + degeneration)
Selected AbstractsVanishing white matter disease: A review with focus on its geneticsDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 2 2006Jan C. Pronk Abstract Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive brain disorder, most often with a childhood onset. Magnetic resonance imaging and spectroscopy indicate that, with time, increasing amounts of cerebral white matter vanish and are replaced by fluid. Autopsy confirms white matter rarefaction and cystic degeneration. The process of localization and identification of the first two genes related to VWM, EIF2B5 and EIF2B2, was facilitated by two founder effects in the Dutch population. EIF2B5 and EIF2B2 encode the , and , subunits of translation initiation factor eIF2B. Soon it was shown that mutations in all five eIF2B subunit genes can cause VWM. EIF2B is essential for the initiation of translation of RNA into protein and is involved in regulation of the process, especially under stress conditions, which may explain the sensitivity to stress conditions observed in VWM patients. The pathophysiology of the disease is still poorly understood. MRDD Research Reviews 2006;12:123,128. © 2006 Wiley-Liss, Inc. [source] Papillary thyroid carcinoma with atypical histiocytoid cells on fine-needle aspirationDIAGNOSTIC CYTOPATHOLOGY, Issue 4 2009Manju Harshan M.D. Abstract Although papillary thyroid carcinoma (PTC) usually has classic cytological characteristics on fine-needle aspiration (FNA), it can present rarely with aberrant features resembling those of histiocytes in a cystic nodule. The aim of the current study was to describe PTC with atypical histiocytoid cells and distinguish it from benign histiocytes. A retrospective computerized search for FNAs with atypical features suggestive of PTC and cystic degeneration was performed, and if available, the corresponding resection specimens were compared. Four cases met the criteria for FNAs and three had surgical pathology follow-up, which showed PTC. One aspirate had some features typical of PTC, but the remaining FNAs had atypical histiocytoid cells, which had traits intermediate between those of PTC and histiocytes. Large cell size, pseudoinclusions, nuclear grooves, and multiple well-defined vacuoles in atypical histiocytoid cells favor PTC over benign histiocytes. Ancillary immunocytochemical studies can also be useful in confirming the diagnosis. Histiocytic cells are frequently present in thyroid aspirates, and occasionally, they have atypical features that represent an unusual presentation of PTC. Closer examination of these cells can provide diagnostic clues for preventing false-negative diagnosis of PTC. Diagn. Cytopathol. 2009. © 2009 Wiley-Liss, Inc. [source] Sonographic appearances of malignant lymphoma of the salivary glandsJOURNAL OF CLINICAL ULTRASOUND, Issue 9 2001Mayumi Yasumoto MD Abstract Purpose We undertook this retrospective study to describe the sonographic findings in patients with malignant lymphoma of the major salivary glands. Methods We reviewed the sonograms and medical records of 7 patients with histologically proven lymphoma of the parotid (3 patients) or submandibular glands (4 patients). Results Primary lymphoma was found in 1 parotid gland and 2 submandibular glands. The remaining 4 cases were secondary lymphomas. One patient had been diagnosed with Sjögren's syndrome and had been followed up with sonography. In parotid glands, both parenchymal and intraparotid nodal lymphomas were found. All submandibular gland tumors were parenchymal. Intraparotid nodal involvement appeared as multiple small nodules with relatively smooth margins, whereas the parenchymal parotid and submandibular gland lymphomas were larger (25 to 45 mm in longitudinal diameter) and showed various degrees of margin irregularity. All tumors were hypoechoic relative to the normal parenchyma. The primary parotid lymphoma and intraparotid nodal lymphomas had a homogeneous echotexture; the secondary parotid lymphomas and submandibular gland lymphomas were heterogeneous. One submandibular gland lymphoma showed intratumoral echogenic stripes. Neither calcification nor cystic degeneration was observed within the lesions. Conclusions Lymphomas of the salivary glands present a variety of sonographic appearances, ranging from multiple small, hypoechoic nodules to an irregularly shaped heterogeneous mass without cystic areas or calcifications. © 2001 John Wiley & Sons, Inc. J Clin Ultrasound 29:491,498, 2001. [source] Basal cell carcinoma with matrical differentiation in a transplant patient: A case report and review of the literatureJOURNAL OF CUTANEOUS PATHOLOGY, Issue 6 2005Faizi Ali Background:, Shadow cells, characterized by basaloid squamous cells with a distinct well-defined border and a central unstained area as a shadow of lost nuclei, are characteristic of pilomatricoma, a distinct neoplasm of hair matrix differentiation. The presence of shadow cells within tumor islands composed of follicular germinative cells of an otherwise classic basal cell carcinoma (BCC) has been considered as a distinct diagnostic category of BCC with matrical differentiation. We present a case of BCC with matrical differentiation in a transplant patient. To our knowledge, only 10 cases [Aloi et al. Am J Dermatopathol 1988; 10: 509; Ambrojo et al. Am J Dermatopathol 1992; 14: 293; Sagol et al. East J Med 1999; 4: 37; Kwittken J. Cutis 2002; 69: 57; Kim et al. Yonsei Med J 2003; 44: 523] of BCC showing matrical differentiation have been reported. None have been reported arising on the background of immunosuppression. Methods:, A 58-year-old male cardiac transplant patient with a nodule on the dorsum of left hand was studied. It arose and enlarged rapidly within a few months, causing irritation and bleeding. The nodule was surgically excised and submitted for histopathologic evaluation. The sections were prepared by hematoxylin and eosin (H&E) method. Results:, The H&E-stained sections of the hand lesion revealed multiple nodular masses of basaloid follicular germinative cells. In some areas, there was peripheral palisading and stromal retraction artifact typical of classic BCC. In these areas, the tumor nodules were connected to the epidermis, whereas in others, it extended deep into the reticular dermis to the subcutaneous fat junction. Elsewhere, the majority of the tumor contained a population of shadow cells, similar to those in pilomatricoma, with basaloid-appearing matrical cells in the periphery. Trichohyaline granules were identified in the cytoplasm of many of the peripheral basaloid cells. These granules are one of the characteristic features of follicular matrix differentiation. Mitoses were rare. Areas of cystic degeneration were present throughout the tumor. There was no evidence of an infiltrating growth pattern, lymphovascular invasion, or sarcomatoid growth pattern. Conclusion:, BCC with matrical differentiation is a distinct pathologic entity and a rare subtype of BCC featuring shadow and matrical cells, typically seen in pilomatricoma, a benign hair matrix neoplasm. This tumor has not yet been reported in an immunosuppressed transplant patient. [source] Basaloid neoplasms in nevus sebaceusJOURNAL OF CUTANEOUS PATHOLOGY, Issue 7 2000Steven Kaddu Background: Nevus sebaceus (NS) (organoider nevus) may frequently be associated with the development of a number of benign and malignant neoplasms among which basaloid neoplasms are the most common. Histopathologic criteria for diagnosis and classification of basaloid proliferations arising in NS are still debated. Most previous investigators have considered them to represent mainly basal cell carcinomas (BCCs). On the contrary, a number of recent authors have proposed that most basaloid neoplasms in NS exhibit predominantly morphologic features implying benignancy, thus representing trichobalstomas (TBs). In this study, we attempted to characterize better the histopathologic features of basaloid neoplasms in NS in a large series based on current morphologic criteria. Methods: Three-hundred and sixteen cases of NS seen over 19 years were consecutively sampled and reviewed for basaloid neoplasms. Twenty-four cases of basaloid neoplasms in NS were identified and categorized based on current histopathologic criteria either as TB or BCC. For comparison of histopathologic features, 37 solitary TB were also studied. Results: Following histopathologic analysis, 22 cases were categorized as TB (91.6%, 10 males, 12 females; mean age 40.8 years, range 19,78 years) and 2 cases as BCC (8.4%, 1 male, 1 female; 32 years and 40 years). Clinical features in both groups were generally similar. The lesions presented exclusively on the head and neck as skin colored to pigmented papules or nodules within NS (scalp in 19 TB cases and 1 BCC case; face in 2 TB cases and 1 BCC case; neck in 1 TB case). Histopathologically, TB in NS were characterized by smooth-bordered basaloid aggregations with either a nodular and/or a superficial pattern, abundant fibrous stroma with focal clefts within the stroma, and prominent features of limited follicular differentiation (rudimentary follicular germs in concert with papillae). In contrast, BCC in NS showed basaloid aggregations that vary markedly in size and shape, scant fibrous stroma, focal mucinous clefts between basaloid aggregations and surrounding stroma, and lack of prominent rudimentary follicular germs in concert with papillae. Remarkably, sections in a few cases of TB showed features occasionally found in BCCs but presently widely considered to be unspecific (e.g., ulceration, cystic degeneration, and focal clefts between basaloid aggregations and surrounding stroma). Two cases of TB in NS were associated with a sebaceoma and 1 case with a desmoplastic trichilemmoma. Follow-up data in 14 TB cases and 2 BCC cases (mean follow-up 28.8 months; range 1 to 160 months) revealed no local recurrences or distant metastases. Conclusion: Our study confirms that the vast majority of the basaloid neoplasms arising in NS show clear-cut morphologic criteria for TB, whereas only a few cases display histopathologic features consistent with BCC. In a minority of cases, basaloid neoplasms with overall morphologic features of TB may present problems in diagnosis when they exhibit a few histopathologic features traditionally associated with BCC or when they occur in combination with other adnexal neoplasms. [source] Cavernous hemangioma of the liver with giant cyst formation: Degeneration by apoptosis?JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 3 2001Kazuhiro Hanazaki Abstract Cavernous hemangioma of the liver with cyst formation is a very rare condition. A case of cavernous hemangioma of the liver with unilocular giant cyst formation undergoing surgical removal is reported. Notably, the patient also had Budd,Chiari syndrome with an obstructing lesion in the inferior vena cava. The cystic degeneration of the hemangioma implied a relationship with apoptosis. This is the first reported case of Budd,Chiari syndrome caused by advanced cystic degeneration of hepatic cavernous hemangioma. [source] Malignant peripheral nerve sheath tumor arising in benign ancient schwannoma: A case report with an immunohistochemical studyPATHOLOGY INTERNATIONAL, Issue 2 2000Yoshiki Mikami A rare example of malignant transformation in an ancient schwannoma arisng in the right side of the neck of a 51-year-old man without any clinical manifestations suggesting neurofibromatosis is described. The tumor, approximately 4 cm at its largest dimension, was well circumscribed and had a direct connection with the sympathetic nerve. Microscopically, the central portion of the tumor showed features of ancient schwannoma characterized by extensive hyalinization with cystic degeneration, scattered spindle cells with hyperchromatic and tapered nuclei, and some symplastic changes. However, predominantly in the outer portion, a proliferation of spindle-shaped cells with enlarged nuclei was present. The nuclei of these cells showed irregular contours, coarse granular chromatin texture, and conspicuous nucleoli. Mitotic figures and small necrotic foci with scattered apoptotic bodies were also seen. Immunohistochemically, S-100 protein was almost negative in areas consisting of overtly atypical cells where the mitotic index evaluated with MIB-1 antibody was 30.5%. In contrast, S-100-positive bland spindle cells were scattered in an extensively hyalinized area with a labeling index less than 3%. P53 protein was strongly positive in atypical spindle cells. Although it is a very uncommon event, definite nuclear atypia, frequent mitotic figures, and the existence of small necrotic foci should be recognized as indicating a diagnosis of malignant degeneration of benign schwannoma. Immunohistochemistry would be useful as an ancillary technique in such a setting. [source] Case of cystic schwannomaTHE JOURNAL OF DERMATOLOGY, Issue 11 2008Yu Sung CHOI ABSTRACT Schwannoma is a well-defined tumor arising from the nerve sheath. It may present as a solitary mass in any part of the body, but is more commonly seen in the head, neck and extremities. We describe a 32-year-old female patient with a small dermal nodule on the forehead, which was 2 cm in diameter, round and of a cystic nature. Microscopic examination revealed that it consisted of compact spindle cells arranged partly in short bundles or a fascicular pattern with outstanding cystic degeneration manifested as a large, unilocular cavity in the center of the tumor tissue. The tumor cells were positive for S-100 protein and negative for epithelial membrane antigen (EMA), while the tumor capsule was positive for EMA. There was no S-100-positive membrane-like structure lining the cyst wall. [source] Obstetric risk factors and persistent increases in brain parenchymal echogenicity in preterm infantsBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 9 2004Arsenio Spinillo Objective To assess the risk of persistent (>7 days) increases in brain parenchymal echogenicity in preterm infants and their association with known obstetric risk factors. Design Case,control study of prospectively collected data. Setting A University hospital in Northern Italy. Population Eighty-five singleton infants between 24 and 34 weeks of gestation with a cranial ultrasonographic diagnosis of persistently increased parenchymal echogenicity without development of cystic degeneration, and 170 control infants with negative cranial ultrasonographic findings. Methods A comparison of the prevalence of selected obstetric risk factors between infants with persistent echo-dense lesions and negative controls. Main outcome measures Odds ratios of persistent echo-dense lesions including first-degree interactions between variables. Results After adjusting for birthweight, logistic regression analysis showed that the only factor associated with an increased risk of persistent brain echo-dense lesions in infants was multiple courses of antenatal steroids (OR = 2.14, 95% CI = 1.11,4.15, P= 0.024). In this group, the risk of persistent echo-dense lesions was particularly high in: (i) mothers receiving dexamethasone rather than betamethasone (P value for interaction = 0.015) and (ii) after expectant management of pre-eclampsia or intrauterine growth retardation (P value for interaction = 0.03). Conclusions Multiple doses of antenatal steroids, especially dexamethasone, could influence the prevalence of persistent increases in brain parenchymal echogenicity in preterm infants. [source] Diagnostic value of GLUT-1 immunoreactivity to distinguish benign from malignant cystic squamous lesions of the head and neck in fine-needle aspiration biopsy materialDIAGNOSTIC CYTOPATHOLOGY, Issue 5 2004Michael F. Weiner M.D. Abstract The distinction of cystic squamous-cell carcinoma (SCC) from benign cystic squamous lesions (BCSLs) of the head and neck can be problematic on fine-needle aspiration biopsy (FNAB) material, particularly when BCSLs display epithelial reactive atypia or when SCC is well differentiated. Glucose transporter 1 (GLUT-1), a facilitative cell surface glucose transport protein, is aberrantly expressed in many cancers including oral and hypopharyngeal SCC. We evaluated the expression of GLUT-1 by immunochemistry on FNAB material to determine its value in distinguishing cystic SCC from BCSL of the head and neck. A 5-yr retrospective review of all head and neck cystic squamous lesions having FNAB specimens with cell block material, radiological studies, and histological confirmation was performed at our institution. Cell block material from 24 cystic squamous lesions, including 8 (33%) BCSL (7 branchial cleft cysts and 1 thyroglossal duct cyst[TDC]) and 16 (67%) metastatic SCCs with cystic/liquefactive degeneration, was retrieved and immunostained with anti-GLUT-1. GLUT-1 expression was considered positive when at least 10% of squamous cells exhibited distinct cell membrane reactivity. Positive GLUT-1 immunostaining was detected in all 16 SCCs and in none of the 8 BCSLs. In the carcinoma cases, the majority of malignant cells exhibited GLUT-1 reactivity; only a minor population of well-differentiated SCC cells displaying keratinization and arranged as squamous pearls did not express GLUT-1. GLUT-1 expression in cell block material can help to distinguish cystic SCCs from BCSLs of the head and neck. In conjunction with clinical and radiological correlation, GLUT-1 immunoreactivity can be an important diagnostic aid when the cytological findings are ambiguous. Diagn. Cytopathol. 2004;31:294,299. © 2004 Wiley-Liss, Inc. [source] | |||||||||||||||||||