scholarly journals Dual-color, break-apart fluorescence in situ hybridization for EWS gene rearrangement distinguishes clear cell sarcoma of soft tissue from malignant melanoma

2005 ◽  
Vol 18 (12) ◽  
pp. 1585-1590 ◽  
Author(s):  
Rajiv M Patel ◽  
Erinn Downs-Kelly ◽  
Sharon W Weiss ◽  
Andrew L Folpe ◽  
Raymond R Tubbs ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Malignant Melanoma ◽  
Soft Tissue ◽  
Fluorescence In Situ Hybridization ◽  
Gene Rearrangement ◽  
Clear Cell ◽  
Clear Cell Sarcoma ◽  
Cell Sarcoma ◽  
Dual Color

Recurring Translocation (10;17) and Deletion (14q) in Clear Cell Sarcoma of the Kidney

2007 ◽  
Vol 131 (3) ◽  
pp. 446-451 ◽  
Author(s):  
Noel A. Brownlee ◽  
L. Allen Perkins ◽  
Will Stewart ◽  
Beth Jackle ◽  
Mark J. Pettenati ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Tumor Suppressor ◽  
Fluorescence In Situ Hybridization ◽  
Clear Cell ◽  
Clear Cell Sarcoma ◽  
Protein Accumulation ◽  
Cytogenetic Abnormalities ◽  
Cell Sarcoma ◽  
Chromosome 17P13

Abstract Context.—Clear cell sarcoma of the kidney (CCSK) is a prognostically unfavorable renal neoplasm of childhood. Previous cytogenetic studies of CCSK have reported balanced translocations t(10;17)(q22;p13) and t(10;17)(q11; p12). Although the tumor suppressor gene p53 is located at the chromosome 17p13 breakpoint, p53 abnormalities are rarely present in these tumors. Objective.—To identify cytogenetic abnormalities in CCSK and correlate these findings with other clinicopathologic parameters. Design.—A retrospective review of CCSK patients from 1990 to 2005 was conducted at our medical center. We performed clinical and histologic review, p53 immunohistochemical and classic cytogenetics (or ploidy analysis), and p53 fluorescence in situ hybridization analyses. Results.—Five male patients (age range, 6 months to 4 years) were identified with cytogenetic abnormalities. Of 3 cytogenetically informative cases, one revealed a clonal balanced translocation t(10;17)(q22;p13) and an interstitial deletion of chromosome 14, del(14)(q24.1q31.1), and the other 2 patients had normal karyotypes. Fluorescence in situ hybridization for p53 in the t(10;17) case revealed no deletion. Immunohistochemical evaluation of p53 demonstrated lack of nuclear protein accumulation in all cases. Conclusions.—Together with the published literature, our results indicate that translocation (10;17) and interstitial deletions of chromosome 14q are recurring cytogenetic lesions in CCSK. To date, 3 cases of CCSK or “sarcomatoid Wilms tumors” have been reported to exhibit t(10;17). One previously reported case of CCSK contained deletion 14q. Results of p53 immunohistochemistry and/or p53 fluorescence in situ hybridization in this report suggest lack of mutations or deletions of this tumor suppressor in these CCSK cases. The t(10;17) breakpoint and deletion of chromosome 14q24 suggest that other genes are involved in tumor pathogenesis.

Dual-color, break-apart fluorescencein situhybridization probe for distinguishing clear cell sarcoma of soft tissue from malignant melanoma

2014 ◽  
Vol 53 (12) ◽  
pp. 1464-1467 ◽  
Author(s):  
Jung Hee Yoon ◽  
Yoo Sang Baek ◽  
Jiehyun Jeon ◽  
Chil Hwan Oh ◽  
Hae Jun Song
Keyword(s):  
Malignant Melanoma ◽  
Soft Tissue ◽  
Clear Cell ◽  
Clear Cell Sarcoma ◽  
Cell Sarcoma ◽  
Dual Color

Clear cell sarcoma of tendons and aponeuroses, and osteoclast-rich tumour of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts: a review and update

2010 ◽  
Vol 63 (5) ◽  
pp. 416-423 ◽  
Author(s):  
Kemal Kosemehmetoglu ◽  
Andrew L Folpe
Keyword(s):  
Gastrointestinal Tract ◽  
Young Adult ◽  
Malignant Melanoma ◽  
Soft Tissue ◽  
Clear Cell ◽  
Clear Cell Sarcoma ◽  
Soft Tissue Neoplasm ◽  
Cell Sarcoma ◽  
Melanocytic Differentiation ◽  
Gastrointestinal Neoplasm

Clear cell sarcoma (CCS) is a rare, distinctive soft tissue neoplasm, typically occurring in the distal extremities of young adult patients. Although CCS shows melanocytic differentiation, it is now clear that it is clinicopathologically and genetically distinct from conventional malignant melanoma. The ‘osteoclast-rich tumour of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts’ is an extraordinarily rare gastrointestinal neoplasm that shares some features of CCS, but differs from it in other ways. The historical, histopathological, ultrastructural, immunohistochemical and genetic aspects of these two tumours are reviewed in this article.

scholarly journals Clear Cell Sarcoma (Malignant Melanoma of Soft Part): A Rare Soft Tissue Sarcoma

2016 ◽  
Vol 10 (1) ◽  
Author(s):  
Muhammad Abdullah
Keyword(s):  
Malignant Melanoma ◽  
Soft Tissue ◽  
Clear Cell ◽  
Soft Part ◽  
Malignant Neoplasm ◽  
Clear Cell Sarcoma ◽  
Large Tumor ◽  
Tissue Mass ◽  
Cell Sarcoma ◽  
Ultrastructural Studies

Clear cell sarcoma is a rare malignant neoplasm usually presenting as soft tissue mass in foot of young adult. Ultrastructural studies reveal neuroectodermal origin with melanocytic differentiation. Thus it is considered as malignant melanoma of soft parts. Though the prognosis is apparently better as compared to the conventional melanoma, local recurrences and metastases are frequently seen. Large tumor size and extent of necrosis are factors for poor prognosis. A case of clear cell sarcoma with classical presentation is reported.

Utilization of Fluorescence In Situ Hybridization in the Diagnosis of 230 Mesenchymal Neoplasms: An Institutional Experience

2010 ◽  
Vol 134 (12) ◽  
pp. 1797-1803 ◽  
Author(s):  
Munir R. Tanas ◽  
Brian P. Rubin ◽  
Raymond R. Tubbs ◽  
Steven D. Billings ◽  
Erinn Downs-Kelly ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Clear Cell ◽  
Clear Cell Sarcoma ◽  
Low Grade ◽  
Nerve Sheath Tumor ◽  
High Grade ◽  
Round Cell ◽  
Mesenchymal Neoplasms

Abstract Context—Mesenchymal neoplasms harbor characteristic translocations and amplification of gene regions amenable to evaluation by fluorescence in situ hybridization (FISH). Objective—To determine the utility of FISH in the diagnosis of mesenchymal neoplasms. Design—Two hundred thirty soft tissue cases analyzed by FISH were reviewed retrospectively. Results—Morphologic patterns where FISH was used included high-grade round cell sarcomas (n  =  67), nonmyogenic spindle cell sarcomas (n  =  40), low-grade myxoid neoplasms (n  =  34), adipocytic neoplasms (n  =  20), and melanocytic neoplasms (n  =  19). Fifty cases did not fit into the previously mentioned categories. SYT FISH (96% of monophasic synovial sarcomas were positive; 0% of malignant peripheral nerve sheath tumor were positive) and DDIT3 FISH (100% of myxoid/round cell liposarcomas; no other neoplasm positive) were very sensitive and specific. EWSR1 FISH was very sensitive and specific in the differential diagnosis of melanocytic neoplasms (88% of clear cell sarcomas were positive; all melanomas were negative). EWSR1 FISH was sensitive among high-grade round cell sarcomas (positive in 100% of desmoplastic small round cell tumors and 96% of Ewing sarcoma/primitive neuroectodermal tumors) but not specific because clear cell sarcoma, extraskeletal myxoid chondrosarcoma, and a subset of round cell liposarcomas also harbor rearrangements of EWSR1. FUS FISH was very sensitive in detecting low-grade fibromyxoid sarcomas (91% positive) but not specific because most myxoid/round cell liposarcomas also contain rearrangements of FUS. All atypical lipomatous tumors were positive for amplification of MDM2, whereas all lipomas were negative. FOXO1A FISH was positive in ∼70% of cases of alveolar rhabdomyosarcoma. Conclusion—FISH is a useful adjunct in the diagnosis of mesenchymal neoplasms.

scholarly journals Clear Cell Sarcoma of the Premaxillary Soft Tissue: A Case Report

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S29-S30
Author(s):  
C M Tucker ◽  
J Liu ◽  
S M Gargano ◽  
C E Fundakowski
Keyword(s):  
Malignant Melanoma ◽  
Soft Tissue ◽  
Head And Neck ◽  
Tumor Cells ◽  
Clear Cell ◽  
Clear Cell Sarcoma ◽  
Infraorbital Nerve ◽  
Nerve Sheath Tumor ◽  
Cell Sarcoma ◽  
Ewsr1 Rearrangement

Abstract Casestudy: Clear cell sarcoma of soft tissue (CCSST) is a rare translocation-associated sarcoma which uncommonly presents in the head and neck region. Because the tumor expresses markers of melanocytic differentiation, it can be difficult to distinguish from malignant melanoma and epithelioid malignant peripheral nerve sheath tumor (MPNST), necessitating clinical correlation and ancillary testing specifically fluorescence in situ hybridization (FISH) for EWSR1 rearrangement. Here we report a case of CCSST involving the premaxillary soft tissue. A 61-year-old male without significant past medical history presented with a right premaxillary subcutaneous mass which was slowly enlarging over the course of three years. During surgical resection of the mass, the infraorbital nerve was noted to course into the tumor. Histologic sections revealed a 2.5 cm mass composed of a nodular proliferation of epithelioid tumor cells with pale eosinophilic to vacuolated cytoplasm, large vesicular nuclei with prominent nucleoli, areas of punctate necrosis, and a mitotic rate of 10 mitoses per 10 high power fields. Scattered multinucleated tumor giant cells were also present. No pigment was identified. By immunohistochemistry, the tumor cells were diffusely positive for SOX-10 and S-100 and negative for HMB45, MART1, MITF, inhibin, calretinin, p63 and smooth muscle actin. FISH was positive for EWSR1 rearrangement. Altogether, the morphologic, immunohistochemical and cytogenetic findings supported the diagnosis of CCSST. Because the surgical margins were negative for malignancy, the patient did not require additional surgery but will be receiving adjuvant radiation therapy. Although rare in the head and neck, CCSST should be considered in the differential diagnosis when dealing with an epithelioid soft tissue tumor that expresses any melanocytic markers, and a definitive distinction from malignant melanoma and epithelioid MPNST can be achieved by utilizing FISH for EWSR1 rearrangement.

Sign in / Sign up

Export Citation Format

Share Document