scholarly journals Review of the medical literature and assessment of current utilization patterns regarding the use of two common fluorescence in situ hybridization assays in the diagnosis of dermatofibrosarcoma protuberans and clear cell sarcoma

2018 ◽  
Vol 45 (12) ◽  
pp. 905-913 ◽  
Author(s):  
Konstantinos Linos ◽  
Jessica A. Kozel ◽  
Maria Yadira Hurley ◽  
Aleodor A. Andea
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Medical Literature ◽  
Clear Cell ◽  
Dermatofibrosarcoma Protuberans ◽  
Clear Cell Sarcoma ◽  
Cell Sarcoma ◽  
Utilization Patterns ◽  
Current Utilization

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.

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.

Primary Clear Cell Sarcoma of the Tongue

2013 ◽  
Vol 137 (11) ◽  
pp. 1680-1683 ◽  
Author(s):  
Stefan Kraft ◽  
Cristina R. Antonescu ◽  
Andrew E Rosenberg ◽  
Daniel G. Deschler ◽  
G. Petur Nielsen
Keyword(s):  
Soft Tissues ◽  
Clear Cell ◽  
S100 Protein ◽  
Neck Region ◽  
Clear Cell Sarcoma ◽  
Giant Cells ◽  
Cell Sarcoma ◽  
Node Metastases ◽  
Type Giant

Clear cell sarcoma shares features with melanoma, but frequently shows EWSR1 rearrangements. It is an aggressive tumor typically occurring in the soft tissues of the extremities, with a gastrointestinal variant with less consistent melanocytic differentiation. It is extremely rare in the head and neck region, with no reported cases in the oral cavity. We report a case of an 82-year-old woman with a clear cell sarcoma arising in the tongue, with cervical lymph node metastases. Histologically, the tumor showed some features of gastrointestinal clear cell sarcoma. No osteoclast-type giant cells were present. The tumor cells were positive for S100 protein and negative for other melanocytic markers. Fluorescence in situ hybridization showed rearrangements of EWSR1 and ATF1. This case expands the spectrum of clear cell sarcoma with a gastrointestinal-like variant in a novel site, emphasizing the need to consider it as a differential diagnosis to melanoma in mucosal sites.

scholarly journals Fluorescence in situ hybridization analysis is a helpful test for the diagnosis of dermatofibrosarcoma protuberans

2014 ◽  
Vol 28 (2) ◽  
pp. 230-237 ◽  
Author(s):  
Marie Karanian ◽  
Gaëlle Pérot ◽  
Jean-Michel Coindre ◽  
Frédéric Chibon ◽  
Florence Pedeutour ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Dermatofibrosarcoma Protuberans ◽  
Hybridization Analysis ◽  
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