scholarly journals Detection of specific gene rearrangements by fluorescence in situ hybridization in 16 cases of clear cell sarcoma of soft tissue and 6 cases of clear cell sarcoma-like gastrointestinal tumor

2018 ◽  
Vol 13 (1) ◽  
Author(s):  
Keiko Segawa ◽  
Shintaro Sugita ◽  
Tomoyuki Aoyama ◽  
Terufumi Kubo ◽  
Hiroko Asanuma ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Soft Tissue ◽  
Fluorescence In Situ Hybridization ◽  
Clear Cell ◽  
Clear Cell Sarcoma ◽  
Specific Gene ◽  
Gene Rearrangements ◽  
Gastrointestinal Tumor ◽  
Cell Sarcoma

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.

scholarly journals The Therapeutic Approach of Soft – Tissue Sarcomas. A 12 Cases Analysis

2018 ◽  
Vol 1 (Supplement) ◽  
pp. 58
Author(s):  
V. Georgeanu ◽  
T. Atasiei ◽  
D. Gartonea ◽  
B. Shazam ◽  
G. Goleşteanu ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Local Recurrence ◽  
Synovial Sarcoma ◽  
Therapeutic Approach ◽  
Clear Cell ◽  
Postoperative Radiotherapy ◽  
Soft Tissue Sarcomas ◽  
Clear Cell Sarcoma ◽  
Cell Sarcoma ◽  
Special Cases

Abstract Introduction. Soft Tissue Sarcomas (STS) is a group of rare malignant tumors with mesenchymal tissue origin. At present, over 50 histopathological types with typical chromosome changes are described. Treatment is multidisciplinary, centered on the surgical approach. Method. Between 2014 and 2016, 12 STS cases were treated in our clinic: 3 liposarcomas, 2 synovial sarcomas, 1 angiosarcoma, 2 rhabdomyosarcomas, 2 myxofibrosarcomas, 1 fibroblast sarcoma and 1 clear cell sarcoma. With the exception of angiosarcoma that benefited only from chemotherapy, the other cases were surgically approached, followed by radiotherapy in 7 cases, and chemotherapy in one case. Results. Patient follow-up was for a minimum of 2 years. In 3 cases (fibroblast sarcoma, clear-cell sarcoma, synovial sarcoma), a local recurrence occurred between 3 and 9 months. In 2 cases (fibroblastic sarcoma, synovial sarcoma), pulmonary metastases occurred between 6 and 18 months and the patients died at 8 months and 2 years respectively. The rest of the cases were clinically and imagistically assessed (local MRI, lung CT) at 6 months for at least 2 years and showed no signs of local recurrence or metastasis. Conclusions. The evolution of STS depends on the histological type and to the stage of diagnosis (local extension, degree of differentiation and presence of metastases). Therapeutic approach should be centered on an accurate resection, within the limits of oncological safety even with re-resection. Postoperative radiotherapy is used in most of the cases, and chemotherapy is reserved for special cases with unfavorable local evolution or metastasis.

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