TY - JOUR ID - 57597 TI - Fluorescence in Situ Hybridization (FISH) for Differential Diagnosis of Soft Tissue Sarcomas JO - Asian Pacific Journal of Cancer Prevention JA - APJCP LA - en SN - 1513-7368 AU - Asif, Amna AU - Mushtaq, Sajid AU - Hassan, Usman AU - Akhter, Noreen AU - Hussain, Mudassar AU - Azam, Muhammad AU - Qazi, Romena AD - Department of Pathology, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan. Y1 - 2018 PY - 2018 VL - 19 IS - 3 SP - 655 EP - 660 KW - Ewing sarcoma KW - Dedifferentiated liposarcoma KW - Rhabdomyosarcoma KW - Synovial sarcoma KW - soft tissue sarcomas DO - 10.22034/APJCP.2018.19.3.655 N2 - Introduction:Soft tissue sarcomas are rare tumors comprising 1 percent of solid malignancies. The latest editionof WHO soft tissue pathology lists 94 benign and malignant soft tissue tumors. Many of these show a large degreeof morphological overlap. Immunohistochemistry has been shown to be reliable in many cases for differential diagnosisof lesions, although cytogenetic tests are considered the gold standard for many entities.Fluorescence in-situ hybridization(FISH) is a cytogenetic technique that uses fluorescent probes that bind to only those parts of the chromosome whichhave a high degree of sequence complementarity. Many soft tissue tumors show recurrent genetic mutations that arenow being used as diagnostic markers. Knowledge of the molecular identity allows prediction of behavior, prognosisand treatment response. Objective:The aim of this study was to identify genetic mutations in soft tissue sarcomas usingFISH testing and to assess correlations with histological diagnosis. Material and methods:A total of 25 cases of differentsoft tissue sarcomas diagnosed on histology with the help of immunohistochemical staining and for which FISH studieswere requested were included in this study. Three pathologists with a special interest in soft tissue sarcomas reviewedthe cases. FISH tests for EWS, the X:18 translocation, FOXO1 and MDM2 were respectively applied for 8 cases ofEwing sarcoma, 8 cases of synovial sarcoma, 2 cases of rhabdomyosarcoma and 7 cases of dedifferentiated liposarcomaand atypical lipomatous tumors/well differentiated liposarcomas. Results:EWS gene fusion was detected in 7 out of8 cases of Ewing sarcoma and the X:18 translocation was positive in 3 of the 8 cases of synovial sarcoma. FOXO1was not detected in either of the two rhabdomyosarcomas. MDM2 by FISH was detected in only one out of 5 cases ofatypical lipomatous tumors and 1 out of 2 dedifferentiated liposarcomas. Conclusion: FISH is a useful adjunct in thediagnostic assessment of different types of soft tissue sarcomas. It is easy to set up, is relatively inexpensive and hasthe ability to diagnose sarcomas with great accuracy, especially in cases which can not be accurately classified evenafter thorough histological and immunohistochemical evaluation. It may play a very important role in the accuratediagnosis and correct management of patients. UR - https://journal.waocp.org/article_57597.html L1 - https://journal.waocp.org/article_57597_13e8d3443858f2476a95d62fe5be6e11.pdf ER -