Author/Authors :
Safaei, Akbar Department of Pathology - Shiraz University of Medical Sciences, Shiraz, Iran , Jansar, Elham Department of Pathology - Shiraz University of Medical Sciences, Shiraz, Iran , Monabati, Ahmad Department of Pathology - Shiraz University of Medical Sciences, Shiraz, Iran , Mokhtari, Maral Department of Pathology - Shiraz University of Medical Sciences, Shiraz, Iran , Montazer, Mehdi Department of Pathology - Shiraz University of Medical Sciences, Shiraz, Iran
Abstract :
Background: Synovial sarcoma is an aggressive soft tissue sarcoma. It has a wide
spectrum of histopathologic patterns and uncertain immunohistochemistry, rendering
it a diagnostic challenge. The objective of this study was to investigate the diagnostic
utility and impact of SS18-SSX rearrangement evaluation in an Iranian population
previously diagnosed with synovial sarcoma without such molecular tests.
Method: We conducted this cross-sectional study on 44 formalin-fixed paraffin-
embedded tissue blocks obtained from 23 synovial sarcoma patients (males, 69%;
mean age, 36.4 years) and 11 cases with other neoplasms as negative controls. We
assessed these specimens for SSX-SS18 gene rearrangement by break-apart fluorescent
in situ hybridization (FISH) probes.
Results: FISH study showed SS18-SSX fusion gene in 17 (73.91%) cases while
six (26.09%) cases and negative controls did not show SS18-SSX fusion. Histopathologic
type of tumor was significantly related to the presence of rearrangement (P=0.002)
(rearranged: 11 biphasic and six monophasic tumors; non-rearranged: three monophasic
and three poorly-differentiated tumors).
Conclusion: This study supports the idea that molecular studies contribute to the
confirmation of synovial sarcoma diagnosis, particularly in monophasic and poorlydifferentiated
subtypes, which show vague immunohistochemical results
Keywords :
Synovial sarcoma , Gene fusion , Fluorescent in situ hybridization , SS18- SSX1 fusion protein
