Synovial Sarcoma /SS18 Gene Rearrangement, t(X;18)(p11;q11)

DESCRIPTION – SS18 stands for synovial sarcoma on chromosome 18q11. It is the mutation in synovial sarcoma hence this test is used to test for this diagnosis.

CLINICAL UTILITY – synovial sarcoma accounts for 5-10% of soft-tissue sarcomas. They both t(X;18) (p11.2; q11.2) resulting in the fusion of SYT gene at 18q11 with either the SSX1 or SSX2 gene which is a primary cytogenetic anomaly in 90% of the cases. Detection of this translocation is highly specific for synovial sarcoma. Breaks apart rearrangement assays by FISH has been found more suitable for detection of the t(X;18) in synovial sarcoma, given the presence of multiple partner loci.

METHODOLOGY – fluorescence in situ hybridization (FISH)

TURN AROUND TIME – 12 days

PATIENT PREPARATION –

COLLECT – tumor tissue

SPECIMEN PREPARATION – formalin fixed paraffin embedded tissue block. Protect the slides from excessive heat

STORAGE/TRANSPORT TEMPERATURE – room temperature (18-25 degrees C)

STABILITY – ambient: indefinitely; refrigerated: indefinitely

UNACCEPTABLE CONDITIONS – alternate fixatives and decalcified specimens

MRP – 7000.00

SPECIAL INSTRUCTIONS – clinical history is mandatory including surgical pathology report