Title of article :
Cryptic t(X;18), ins(6;18), and SYT-SSX2 gene fusion in a case of intraneural monophasic synovial sarcoma
Author/Authors :
Conrad V and Lestou، نويسنده , , Valia S. and OʹConnell، نويسنده , , John X. and Robichaud، نويسنده , , Marc and Salski، نويسنده , , Charis and Mathers، نويسنده , , Joan and Maguire، نويسنده , , John and Chudoba، نويسنده , , Ilse and Sorensen، نويسنده , , Poul H.B. and Lam، نويسنده , , Wan and Horsman، نويسنده , , Douglas E.، نويسنده ,
Abstract :
A 54-year-old male presented with a spontaneous peroneal nerve palsy and a diagnosis of monophasic synovial sarcoma (SS) was rendered by histologic examination. Cytogenetic analysis revealed a complex abnormal karyotype without evidence of the typical t(X;18)(p11;q11) associated with SS. Subsequent reverse transcriptase polymerase chain reaction analysis showed the presence of an SYT/SSX2 fusion transcript, confirming the presence of a cyptic t(X;18). In light of −X, −18 and marker chromosomes evident in the G-band karyotype, it was suspected that a cryptic chromosomal rearrangement involving the marker chromosomes would harbor an X;18 fusion. Multi-colored karytotyping (M-FISH) revealed a previously unrecognized t(X;18) and t(5;19) in the marker chromosomes as well as unrecognized ins(6;18) and t(16;20). The addition of M-FISH analysis in this case led to the identification of complex inter-chromosomal rearrangements, thus providing an accurate karyotype.
