Cryptic t(X;18), ins(6;18), and SYT-SSX2 gene fusion in a case of intraneural monophasic synovial sarcoma.
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.
Lestou
Valia S
VS
Department of Pathology and Laboratory Medicine, British Columbia Cancer Agency, BC, Vancouver, Canada. vlestou@bccancer.bc.ca
O'Connell
John X
JX
Robichaud
Marc
M
Salski
Charis
C
Mathers
Joan
J
Maguire
John
J
Chudoba
Ilse
I
Sorensen
Poul H B
PH
Lam
Wan
W
Horsman
Douglas E
DE
D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013584:Sarcoma, Synovial / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic / Q000235:genetics
D015514:Oncogene Proteins, Fusion; C116512:SYT-SSX fusion protein