| Research Abstract |
1) Supernumeraryring chromosomeand nuclear blebsin some low-grade malignant soft tissue tumors : atypical lipomatous tumorsand dermatofibrosarcoma protuberans
Chromosomeslides were prepared from 123 samples of soft tissue tumors Supernumeraryring chromosomeswere foundin 6 cases of soft tissue tumors including 5 cases of atypical lipomatous tumors (ALT) [atypical intramuscular lipoma, 1 ; well differentiated liposarcoma, 4 (lipoma-like type, 2 ; sclerosing type, 1 ; inflammatory type, 1)] and one case of dermatofibrosarcoma protuberans (DFSP). By chromosome painting with fluorescence in situ hybridization (FISH), the ring chromosomein one ALT was painted over its entire length with the chromosome 12 probe. Our findings suggest that supernumeraryring chromosomes are characteristic of somelow-grade soft tissue neoplasms including ALT and DFSP.
2) Synovial sarcoma of the prostate with t(X ; 18)(p11.2 ; q11.2)
Synovial sarcoma is a tumor of unknown origin, although this neoplasm is a clinicall
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y and morphologically well-defined entity that has been shown to comprise 8% of all soft tissue sarcomas. The cytogenetic and RT-PCR detection of t(X ; 18)(p11.2 ; q11.2) and SYT-SSX is considered to be a highly sensitive diagnostic marker for synovial sarcoma. Using these techniques, we could diagnose a primary synovial s sarcoma occurring in the prostate.
3) Primitive neuroectodermaltumor (PNET)
PNET is very rare in the kidney. We reported two cases of renal PNET, in which the diagnosis was established by both cytogenetic and molecular analysis. In each tumor, the cytogenetic analysis with in situ hybridization (chromosomepainting) demonstrated reciprocal translocation t(11 ; 22)(q24 ; q12) specific to PNET. The RT-PCR in both tumors demonstrated EWS/FLI-1 fusion transcripts, representing the molecular equivalent of t(11 ; 22).
4) Interphase fluorescence in situ hybridization (FISH) for the detection of chimeric genes
By using FISH technique applied in paraffin-embedded tissue samples of small roundcell tumors, we have detected chimeric EWS-FLI1 in interphase nuclei of PNET and E wing sarcomas. This technique may be utilized for the accurate diagnosis and differential diagnosis of small cell tumorsin children and young adults. Less
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