PMID- 9973919 OWN - NLM STAT- MEDLINE DCOM- 19990225 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 108 IP - 1 DP - 1999 Jan 1 TI - A combined cytogenetic and molecular approach to diagnosis in a case of desmoplastic small round cell tumor with a complex translocation (11;22;21). PG - 19-25 AB - Desmoplastic small round cell tumor (DSRCT) has recently been described as a discrete tumor entity. It is distinguished from other small round cell tumors by its prominent desmoplastic quality, its preponderance in adolescent males, its almost exclusive intraabdominal location, a multi-immunophenotypic profile, and its aggressive nature. Diagnosis on histology alone is not always unequivocal. A recurrent t(11;22)(p13;q12) translocation has recently been described in this tumor, and a chimeric RNA fusion product formed from the WT1 and EWS genes is detectable by reverse transcriptase-polymerase chain reaction (RT-PCR). We describe the use of a multi-faceted approach using conventional G-banding, fluorescence in situ hybridization (FISH) and RT-PCR to assist the diagnosis of a case of DSRCT with a complex variant t(11;22;21)(p13;q12;q22.1) translocation and demonstrate the value of a combined approach to genetic investigation of solid tumors. FAU - Roberts, P AU - Roberts P AD - Regional Cytogenetics Unit, St. James's University Hospital, Leeds, UK. FAU - Burchill, S A AU - Burchill SA FAU - Beddow, R A AU - Beddow RA FAU - Wheeldon, J AU - Wheeldon J FAU - Cullinane, C AU - Cullinane C FAU - Lewis, I J AU - Lewis IJ LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (DNA-Binding Proteins) RN - 0 (Heterogeneous-Nuclear Ribonucleoproteins) RN - 0 (RNA-Binding Protein EWS) RN - 0 (Ribonucleoproteins) RN - 0 (Transcription Factors) RN - 0 (WT1 Proteins) SB - IM MH - Abdominal Neoplasms/*diagnosis/*genetics/pathology/surgery MH - Adolescent MH - Base Sequence MH - Bone Marrow/pathology MH - Carcinoma, Small Cell/*diagnosis/*genetics/pathology/surgery MH - Chromosome Mapping MH - *Chromosomes, Human, Pair 11 MH - *Chromosomes, Human, Pair 21 MH - *Chromosomes, Human, Pair 22 MH - DNA-Binding Proteins/genetics MH - Diagnosis, Differential MH - Exons MH - Genes, Wilms Tumor MH - Heterogeneous-Nuclear Ribonucleoproteins MH - Humans MH - In Situ Hybridization, Fluorescence/methods MH - Male MH - Molecular Sequence Data MH - RNA-Binding Protein EWS MH - Reverse Transcriptase Polymerase Chain Reaction MH - Ribonucleoproteins/genetics MH - Transcription Factors/genetics MH - *Translocation, Genetic MH - WT1 Proteins EDAT- 1999/02/12 00:00 MHDA- 1999/02/12 00:01 CRDT- 1999/02/12 00:00 PHST- 1999/02/12 00:00 [pubmed] PHST- 1999/02/12 00:01 [medline] PHST- 1999/02/12 00:00 [entrez] AID - S0165460898001034 [pii] AID - 10.1016/s0165-4608(98)00103-4 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 1999 Jan 1;108(1):19-25. doi: 10.1016/s0165-4608(98)00103-4.