PMID- 20470941 OWN - NLM STAT- MEDLINE DCOM- 20100812 LR - 20131121 IS - 1873-5487 (Electronic) IS - 0188-4409 (Linking) VI - 41 IP - 2 DP - 2010 Feb TI - Detection of fusion genes in formalin-fixed paraffin-embedded tissue sections of rhabdomyosarcoma by RT-PCR and fluorescence in situ hybridization in Mexican patients. PG - 119-24 LID - 10.1016/j.arcmed.2010.02.005 [doi] AB - BACKGROUND AND AIMS: Rhabdomyosarcoma (RMS) is a pediatric tumor whose classification is based on histological criteria according to two main subgroups, embryonal RMS (ERMS) and alveolar RMS (ARMS). The majority but not all ARMS carry the specific PAX3(7)/FKHR translocation. The type of translocation in patients with ARMS defines the prognosis. METHODS: We retrospectively analyzed 30 cases of ARMS in Mexican patients and evaluated the fusion status of the genes using RT-PCR and fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded tissues (FFPET). RESULTS: From 25 samples (83%) with optimal RNA quality, RT-PCR revealed 15 cases (50%) with the t(2;13)/PAX3-FKHR. Only one case (3%) was positive to t(1;13)/PAX7-FKHR and nine cases (30%) were fusion-negative. Correspondingly, using FISH, the t(2;13)/PAX3-FKHR was found positive in 19 cases (63.5%), one case (3%) revealed the t(1;13)/PAX7/FKHR and ten cases (33.5%) were fusion-negative by this method. Five cases were not evaluable by RT-PCR but recovered by FISH. Only four of the total revealed t(2;13); the other was fusion-negative. CONCLUSIONS: FISH technique is more sensitive when FFPET is used to describe the chromosomal translocation of ARMS. These Latino patients showed an association of the t(2;13) in older patients (mean: 9 years) and negative translocation in younger patients (mean: 4 years) (p <0.05). Both t(2;13) and negative-fusion were present in patients with clinical stages III and IV (p <0.05). There was a nonsignificant trend of t(2;13) to lower overall survival than negative-fusion status. CI - Copyright 2010 IMSS. Published by Elsevier Inc. All rights reserved. FAU - Eguia-Aguilar, Pilar AU - Eguia-Aguilar P AD - Departamento de Patologia, Hospital Infantil de Mexico Federico Gomez, Mexico, D.F., Mexico. FAU - Ponce-Castaneda, Veronica AU - Ponce-Castaneda V FAU - Najera-Garcia, Nayelli AU - Najera-Garcia N FAU - Nieto-Martinez, Karem AU - Nieto-Martinez K FAU - Kofman-Alfaro, Susana AU - Kofman-Alfaro S FAU - Sadowinski-Pine, Stanislaw AU - Sadowinski-Pine S FAU - Valencia-Mayoral, Pedro AU - Valencia-Mayoral P FAU - Arenas-Huertero, Francisco AU - Arenas-Huertero F FAU - Perezpena-Diazconti, Mario AU - Perezpena-Diazconti M LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Arch Med Res JT - Archives of medical research JID - 9312706 RN - 0 (Recombinant Fusion Proteins) RN - 1HG84L3525 (Formaldehyde) SB - IM MH - Child MH - Formaldehyde MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Kaplan-Meier Estimate MH - Mexico MH - Paraffin Embedding MH - Recombinant Fusion Proteins/*genetics MH - Retrospective Studies MH - Reverse Transcriptase Polymerase Chain Reaction/*methods MH - Rhabdomyosarcoma/classification/*genetics/mortality/pathology EDAT- 2010/05/18 06:00 MHDA- 2010/08/13 06:00 CRDT- 2010/05/18 06:00 PHST- 2009/10/30 00:00 [received] PHST- 2010/01/25 00:00 [accepted] PHST- 2010/05/18 06:00 [entrez] PHST- 2010/05/18 06:00 [pubmed] PHST- 2010/08/13 06:00 [medline] AID - S0188-4409(10)00012-3 [pii] AID - 10.1016/j.arcmed.2010.02.005 [doi] PST - ppublish SO - Arch Med Res. 2010 Feb;41(2):119-24. doi: 10.1016/j.arcmed.2010.02.005.