TY - JOUR
T1 - Detection of Fusion Genes in Formalin-fixed Paraffin-embedded Tissue Sections of Rhabdomyosarcoma by RT-PCR and Fluorescence In Situ Hybridization in Mexican Patients
AU - Eguía-Aguilar, Pilar
AU - Ponce-Castañeda, Verónica
AU - Nájera-García, Nayelli
AU - Nieto-Martínez, Karem
AU - Kofman-Alfaro, Susana
AU - Sadowinski-Pine, Stanislaw
AU - Valencia-Mayoral, Pedro
AU - Arenas-Huertero, Francisco
AU - Perezpeña-Diazconti, Mario
N1 - Funding Information:
We thank Dr. Frederic G. Barr who kindly donated cell lines for both translocations and Maria Zielenska for the knowledge she shared. Also, we acknowledge Children's Hospital & Research Center at Oakland (CHRCO) as the source for the clone material, reference number 5920. This work was supported by Federal Grant SSA 692 and Fundación Río Arronte .
PY - 2010/2
Y1 - 2010/2
N2 - 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.
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.
KW - Alveolar rhabdomyosarcoma
KW - Childhood
KW - FISH
KW - RT-PCR
KW - Sarcoma
KW - Translocation
UR - http://www.scopus.com/inward/record.url?scp=77952765722&partnerID=8YFLogxK
U2 - 10.1016/j.arcmed.2010.02.005
DO - 10.1016/j.arcmed.2010.02.005
M3 - Artículo
SN - 0188-4409
VL - 41
SP - 119
EP - 124
JO - Archives of Medical Research
JF - Archives of Medical Research
IS - 2
ER -