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Reciprocal translocations in myelodysplastic syndromes and chronic myelomonocytic leukemias: Review of 5,654 patients with an evaluable karyotype
Author(s) -
Costa Dolors,
Muñoz Concha,
Carrió Ana,
Nomdedeu Meritxell,
Calvo Xavier,
Solé Francesc,
Luño Elisa,
Cervera José,
Vallespí Teresa,
Berneaga Daniela,
Gómez Cándida,
Arias Amparo,
Such Esperanza,
Sanz Guillermo,
Grau Javier,
Insunza Andrés,
Calasanz María J.,
Ardañaz María T.,
Hernández Jesús M.,
Azaceta Gemma,
Álvarez Sara,
Sánchez Joaquín,
Martín María L.,
Bargay Joan,
Gómez Valle,
Cervero Carlos Javier,
Allegue María J.,
Collado Rosa,
Campo Elias,
Nomdedeu Benet
Publication year - 2013
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22071
Subject(s) - chromosomal translocation , karyotype , chronic myelomonocytic leukemia , myelodysplastic syndromes , abnormality , chromosomal abnormality , medicine , biology , chromosome , oncology , genetics , bone marrow , gene , psychiatry
The infrequency of translocations in myelodysplastic syndromes (MDS) and chronic myelomonocytic leukemias (CMML) makes their identification and reporting interesting for the recognition of the recurrent ones and the genes involved in these neoplasias. The aims of this study were to identify new translocations associated with MDS and CMML and to establish their frequency in a cohort of 8,016 patients from the Spanish Group of MDS database. The karyotype was evaluable in 5,654 (70%) patients. Among those, 2,014 (36%) had chromosomal abnormalities, including 213 (10%) translocations identified in 195 patients. The translocations were balanced in 183 (86%) cases and unbalanced in 30 (14%) cases. All chromosomes were found to be involved in translocations, with the single exception of the Y chromosome. The chromosomes most frequently involved were in decreasing frequency: 3, 1, 7, 2, 11, 5, 12, 6, and 17. Translocations were found in karyotypes as the unique chromosomal abnormality (33%), associated with another chromosomal abnormality (11%), as a part of a complex karyotype (17%), and as a part of a monosomal karyotype (38%). There were 155 translocations not previously described in MDS or CMML and nine of them appeared to be recurrent. © 2013 Wiley Periodicals, Inc.