Reciprocal translocations in myelodysplastic syndromes and chronic myelomonocytic leukemias: Review of 5,654 patients with an evaluable karyotype |
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| Authors: | Dolors Costa,Concha Mu oz,Ana Carri ,Meritxell Nomdedeu,Xavier Calvo,Francesc Sol ,Elisa Lu o,Jos Cervera,Teresa Vallespí ,Daniela Berneaga,C ndida G mez,Amparo Arias,Esperanza Such,Guillermo Sanz,Javier Grau,Andr s Insunza,Marí a J. Calasanz,Marí a T. Arda az,Jesú s M. Hern ndez,Gemma Azaceta,Sara lvarez,Joaquí n S nchez,Marí a L. Martí n,Joan Bargay,Valle G mez,Carlos Javier Cervero,Marí a J. Allegue,Rosa Collado,Elias Campo,Benet Nomdedeu |
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| Affiliation: | 1. Unitat d'Hematopatologia, Hospital Clínic, , Barcelona, Catalonia, Spain;2. Department d'Hematologia, Hospital Clínic, , Barcelona, Catalonia, Spain;3. Institut de Recerca contra la Leucèmia Josep Carreras, , Badalona, Catalonia, Spain;4. Hospital Central de Asturias, , Asturias, Spain;5. Hospital Universitario La Fe, , Valencia, Spain;6. Hospital Vall d'Hebrón, , Barcelona, Catalonia, Spain;7. Hospital Germans Trias i Pujol, , Badalona, Catalonia, Spain;8. Hospital Marqués de Valdecillas, , Santander, Spain;9. Universidad de Navarra, , Navarra, Spain;10. Hospital Txagorritxu, , Vitoria, Spain;11. Hospital Universitario de Salamanca, , Salamanca, Spain;12. Hospital Clínico Universitario de Zaragoza, , Zaragoza, Spain;13. Centro Nacional de Investigaciones Oncológicas, , Madrid, Spain;14. Servicio de Hematología, Hospital Universitario Reina Sofia, Cordoba, Spain;15. Servicio de Genética, Hospital Doce de Octubre, , Madrid, Spain;16. Servicio de Hematología, Hospital Son LLàtzer, , Mallorca, Spain;17. Servicio de Hematología, Hospital Universitario de la Princesa, , Madrid, Spain;18. Servicio de Hematología, Hospital Virgen de la Luz, , Cuenca, Spain;19. Servicio de Hematología, Complexo Hospitalario de Pontevedra, , Pontevedra, Spain;20. Servicio de Hematología, Hospital General de Valencia, , Valencia, Spain |
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| Abstract: | 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. |
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