title: Reciprocal translocations in myelodysplastic syndromes and chronic myelomonocytic leukemias: review of 5,654 patients with an evaluable karyotype.
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.
authors.affiliation: Unitat d'Hematopatologia, Hospital Clínic, Barcelona, Catalonia, Spain. dcosta@clinic.cat
authors.forename: Dolors
authors.initials: D
authors.lastname: Costa
authors.forename: Concha
authors.initials: C
authors.lastname: Muñoz
authors.forename: Ana
authors.initials: A
authors.lastname: Carrió
authors.forename: Meritxell
authors.initials: M
authors.lastname: Nomdedeu
authors.forename: Xavier
authors.initials: X
authors.lastname: Calvo
authors.forename: Francesc
authors.initials: F
authors.lastname: Solé
authors.forename: Elisa
authors.initials: E
authors.lastname: Luño
authors.forename: José
authors.initials: J
authors.lastname: Cervera
authors.forename: Teresa
authors.initials: T
authors.lastname: Vallespí
authors.forename: Daniela
authors.initials: D
authors.lastname: Berneaga
authors.forename: Cándida
authors.initials: C
authors.lastname: Gómez
authors.forename: Amparo
authors.initials: A
authors.lastname: Arias
authors.forename: Esperanza
authors.initials: E
authors.lastname: Such
authors.forename: Guillermo
authors.initials: G
authors.lastname: Sanz
authors.forename: Javier
authors.initials: J
authors.lastname: Grau
authors.forename: Andrés
authors.initials: A
authors.lastname: Insunza
authors.forename: María J
authors.initials: MJ
authors.lastname: Calasanz
authors.forename: María T
authors.initials: MT
authors.lastname: Ardañaz
authors.forename: Jesús M
authors.initials: JM
authors.lastname: Hernández
authors.forename: Gemma
authors.initials: G
authors.lastname: Azaceta
authors.forename: Sara
authors.initials: S
authors.lastname: Álvarez
authors.forename: Joaquín
authors.initials: J
authors.lastname: Sánchez
authors.forename: María L
authors.initials: ML
authors.lastname: Martín
authors.forename: Joan
authors.initials: J
authors.lastname: Bargay
authors.forename: Valle
authors.initials: V
authors.lastname: Gómez
authors.forename: Carlos Javier
authors.initials: CJ
authors.lastname: Cervero
authors.forename: María J
authors.initials: MJ
authors.lastname: Allegue
authors.forename: Rosa
authors.initials: R
authors.lastname: Collado
authors.forename: Elias
authors.initials: E
authors.lastname: Campo
authors.forename: Benet
authors.initials: B
authors.lastname: Nomdedeu
mesh_terms: D002877:Chromosomes, Human / Q000145:classification / Q000235:genetics*; D006801:Humans; D059785:Karyotype; D015477:Leukemia, Myelomonocytic, Chronic / Q000235:genetics* / Q000473:pathology; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic / Q000235:genetics*