Does monosomy 5 really exist in myelodysplastic syndromes and acute myeloid leukemia?
Abnormalities of chromosome 5 are common aberrations in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), being del(5q) the most frequent. In contrast, monosomy 5 is not so frequent and, usually, is associated with complex karyotypes, conferring poor prognosis. The aim of this study was to analyze, by FISH for 5q31 (EGR1), a series of 28 MDS and AML cases with monosomy 5 detected by G-banding. FISH results revealed deletion of 5q31 in 24 of them (85.7%) and monosomy 5 just in three. FISH for 5q31 can complement conventional cytogenetics and improve the karyotype definition, leading to a better diagnostic and prognostic stratification.
Galván
Ana Belén
AB
Laboratori de Citogenètica Molecular. Servei de Patologia, Parc Salut Mar. GRETNHE, IMIM-Hospital del Mar, Barcelona, Spain.
Mallo
Mar
M
Arenillas
Leonor
L
Salido
Marta
M
Espinet
Blanca
B
Pedro
Carmen
C
Florensa
Lourdes
L
Serrano
Sergi
S
Solé
Francesc
F
D002895:Chromosomes, Human, Pair 5; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000235:genetics*