RESUMEN
We report a case of a de novo acute lymphoblastic leukaemia (ALL) with t(9;11) (p21;q23) and a novel translocation t(2;8) (p15;q24). The former is characteristic of acute nonlymphoblastic leukaemia (ANLL) and has rarely been detected in ALL. The blasts showed L2 morphology by the French American British (FAB) classification and pre B ALL immunophenotype.
Asunto(s)
Cromosomas Humanos Par 11 , Cromosomas Humanos Par 9 , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Translocación Genética , Femenino , Humanos , Lactante , CariotipificaciónRESUMEN
A 5-year-old girl with ALL was shown to have a leukemic clone characterized by a triplication and quadruplication of chromosome 21, arranged in tandem, at diagnosis and relapse, respectively. To our knowledge, this is the second report of this chromosomal anomaly in ALL, which was confirmed by in situ staining. The karyotype evolution in the leukemic clone from triplication to quadruplication at relapse emphasizes the association of chromosome 21 with hematopoietic malignancies.
Asunto(s)
Aneuploidia , Cromosomas Humanos Par 21/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Preescolar , Femenino , Humanos , Cariotipificación , Trisomía/genéticaRESUMEN
A 4-year-old boy with chronic myeloid leukemia (CML) was shown to have a variant Ph t(Y;22)(p11;q11). To our knowledge, this is the first report of a variant Ph translocation involving Y. Molecular analysis showed that the breakpoint on chromosome 22 is in the breakpoint cluster region (bcr), typical of CML with the classic t(9;22), suggesting that it might be a complex Ph translocation with the involvement of 9q34.