Mertens F, Sallerfors B, Heim S, Johansson B, Kristoffersson U, Malm C, Mitelman F
Department of Clinical Genetics, Lund University Hospital, Sweden.
Cancer Genet Cytogenet. 1991 Oct 1;56(1):39-44. doi: 10.1016/0165-4608(91)90360-7.
Four patients with acute leukemia displayed trisomy 13 as the primary chromosome abnormality. The two patients with acute nonlymphocytic leukemia FAB-type M1 (ANLL-M1) had the karyotypes 47,XY,+13/48,XY,+13,+13 and 47,XX,+13, a patient with the hypogranular form of ANLL M3 had 47,XX,+13, and the fourth patient, who had acute undifferentiated leukemia (AUL), had the karyotype 47,XY,+13/48,XY,+8,+13. Including these four cases, a total of 24 hematologic neoplasms with an extra chromosome 13 as the sole aberration have now been reported. Except for the AUL, all have been of myeloid origin--20 ANLL, one myelodysplastic syndrome, and two chronic myeloproliferative disorders. Trisomy 13 as the sole acquired karyotypic abnormality therefore seems to be strongly associated with myeloid differentiation of the neoplastic cells and with a differentiation block leading to acute leukemia.
四名急性白血病患者表现出13号染色体三体作为主要染色体异常。两名急性非淋巴细胞白血病FAB分型M1（ANLL-M1）患者的核型分别为47,XY,+13/48,XY,+13,+13和47,XX,+13，一名低颗粒型ANLL M3患者核型为47,XX,+13，第四名患者患有急性未分化白血病（AUL），其核型为47,XY,+13/48,XY,+8,+13。包括这四例在内，目前共报道了24例以额外的13号染色体作为唯一畸变的血液系统肿瘤。除AUL外，所有病例均起源于髓系——20例ANLL、1例骨髓增生异常综合征和2例慢性骨髓增殖性疾病。因此，13号染色体三体作为唯一获得性核型异常似乎与肿瘤细胞的髓系分化以及导致急性白血病的分化阻滞密切相关。
