Secker-Walker L M, Hawkins J M, Prentice H G, Mackie P H, Heerema N A, Provisor A J
Department of Haematology, Royal Free Hospital and School of Medicine, London, U.K.
Cancer Genet Cytogenet. 1993 Oct 15;70(2):148-50. doi: 10.1016/0165-4608(93)90189-s.
Two males with Down syndrome and acute lymphoblastic leukemia with the acquired translocation, t(8;14)(q11;q32), are described. In each case the constitutional karyotype was 47,XY,+21. The patients were, respectively, aged 3 years 11 months and 32 years, with presenting white blood counts 34 and 1.9 x 10(9)/L with blasts of FAB L1 and L2. In each case immunophenotype of the blasts was C-ALL. The child is alive and well and in first remission 6 years from diagnosis. In contrast, the adult patient died in first remission 8.5 months from diagnosis with severe pancytopenia. These are to our knowledge the second and third cases of ALL with t(8;14)(q11-12;q32) associated with a constitutional genetic disorder.
本文描述了两名患有唐氏综合征且患有急性淋巴细胞白血病并伴有后天性易位t(8;14)(q11;q32)的男性患者。每例患者的染色体核型均为47,XY,+21。两名患者年龄分别为3岁11个月和32岁，初诊时白细胞计数分别为34和1.9×10⁹/L，原始细胞分别为FAB L1和L2型。每例患者原始细胞的免疫表型均为普通型急性淋巴细胞白血病（C-ALL）。该儿童目前存活且状况良好，自诊断起已缓解6年。相比之下，成年患者在诊断后8.5个月死于首次缓解期，伴有严重全血细胞减少症。据我们所知，这是第二例和第三例与先天性遗传疾病相关的伴有t(8;14)(q11 - 12;q32)的急性淋巴细胞白血病病例。
