Sawyer J R, Roloson G J, Head D R, Becton D
Department of Pathology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock 72202.
Med Pediatr Oncol. 1994;22(6):404-9. doi: 10.1002/mpo.2950220610.
We report the serial cytogenetic study of a patient with Down syndrome who experienced a congenital leukemoid reaction, underwent a spontaneous remission within four months, and subsequently developed acute myeloid leukemia at 16 months. A blood chromosome study to rule out Down syndrome performed at age 24 days, during the leukemoid reaction, revealed a 47,XX,+21 karyotype. The diagnosis of acute leukemia was made at 16 months, at which time a chromosome study, on bone marrow, was performed. This analysis revealed a clonal karyotype of 47,XX,+21,-22,+der(22)t(1;22)(q21;q13) in all but one cell studied. The single apparently nonclonal cell showed a karyotype of 49,XX,+12,-13,-19,+der(19)t(19;?)(q11;?)x2,+21,+22. A third chromosome study at 19 months indicated the original leukemic clone with t(1;22) (q21;q13) had been replaced by the clone represented by the single cell with 49 chromosomes seen in the previous chromosome study. This case of an infant with Down syndrome and acute leukemia illustrated rapid evolution and a transitory nature to clonal chromosome aberrations while retaining AML morphology and course.
我们报告了一例唐氏综合征患者的系列细胞遗传学研究。该患者出现先天性类白血病反应，在四个月内自发缓解，随后在16个月时发展为急性髓系白血病。在24天龄时，即在类白血病反应期间，为排除唐氏综合征而进行的血液染色体研究显示核型为47,XX,+21。16个月时确诊为急性白血病，此时对骨髓进行了染色体研究。该分析显示，在所有研究的细胞中，除一个细胞外，克隆核型均为47,XX,+21,-22,+der(22)t(1;22)(q21;q13)。单个明显非克隆细胞的核型为49,XX,+12,-13,-19,+der(19)t(19;?)(q11;?)x2,+21,+22。19个月时的第三次染色体研究表明，先前染色体研究中所见的具有49条染色体的单细胞所代表的克隆已取代了原始的具有t(1;22)(q21;q13)的白血病克隆。这例患有唐氏综合征和急性白血病的婴儿病例说明了克隆染色体畸变的快速演变和短暂性质，同时保留了急性髓系白血病的形态和病程。
