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儿童慢性髓性白血病中的染色体异常

Chromosome abnormalities in chronic myeloid leukemia in children.

作者信息

Puchkova G P, Prigogina E L, Fleischmann E W, Drosdova T S, Mayakova S A, Peterson I S

出版信息

Hum Genet. 1983;64(3):257-62. doi: 10.1007/BF00279405.

Abstract

Banded chromosomes of leukemic cells were studied in 53 children with chronic myeloid leukemia (CML). Ph1 chromosome was found in 21 children, and the remaining 32 cases were Ph1 negative. Besides Ph1 translocation additional chromosomal abnormalities, including marker i(17q), were revealed in three of eight children studied in blastic crisis of Ph1 positive CML. Leukemic cells of most patients with Ph1 negative CML possessed normal karyotype. Clones with chromosomal abnormalities were found in 12 of 32 cases. Most characteristic were monosomy 7 (in four children) and trisomy 8 (in three). Abnormal karyotype may be a bad prognostic sign in Ph1 negative CML. The presented data confirm the difference in age of appearance, bone marrow pattern and clinical course between Ph1 positive ("adult") and Ph1 negative (juvenile) types of CML in children. Probable prenatal commencement of CML in babies and children in the first years of life is discussed.

摘要

对53例慢性粒细胞白血病(CML)患儿的白血病细胞带型染色体进行了研究。21例患儿发现有Ph1染色体,其余32例为Ph1阴性。在8例处于Ph1阳性CML急变期的患儿中,有3例除了Ph1易位外还发现了其他染色体异常,包括标记染色体i(17q)。大多数Ph1阴性CML患者的白血病细胞具有正常核型。32例中有12例发现了具有染色体异常的克隆。最常见的是7号染色体单体(4例患儿)和8号染色体三体(3例)。异常核型在Ph1阴性CML中可能是不良预后标志。所提供的数据证实了儿童中Ph1阳性(“成人型”)和Ph1阴性(幼年型)CML在发病年龄、骨髓模式和临床病程方面的差异。还讨论了婴儿和儿童在生命最初几年可能的CML产前发病情况。

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