Poppe B, Van Limbergen H, Van Roy N, Vandecruys E, De Paepe A, Benoit Y, Speleman F
Center for Medical Genetics, De Pintelaan 185, B-9000 Gent, Belgium.
Cancer Genet Cytogenet. 2001 Jul 1;128(1):39-42. doi: 10.1016/s0165-4608(01)00392-2.
Bloom syndrome (BS) predisposes affected individuals to a wide variety of neoplasms including hematological malignancies. Thus far, cytogenetic findings in hematological neoplasms have been reported in only a few BS patients. We present the karyotypic findings in a BS patient diagnosed with acute myeloid leukemia (AML), FAB subtype M1, and a review of the literature, showing the preferential occurrence of total or partial loss of chromosome 7 in BS patients with AML or myelodysplastic syndromes (MDS).
布卢姆综合征（BS）使受影响个体易患多种肿瘤，包括血液系统恶性肿瘤。迄今为止，仅在少数BS患者中报道了血液系统肿瘤的细胞遗传学发现。我们报告了一例被诊断为急性髓系白血病（AML）、FAB亚型M1的BS患者的核型分析结果，并对文献进行了综述，结果显示在患有AML或骨髓增生异常综合征（MDS）的BS患者中，7号染色体全部或部分缺失的情况较为常见。
