Siebert R, Jhanwar S, Brown K, Berman E, Offit K
Department of Human Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA.
Leukemia. 1995 Jun;9(6):1091-4.
A family is described in which two sisters developed acute myeloblastic leukemia (AML FAB M2) and erythroleukemia (FAB M6) at ages 60 and 53, 15 years apart. Their father was diagnosed as having chronic erythremic myelosis (DiGuglielmo syndrome) 24 years earlier at age 56. Cytogenetic analysis of bone marrow blasts in the patient with AML M2 revealed a complex hyperdiploid karyotype with clonal abnormalities -3, -5, del(5)(q13q23), -8, +i(8)(q10), -11, add(11) (q23), add(12)(p13), -13, +3mar. No environmental risk factors could be identified. Hematologic and cytogenetic analysis of all living first degree relatives of the affected persons revealed hematological abnormalities, but normal constitutional karyotypes of peripheral blood lymphocytes and no induction of cytogenetic abnormalities in folate deficient medium.
本文描述了一个家族，其中两姐妹分别在60岁和53岁时患上急性髓细胞白血病（AML FAB M2）和红白血病（FAB M6），相隔15年。她们的父亲在24年前，即56岁时被诊断为患有慢性红细胞增多性骨髓增生症（迪古列尔莫综合征）。对患有AML M2的患者的骨髓母细胞进行细胞遗传学分析，发现其核型为复杂的超二倍体，伴有克隆性异常——-3、-5、del(5)(q13q23)、-8、+i(8)(q10)、-11、add(11)(q23)、add(12)(p13)、-13、+3mar。未发现环境危险因素。对所有在世的患病者一级亲属进行血液学和细胞遗传学分析，结果显示存在血液学异常，但外周血淋巴细胞的染色体核型正常，且在叶酸缺乏培养基中未诱导出细胞遗传学异常。
