Lee E J, Schiffer C A, Misawa S, Testa J R
Br J Haematol. 1987 Mar;65(3):313-20. doi: 10.1111/j.1365-2141.1987.tb06859.x.
A family is described in which six members developed acute nonlymphocytic leukaemia (ANLL) over the past 15 years, all morphologically FAB M6. Five affected individuals (ages 54-73) are members of a single sibship, the sixth (age 31) was the son of one of the affected sibs. The family lives in a rural area, and no environmental hazard has been identified. One of the six patients never resided in the same geographic area as the others. Three patients with leukaemia died without chemotherapy, two died shortly after the initiation of chemotherapy and the most recent patient never achieved remission, surviving 10 months. Bone marrow specimens from the two most recent patients were analysed for cytogenetic abnormalities using chromosome banding techniques. In addition, skin fibroblasts were examined in a single patient. The fibroblasts had a normal karyotype. Bone marrow cells from both patients had complex abnormalities. Some similarities were observed, including: hypodiploidy; loss of one chromosome 20; the presence of multiple marker chromosomes. In each case one marker appeared to involve the 'missing' no. 20 with an alteration of the long arm--loss (20q-) in one patient and gain (20q+) in the other. Peripheral blood lymphocytes were grown in folate deficient medium, but no evidence for folate sensitive fragile sites was found. Marrow chromosomes from a third leukaemic sibling were examined without banding techniques in 1976 and the karyotype was 45,XY,-18,-F(19 or 20), +marker. No specific cytogenetic finding was common to the three patients studied except for the loss of an F group chromosome. This family is unique in the literature with six cases of familial leukaemia of the same morphologic subtype, and the cytogenetic findings suggest that loss or rearrangement of part of the long arm of a single chromosome 20 may have occurred in each of the three patients examined.
本文描述了一个家族，在过去15年中，该家族的6名成员患了急性非淋巴细胞白血病（ANLL），所有患者的形态学均为FAB M6型。5名患者（年龄54 - 73岁）来自同一同胞组，第6名患者（31岁）是其中一名患病同胞的儿子。这个家族生活在农村地区，未发现任何环境危害因素。6名患者中有1名从未与其他患者居住在同一地理区域。3名白血病患者未接受化疗死亡，2名患者在化疗开始后不久死亡，最近的1名患者从未缓解，存活了10个月。使用染色体显带技术对最近2名患者的骨髓标本进行了细胞遗传学异常分析。此外，对1名患者的皮肤成纤维细胞进行了检查，其核型正常。两名患者的骨髓细胞均有复杂异常。观察到一些相似之处，包括：亚二倍体；20号染色体一条缺失；存在多个标记染色体。在每种情况下，有一个标记似乎涉及“缺失”的20号染色体，且长臂发生改变——一名患者为长臂缺失（20q -），另一名患者为长臂增加（20q +）。外周血淋巴细胞在叶酸缺乏的培养基中培养，但未发现叶酸敏感脆性位点的证据。1976年，对第三名白血病同胞的骨髓染色体未采用显带技术进行检查，其核型为45,XY,-18,-F(19或20), +标记。除了F组染色体的缺失外，所研究的3名患者没有共同的特定细胞遗传学发现。该家族在文献中很独特，有6例相同形态学亚型的家族性白血病，细胞遗传学结果表明，在接受检查的3名患者中，可能均发生了20号染色体长臂部分的缺失或重排。
