Cabrol C, Abele R
J Genet Hum. 1978 Sep;26(3):195-202.
The authors report the observation of a 76-year-old man who since 1974 had a persistent anaemia considered as a pre-leukaemic state. The patient was hospitalized in May 1977 with fever and severe asthenia. The laboratory results indicated a probable diagnosis of acute non-differentiated leukaemia of stem cells. In spite of treatment, the anaemia grew worse, the leukocytosis accompanied by blast cells became more pronounced, a massive thrombopenia occurred and the patient died in irreversible shock. Cytogenetic examination done on a medullar culture revealed the presence in all the cells of a chromosome No. 5 with the long arms deleted : 46,XY,5q--. This rare medullar anomaly was reported for the first time in 1974-1975 by the Louvain school (Van den Berghe, Sokal, et al.) in a group of refractory anaemias. It has also been described in association with other chromosomal aberrations, in anaemias or other hemopathies which all developed into acute myeloblastic leukaemia. The clinical evolution and the cytogenetic data of the patient presented here are compared with those of other cases of 5q-- published in the literature, and the significance of this 5q-- chromosome aberration in hemopathies is discussed.
作者报告了对一名76岁男性的观察情况，该患者自1974年以来一直患有持续性贫血，被视为白血病前期状态。患者于1977年5月因发热和严重乏力住院。实验室检查结果提示可能诊断为急性非分化干细胞白血病。尽管进行了治疗，但贫血仍加重，伴有原始细胞的白细胞增多变得更加明显，出现大量血小板减少，患者死于不可逆休克。对骨髓培养进行的细胞遗传学检查显示，所有细胞中均存在一条5号染色体，其长臂缺失：46，XY，5q--。这种罕见的骨髓异常于1974 - 1975年由鲁汶学派（范登伯格、索卡尔等人）在一组难治性贫血中首次报道。它也在与其他染色体畸变相关的情况下被描述过，在贫血或其他血液病中，这些疾病最终都发展为急性髓细胞白血病。本文将该患者的临床病程和细胞遗传学数据与文献中发表的其他5q--病例进行了比较，并讨论了这种5q--染色体畸变在血液病中的意义。
