一名患有塞克尔综合征的患者发生急性髓系白血病。
Acute myeloid leukaemia in a patient with Seckel syndrome.
作者信息
Hayani A, Suarez C R, Molnar Z, LeBeau M, Godwin J
机构信息
Department of Pediatrics, Loyola University Medical Center, University of Chicago Stritch School of Medicine, Maywood, IL 60153.
出版信息
J Med Genet. 1994 Feb;31(2):148-9. doi: 10.1136/jmg.31.2.148.
Abstract
We report a female patient with Seckel syndrome who developed acute myeloid leukaemia at the age of 26 years. Analysis of bone marrow chromosomes showed an abnormal clone with abnormalities involving multiple chromosomes, including monosomy 7, trisomy 8, trisomy 11, and loss of the long arm of chromosome 5. After treatment with chemotherapy, the patient experienced severe toxicity with profound bone marrow aplasia and died of pneumonia two months later. We suggest that patients with Seckel syndrome may be at risk of developing myelodysplasia and acute myeloid leukaemia. They may also have poor tolerance to cytotoxic therapy.
摘要
我们报告了一名患有塞克尔综合征的女性患者，她在26岁时患上了急性髓系白血病。骨髓染色体分析显示存在一个异常克隆，涉及多条染色体异常，包括7号染色体单体、8号染色体三体、11号染色体三体以及5号染色体长臂缺失。化疗后，患者出现严重毒性反应，伴有严重的骨髓再生障碍，两个月后死于肺炎。我们认为，塞克尔综合征患者可能有发生骨髓发育异常和急性髓系白血病的风险。他们对细胞毒性治疗的耐受性也可能较差。
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