克兰费尔特综合征合并慢性髓性白血病

Chronic myeloid leukemia in case of Klinefelter syndrome.

作者信息

Chennuri Vasundhara, Kashyap Rajesh, Tamhankar Parag, Phadke Subha

机构信息

Departments of Hematology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

出版信息

Indian J Hum Genet. 2014 Jan;20(1):69-71. doi: 10.4103/0971-6866.132760.

DOI:10.4103/0971-6866.132760

PMID:24959017

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4065482/

Abstract

Klinefelter syndrome (KS) is a sex chromosome disorder and has been reported to be associated with increased risk for malignancies. We report a 22-year-old male patient who was diagnosed to have chronic myeloid leukemia in chronic phase. Bone marrow cytogenetic examination revealed karyotype 47, XXY, t (9; 22)(q34, q11) suggestive of KS with presence of Philadelphia chromosome. The patient was treated with oral imatinib mesylate (400 mg/day). Complete hematological response was achieved after 2 months of therapy. The bcr-abl/abl transcript percentage measured from peripheral blood at baseline, 1 and 2 years after imatinib were 97%, 1.99%, 0.007%, respectively. He remains in complete hematological and major molecular remission after 2 years of continued imatinib therapy.

摘要

克兰费尔特综合征（KS）是一种性染色体疾病，据报道其患恶性肿瘤的风险增加。我们报告一名22岁男性患者，其被诊断为慢性期慢性髓性白血病。骨髓细胞遗传学检查显示核型为47, XXY，t（9；22）（q34，q11），提示患有KS并存在费城染色体。该患者接受口服甲磺酸伊马替尼（400毫克/天）治疗。治疗2个月后达到完全血液学缓解。在伊马替尼治疗前、治疗1年和2年后，从外周血测得的bcr-abl/abl转录本百分比分别为97%、1.99%、0.007%。在持续伊马替尼治疗2年后，他仍处于完全血液学缓解和主要分子缓解状态。