Wong Kit Fai, Yu Pui Hung, Wong Wai Shan
Department of Pathology, Queen Elizabeth Hospital, Hong Kong SAR, China.
Cancer Genet Cytogenet. 2010 Aug;201(1):39-41. doi: 10.1016/j.cancergencyto.2010.04.019.
A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was diagnosed to have essential thrombocythemia upon the demonstration of JAK2 V617F mutation. Bone marrow examination, however, showed the presence of monolobulated megakaryocytes and conventional cytogenetic analysis revealed an isolated interstitial deletion of the long arm of chromosome 5, characteristic of 5q- syndrome. A literature review indicated that isolated deletion of 5q is uncommon in essential thrombocythemia but that, when this isolated deletion is present, the disease often shows mixed features of both essential thrombocythemia and 5q- syndrome.
一名66岁男性，表现为进行性显著血小板增多但血红蛋白正常，在检测到JAK2 V617F突变后被诊断为原发性血小板增多症。然而，骨髓检查显示存在单核叶巨核细胞，常规细胞遗传学分析显示5号染色体长臂存在孤立的间质缺失，这是5q-综合征的特征。文献综述表明，5q孤立缺失在原发性血小板增多症中并不常见，但当出现这种孤立缺失时，疾病常表现出原发性血小板增多症和5q-综合征的混合特征。
