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一名真性红细胞增多症、3P 缺失和 JAK2 V617F 突变患者发生胃癌。

The development of gastric cancer in a patient with polycythemia Vera, 3P deletion, and JAK2 V617F mutation.

作者信息

Ayvaz Ozlem, Yavasoglu Irfan, Kadikoylu Gurhan, Meydan Nezih, Barutca Sabri, Bolaman Zahit

机构信息

Division of Hematology, Adnan Menderes University Medical Faculty, 09100 Aydin, Turkey.

出版信息

J Gastrointest Cancer. 2010 Dec;41(4):254-6. doi: 10.1007/s12029-010-9142-3.

Abstract

3p deletion which is frequently associated with solitary tumors and hematological malignancies is a chromosomal abnormality. Recently, Janus kinase-2 (JAK2) V617F mutation has an important role in the diagnosis of myeloproliferative disorders, especially in polycythemia vera (PV). We reported the development of gastric cancer in a 75-year-old patient with PV, 3p 12-14 deletion and JAK2 V617F mutation. PV was diagnosed according to the classification of World Health Organization. JAK2 V617F mutation with polymerase chain reaction and 3p12-14 deletion with cytogenetic examination of the bone marrow were detected. We investigated solitary tumors in the patient using computed tomographies of thorax, neck, ear, nose, and throat. However, they were normal. After 2 years, gastric cancer appeared in the patient. In conclusion, cytogenetic examination may be important in both the development and the diagnosis of hematological malignancies and solitary tumors. So the patients should be followed closely.

摘要

3p缺失是一种染色体异常,常与孤立性肿瘤和血液系统恶性肿瘤相关。最近,Janus激酶2(JAK2)V617F突变在骨髓增殖性疾病的诊断中发挥重要作用,尤其是在真性红细胞增多症(PV)中。我们报告了一名75岁PV患者发生胃癌,该患者存在3p 12 - 14缺失和JAK2 V617F突变。PV根据世界卫生组织的分类进行诊断。通过聚合酶链反应检测到JAK2 V617F突变,通过骨髓细胞遗传学检查检测到3p12 - 14缺失。我们使用胸部、颈部、耳、鼻和喉部的计算机断层扫描对该患者的孤立性肿瘤进行了检查。然而,检查结果均正常。2年后,该患者出现了胃癌。总之,细胞遗传学检查在血液系统恶性肿瘤和孤立性肿瘤的发生及诊断中可能都很重要。因此,应对患者进行密切随访。

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