真性红细胞增多症合并FIP1L1-PDGFRA阳性嗜酸性粒细胞增多性骨髓增殖性肿瘤病例。

Case of polycythemia vera concurrent with FIP1L1-PDGFRA-positive myeloproliferative neoplasm with eosinophilia.

作者信息

Alrwas Anas, Quesada Jorge R, Marcos Luis A, Mehta Shivang S, Shattuck Brandy L, Nguyen Nghia D, Juneja Harinder S

机构信息

Department of Melanoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

出版信息

Cancer Genet. 2012 Oct;205(10):519-22. doi: 10.1016/j.cancergen.2012.05.010. Epub 2012 Sep 1.

DOI:10.1016/j.cancergen.2012.05.010

PMID:22944561

Abstract

We report an unusual case of a symptomatic patient who initially had high hemoglobin and low serum erythropoietin levels, fitting a clinical diagnosis of polycythemia vera. However, after treatment with hydroxyurea and serial phlebotomies had been started, the patient developed hypereosinophilia, fitting the category of a myeloproliferative neoplasm with eosinophilia associated with the FIP1L1-PDGFRA gene fusion, as confirmed by molecular analysis. We discuss the clinical presentation, evolution, response to treatment, and pathogenetic implications of this case.

摘要

我们报告了一例不寻常的病例，该有症状患者最初血红蛋白水平高而血清促红细胞生成素水平低，符合真性红细胞增多症的临床诊断。然而，在开始使用羟基脲治疗并进行系列放血治疗后，患者出现了嗜酸性粒细胞增多症，符合伴有FIP1L1-PDGFRA基因融合的嗜酸性粒细胞增多性骨髓增殖性肿瘤的类别，分子分析证实了这一点。我们讨论了该病例的临床表现、病情演变、对治疗的反应以及发病机制。