父亲患伴有MPL W515L突变的家族性原发性血小板增多症，女儿患伴有JAK2 V617F突变的家族性原发性血小板增多症。
Familial Essential Thrombocythemia Associated with MPL W515L Mutation in Father and JAK2 V617F Mutation in Daughter.
作者信息
Trifa Adrian P, Cucuianu Andrei, Popp Radu A
机构信息
Department of Medical Genetics, "Iuliu Hatieganu" University of Medicine and Pharmacy, 400349 Cluj-Napoca, Romania.
Department of Haematology, "Ion Chiricuta" Cancer Institute, Cluj-Napoca, Romania.
出版信息
Case Rep Hematol. 2014;2014:841787. doi: 10.1155/2014/841787. Epub 2014 Nov 10.
Abstract
Familial essential thrombocythemia features the acquisition of somatic mutations and an evolution similar to the sporadic form of the disease. Here we report two patients-father and daughter-with essential thrombocythemia who displayed a heterogeneous pattern of somatic mutations. The JAK2 V617F mutation was found in the daughter, while the father harbored the MPL W515L mutation. This case report may constitute further proof that in familial essential thrombocythemia there are other, still undefined, constitutional, inherited genetic factors predisposing to the acquisition of various somatic mutations (e.g., JAK2 V617F and MPL).
摘要
家族性原发性血小板增多症具有体细胞突变的获得以及与散发性疾病形式相似的演变过程。在此，我们报告两名患有原发性血小板增多症的患者——父女，他们表现出体细胞突变的异质性模式。女儿检测到JAK2 V617F突变，而父亲携带MPL W515L突变。该病例报告可能进一步证明，在家族性原发性血小板增多症中，存在其他尚未明确的构成性、遗传性遗传因素，易导致获得各种体细胞突变（如JAK2 V617F和MPL）。
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