Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy.
Am J Hematol. 2012 Jul;87(7):746-7. doi: 10.1002/ajh.23229. Epub 2012 May 6.
JAK2 (V617F) is associated with a genetic predisposition to its acquisition,as it is preferentially found in subjects with a common constitutional JAK2 haplotype known as 46/1 or GGCC. A recent study suggests that a genetic predisposition to acquisition of MPL mutation may exist in sporadic patients, since an association was found with the JAK2 46/1 haplotype. We genotyped 509 patients with myeloproliferative neoplasms (MPN), 7% of which carrying a somatic mutation of MPL Exon 10. We found that the JAK2 GGCC haplotype was closely associated with JAK2 (V617F) (OR 1.84, P < 0.001) but not with MPL mutations (OR 0.98), suggesting a different genetic background for these molecular lesions.
JAK2（V617F）与获得性遗传易感性相关，因为它主要存在于具有常见的 JAK2 单倍型 46/1 或 GGCC 的受试者中。最近的一项研究表明，散发性患者可能存在获得 MPL 突变的遗传易感性，因为与 JAK2 46/1 单倍型存在关联。我们对 509 例骨髓增殖性肿瘤（MPN）患者进行了基因分型，其中 7%的患者携带 MPL 外显子 10 的体细胞突变。我们发现 JAK2 GGCC 单倍型与 JAK2（V617F）密切相关（OR 1.84，P < 0.001），但与 MPL 突变无关（OR 0.98），提示这些分子病变具有不同的遗传背景。
