CALR, JAK2, and MPL Mutation Profiles in Patients With Four Different Subtypes of Myeloproliferative Neoplasms Primary Myelofibrosis, Essential Thrombocythemia, Polycythemia Vera, and Myeloproliferative Neoplasm, Unclassifiable
CALR, JAK2, and MPL Mutation Profiles in Patients With Four Different Subtypes of Myeloproliferative Neoplasms Primary Myelofibrosis, Essential Thrombocythemia, Polycythemia Vera, and Myeloproliferative Neoplasm, Unclassifiable
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DOI：
10.1309/ajcpuaac16liwzmm
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发表时间：
2015-05-01
影响因子：
3.5
通讯作者：
Lee, Dong Soon
中科院分区：
文献类型：
--
作者：
Kim, Seon Young;Im, Kyongok;Lee, Dong Soon
目的：研究199例韩国骨髓增生性肿瘤(MPN)患者的CALR、JAK2和MPL基因突变情况。方法：对199例MPN患者(原发性骨髓纤维化54例，原发性血小板增多症79例，真性红细胞增多症58例，MPN-U 8例)和4例急性泛髓病伴骨髓纤维化(APMF)患者进行了CALR、JAK2和MPL基因的Sanger测序。2型突变9例)：MPN-U最常见(37.5%)，其次为ET(17.7%)和PMF(14.8%)。在PV和APMF中未发现CALR突变。CALR和JAK2或MPL突变是互斥的。在PMF中，CALR突变与白细胞水平降低、骨髓细胞密度降低和巨核细胞数量增加有关。与JAK2突变的患者相比，CALR突变的ET患者更容易进展到加速期或急变期。CALR突变常见于JAK2阴性的MPN，以Mew-U最为常见。结论：CALR突变在不同的MPN亚型中的预后意义可能不同。
Objectives: We investigated mutation profiles of CALR, JAK2, and MPL in 199 Korean patients with myeloproliferative neoplasms (MPNs).Methods: In total, 199 patients with MPN (54 primary myelofibrosis [PM?], 79 essential thrombocythemia [ET], 58 polycythemia vera [PV], and eight MPN-unclassifiable [MPN-U]) and 4 patients with acute panmyelosis with myelofibrosis (APMF) were retrospectively subjected to Sanger sequencing for CALR, JAK2, and MPL.Results: The overall frequency of CALR mutations was 12.6% (type 1 mutation, 16 patients; type 2 mutation, nine patients): most frequent in MPN-U (37.5%), followed by ET (17.7%) and PMF (14.8%). CALR mutations were not found in PV or APMF. CALR and JAK2 or MPL mutations were mutually exclusive. In PMF, the CALR mutations were associated with lower levels of leukocytes, lower bone marrow cellularity, and higher number of megakaryocytes. Patients with CALR-mutated ET more frequently progressed to the accelerated or blast phases compared with patients with JAK2 mutations. CALR mutations were frequently observed in the JAK2-negative MPNs, most frequently in MEW-U.Conclusions: The prognostic significance of CALR mutations likely differs among the MPN subtypes.