JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms.

Pub Date : 2023-09-30 eCollection Date: 2023-07-01 DOI:10.25100/cm.v54i3.5353
Ana Isabel Giraldo-Rincón, Sara Naranjo Molina, Natalia Gomez-Lopera, Daniel Aguirre Acevedo, Andrea Ucroz Benavidez, Kenny Gálvez Cárdenas, Francisco Cuellar Ambrosí, Jose Domingo Torres, Sigifredo Ospina, Katherine Palacio, Lina Gaviria Jaramillo, Carlos Mario Muñeton, Gonzalo Vasquez Palacio
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Abstract

Background: Among the chronic myeloproliferative neoplasms (MPNs) not associated with BCR-ABL mutations are polycythemia vera, primary myelofibrosis, and essential thrombocythemia. These diseases are caused by mutations in genes, such as the JAK2, MPL, and CALR genes, which participate in regulating the JAK-STAT signaling pathway.

Objective: This study aimed to establish the frequencies of mutations in the JAK2, MPL, and CALR genes in a group of Colombian patients with a negative clinical diagnosis of BCR-ABL chronic myeloproliferative neoplasms.

Methods: The JAK2 V617F and MPL W515K mutations and deletions or insertions in exon 9 of the CALR gene were analyzed in 52 Colombian patients with polycythemia vera, primary myelofibrosis, and essential thrombocythemia.

Results: The JAK2V617F mutation was carried by 51.9% of the patients, the CALR mutation by 23%, and the MPL mutation by 3.8%; 23% were triple-negative for the mutations analyzed. In these neoplasms, 6 mutation types in CALR were identified, one of which has not been previously reported. Additionally, one patient presented a double mutation in both the CALR and JAK2 genes. Regarding the hematological results for the mutations, significant differences were found in the hemoglobin level, hematocrit level, and platelet count among the three neoplasms.

Conclusion: Thus, this study demonstrates the importance of the molecular characterization of the JAK2, CALR and MPL mutations in Colombian patients (the genetic context of which remains unclear in the abovementioned neoplasms) to achieve an accurate diagnosis, a good prognosis, adequate management, and patient survival.

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哥伦比亚 BCR-ABL 阴性骨髓增殖性肿瘤患者的 JAK2、CALR 和 MPL 基因突变概况。
背景:与 BCR-ABL 基因突变无关的慢性骨髓增殖性肿瘤(MPNs)包括真性红细胞增多症、原发性骨髓纤维化和原发性血小板增多症。这些疾病是由参与调节 JAK-STAT 信号通路的 JAK2、MPL 和 CALR 等基因突变引起的:本研究旨在确定一组临床诊断为阴性 BCR-ABL 慢性骨髓增生性肿瘤的哥伦比亚患者的 JAK2、MPL 和 CALR 基因突变频率:方法:对52名患有真性红细胞增多症、原发性骨髓纤维化和原发性血小板增多症的哥伦比亚患者的JAK2 V617F和MPL W515K突变以及CALR基因第9外显子的缺失或插入进行了分析:结果:51.9%的患者携带JAK2V617F基因突变,23%的患者携带CALR基因突变,3.8%的患者携带MPL基因突变;23%的患者在所分析的基因突变中呈三阴性。在这些肿瘤中,发现了 6 种 CALR 突变类型,其中一种以前从未报道过。此外,一名患者的 CALR 和 JAK2 基因出现了双重突变。关于突变的血液学结果,三种肿瘤的血红蛋白水平、血细胞比容水平和血小板计数均存在显著差异:因此,本研究表明,对哥伦比亚患者的 JAK2、CALR 和 MPL 基因突变(上述肿瘤的遗传背景仍不清楚)进行分子鉴定对于准确诊断、良好预后、适当治疗和患者生存具有重要意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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