原发性骨髓纤维化中存在 JAK2、CALR 和 MPL 三阳性驱动突变:病例报告和文献综述。

IF 2 4区 医学 Q3 HEMATOLOGY Hematology Pub Date : 2024-12-01 Epub Date: 2024-09-13 DOI:10.1080/16078454.2024.2402106
Long Zhao, Hao Zhang, Juan Chen, Haizhen Ma, Bei Liu
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引用次数: 0

摘要

背景:原发性骨髓纤维化(PMF原发性骨髓纤维化(PMF)是典型的费城染色体阴性骨髓增殖性肿瘤(MPN)中最晚期的亚型。大多数患者携带三种相互排斥的体细胞驱动突变之一:JAK2(60-65%)、CALR(20-25%)或 MPL(5%)。这些突变同时发生的报道很少。在此,我们报告了一例JAK2、CALR和MPL驱动基因突变三重阳性的病例:一名 69 岁的男性因慢性阻塞性肺疾病(COPD)急性加重入院,发现脾脏肿大和白细胞增多。下一代检测发现JAK2、CALR、MPL突变,以及SF3B1、SRSF2和STAG2的额外变异。患者被诊断为 PMF,并接受了鲁索利替尼和慢性阻塞性肺病治疗。由于恶心,患者减少了鲁索利替尼的剂量。治疗后,脾脏体积缩小,血液学反应不佳。后来又发现了 ASXL1 基因突变。在调整药物和添加止吐药后,患者的病情有所好转:结论:JAK2、CALR和MPL基因突变罕见地同时存在,这对它们相互排斥的假设提出了挑战。对这些突变的进一步研究对于制定更好的治疗策略至关重要。
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Presence of triple positive driver mutations in JAK2, CALR and MPL in primary myelofibrosis: a case report and literature review.

Background: Primary myelofibrosis (PMF) is the most advanced subtype among the classic Philadelphia chromosomenegative myeloproliferative neoplasms (MPNs). A majority of patients carry one of three mutually-exclusive somatic driver mutations: JAK2 (60-65%), CALR (20-25%), or MPL (5%). Co-occurrence of these mutations is rarely reported. Here we report a case with a triple positive combination of JAK2, CALR and MPL driver mutations.

Case presentation: A 69-year-old male was admitted to hospital for acute exacerbation of chronic obstructive pulmonary disease (COPD) and was found to have splenomegaly and leukocytosis. Nextgeneration revealed JAK2, CALR, MPL mutations, and additional variants in SF3B1, SRSF2, and STAG2. The patient was diagnosed with PMF and treated with ruxolitinib and COPD therapy. Due to nausea, the ruxolitinib dose was reduced. After therapy, spleen volume decreased and hematologic responses were poor. Another genetic mutation of ASXL1 was later found. After adjusting the medication and adding antiemetics, the patient's condition improved.

Conclusions: The rare coexistence of JAK2, CALR, and MPL mutations challenges the assumption of their mutual exclusivity. Further study of these mutations is essential for developing better treatment strategies.

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来源期刊
Hematology
Hematology 医学-血液学
CiteScore
2.60
自引率
5.30%
发文量
140
审稿时长
3 months
期刊介绍: Hematology is an international journal publishing original and review articles in the field of general hematology, including oncology, pathology, biology, clinical research and epidemiology. Of the fixed sections, annotations are accepted on any general or scientific field: technical annotations covering current laboratory practice in general hematology, blood transfusion and clinical trials, and current clinical practice reviews the consensus driven areas of care and management.
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