JAK2-V617F combined with CALR L367fs * 46 mutations in one patient with myeloproliferative neoplasms
10.3760/cma.j.cn114452-20250303-00128
- VernacularTitle:JAK2-V617F合并CALR L367fs*46突变的骨髓增殖性肿瘤1例
- Author:
Yihao LI
1
;
Beili WANG
1
;
Wei GUO
1
Author Information
1. 复旦大学附属中山医院检验科，上海 200032
- Publication Type:Journal Article
- Keywords:
Myeloproliferative neoplasms;
Janus kinase 2 gene V617F mutation;
CALR gene
- From:
Chinese Journal of Laboratory Medicine
2025;48(4):528-531
- CountryChina
- Language:Chinese
-
Abstract:
The patient is a 60 year old male who has been experiencing thrombocytosis for over 2 years. He was treated outside the hospital in August 2023 due to acute myocardial infarction. After he left the hospital, there was still dizziness and persistent elevation of hemoglobin and platelets during follow-up. In November 2023, the patient went to Zhongshan Hospital affiliated with Fudan University for treatment. After admission, elevated platelets and hemoglobin were found, and genetic testing showed positive mutations in JAK2-V617F and CALR gene L367fs * 46, diagnosed as chronic myeloproliferative neoplasms (polycythemia vera and primary thrombocythemia). Discharge order was 0.1 g of hydroxyurea once a day. Follow up after six months showed improvement in hemoglobin and platelets compared with that at admission. This case suggests that classic driver gene mutation testing of myeloproliferative neoplasm is an important indicator for disease diagnosis for patients with thrombocytosis and hemoglobin increase.
