ArticleJournal of hematology & oncology2014
The mutation profile of JAK2 and CALR in Chinese Han patients with Philadelphia chromosome-negative myeloproliferative neoplasms.
Article in Journal of hematology & oncology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Pooled it
- Mutational landscape of classical myeloproliferative neoplasms in the Western Cape Province, South Africa.African journal of laboratory medicine · 2026Article
- Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts.medRxiv : the preprint server for health sciences · 2025Article
- The Janus kinase 2 (JAK2) Mutation Burden is Related to Hematological Outcomes in Thai Patients with Myeloproliferative Neoplasms.Asian Pacific journal of cancer prevention : APJCP · 2025Article
- Management of classical Philadelphia chromosome-negative myeloproliferative neoplasms in Asia: consensus of the Asian Myeloid Working Group.Clinical and experimental medicine · 2023Review
- Expression properties, structural features and functional analysis of CALR E381A in MPN patients.American journal of translational research · 2023Article
- TET2 Mutation May Be More Valuable in Predicting Thrombosis in ET Patients Compared to PV Patients: A Preliminary Report.Journal of clinical medicine · 2022Article
- Detection of single-base mutation of DNA oligonucleotides with different lengths by terahertz attenuated total reflection microfluidic cell.Biomedical optics express · 2020Article
- An exploratory study comparing students' science identity perceptions derived from a hands-on research and nonresearch-based summer learning experience.Biochemistry and molecular biology education : a bimonthly publication of the International Union of Biochemistry and Molecular Biology · 2020Article
- Correlation analysis between JAK2, MPL, and CALR mutations in patients with myeloproliferative neoplasms of Chinese Uygur and Han nationality and their clinical characteristics.The Journal of international medical research · 2018Article
- Increased B cell activation is present in JAK2V617F-mutated, CALR-mutated and triple-negative essential thrombocythemia.Oncotarget · 2017Article
- The Mutation Profile of Calreticulin in Patients with Myeloproliferative Neoplasms and Acute Leukemia.Turkish journal of haematology : official journal of Turkish Society of Haematology · 2016Article
- Coexistence of JAK2 and CALR mutations and their clinical implications in patients with essential thrombocythemia.Oncotarget · 2016Article
- JAK2 V617F, MPL, and CALR Mutations in Korean Patients with Essential Thrombocythemia and Primary Myelofibrosis.Journal of Korean medical science · 2015Article
- [CALR gene mutation detection and clinical observation of 150 essential thrombocythemia patients].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2015Article
- Calreticulin (CALR) mutation in myeloproliferative neoplasms (MPNs).Stem cell investigation · 2015Review
- Clinical relevance between CALR mutation and myeloproliferative neoplasms.Stem cell investigation · 2015Review
- Frequencies, Laboratory Features, and Granulocyte Activation in Chinese Patients with CALR-Mutated Myeloproliferative Neoplasms.PloS one · 2015Article
- Somatic mutations of calreticulin in a Brazilian cohort of patients with myeloproliferative neoplasms.Revista brasileira de hematologia e hemoterapiaArticle
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in JAK2, MPL and CALR are highly relevant to the Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPNs). We performed high resolution melting analysis and Sanger sequencing together with T-A cloning to elucidate the unique mutation profile of these genes, in Chinese patients with MPNs. Peripheral blood DNA samples were obtained from 80 patients with polycythemia vera (PV), 80 patients with essential thrombocytosis (ET) and 50 patients with primary myelofibrosis (PMF). Ten PV patients were identified with diverse JAK2 exon 12 mutations. Five novel JAK2 Exon 12 mutation patterns (M532V/E543G, N533D, M535I/H538Y/K549I, E543G and D544N) were described. JAK2 V617F was detected in 140 samples (66 PV, 45 ET and 29 PMF). JAK2 Exon 12 mutations were prevalent (13%) and variable in the Chinese patients. Compared with PV patients with JAK2 V617F mutations, PV patients with JAK2 exon 12 mutations had an earlier median onset of disease (P = 0.0013). MPL W515L/K mutations were discerned in 4 ET and 3 PMF patients. Two kinds of CALR mutation, c. 1179_1230del and c. 1234_1235insTTGTC were detected in 20 ET and 16 PMF patients. A novel CALR mutation pattern (c. 1173_1223del/c. 1179_1230del) was identified in 2 PMF samples. In addition, 17 scattered point mutations in CALR c.1153 to c.1255 were also detected in 13 cases with CALR frame-shifting variations and 2 cases without CALR frame-shifting variations. Female patients showed a predisposition to CALR mutations (P = 0.0035). Chinese Ph-negative MPN patients have a unique mutation landscape in the common molecular markers of MPN diagnosis. Validation of the molecular diagnostic pipeline should be emphasized since there is a considerable ethnical diversity in the molecular profiles of Ph-negative MPNs.
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