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Genetic and Clinical Characteristics of Patients with Philadelphia-Negative Myeloproliferative Neoplasm Carrying Concurrent Mutations in , and

التفاصيل البيبلوغرافية
العنوان: Genetic and Clinical Characteristics of Patients with Philadelphia-Negative Myeloproliferative Neoplasm Carrying Concurrent Mutations in , and
المؤلفون: Yan Wang MM, Fei Ran MM, Jin Lin PhD, Jing Zhang MM, Dan Ma PhD
المصدر: Technology in Cancer Research & Treatment, Vol 22 (2023)
بيانات النشر: SAGE Publishing, 2023.
سنة النشر: 2023
المجموعة: LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens
مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
الوصف: Simultaneous mutations in Janus kinase 2 ( JAK2) , calreticulin , and myeloproliferative leukemia (MPL) genes are generally not considered for characterizing Philadelphia-negative myeloproliferative neoplasms (MPNs), leading to misdiagnosis. Sanger sequencing and quantitative polymerase chain reaction were used to detect gene mutations in patients with MPN. We retrospectively screened the data of patients with double mutations in our center and from the PubMed database. Two patients tested positive for both JAK2V617F and CALR mutations (2/352 0.57%) in our center, while data of 35 patients from the PubMed database, including 26 patients with essential thrombocythemia (ET), 6 with primary myelofibrosis (PMF), 2 with unexplained thrombosis, and 1 with polycythemia vera were screened for double mutations. Among these mutations, co-mutation of JAKV617F-CALR constituted the majority (80.0%), when compared with JAKV617F-MPL (17.1%) and CALR-MPL (2.9%) mutations. Moreover, patients with concurrent mutational myeloproliferative neoplasm (MPN) were relatively older ( P = .010) with significantly higher platelet counts than their counterparts with single gene mutations ( P
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1533-0338
15330338
Relation: https://doaj.org/toc/1533-0338
DOI: 10.1177/15330338231154092
URL الوصول: https://doaj.org/article/d5895a596e2b46f9b2a3ab7515f4a711
رقم الأكسشن: edsdoj.5895a596e2b46f9b2a3ab7515f4a711
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:15330338
DOI:10.1177/15330338231154092