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المؤلفNajim, Mostafa
المؤلفAbu-Tineh, Mohammad
المؤلفAlshurafa, Awni
المؤلفIbrahim, Mohamed Izham Mohamed
المؤلفAnsari, Soubiya
المؤلفFaraj, Hazem
المؤلفAlateeg, Saif
المؤلفAkiki, Susanna Jane
المؤلفYassin, Mohamed A.
تاريخ الإتاحة2024-08-28T04:23:45Z
تاريخ النشر2024
اسم المنشورHematology (United Kingdom)
المصدرScopus
الرقم المعياري الدولي للكتاب10245332
معرّف المصادر الموحدhttp://dx.doi.org/10.1080/16078454.2024.2360246
معرّف المصادر الموحدhttp://hdl.handle.net/10576/58249
الملخصBackground: Myeloproliferative neoplasms (MPNs) are hematological disorders characterized by abnormal production of myeloid cells due to genetic mutations. Since 2013, researchers have identified somatic mutations in the Calreticulin (CALR) gene, primarily insertions or deletions, in two Philadelphia chromosome-negative MPNs; essential thrombocytosis (ET) and primary myelofibrosis (PMF), and occasionally in chronic myelomonocytic leukemia (CMML). This study aims to identify the various types of CALR mutations and their impact on CALR-positive MPN patients' clinical manifestations and outcomes. Methods: A single-center retrospective study was conducted. The data was collected from pre-existing records. The study was carried out on Philadelphia-negative MPN patients who were being followed up on at the NCCCR (National Center for Cancer Care and Research) to assess the clinical manifestation and outcome of disease treatment. All patients included, were followed in our center between January 1, 2008, and November 20, 2021. Results: A total of 50 patients with CALR-positive MPN were reviewed with a median follow-up of three years (1-11). This cohort included 31 (62%) patients with ET, 10 (20%) patients with PMF, and 9 (18%) patients with prefibrotic myelofibrosis (pre-MF). The study involved 38 (76%) male and 12 (24%) female patients. There were 16 (32%) patients diagnosed before the age of 40, 24 (48%) patients diagnosed between the ages of 40 and 60; and 10 (20%) patients diagnosed after the age of 60. Molecular analysis showed 24 (48%) patients with CALR type 1, 21 (42%) patients with CALR type 2, and 5 (10%) patients with none Type 1, none Type 2 CALR mutations. Two patients have double mutations; 1(2%) with none Type 1, none Type 2 CALR and JAK2 mutations, and 1(2%) with CALR type 1 and MPL mutations. The thrombotic events were 3 (6%) venous thromboembolisms, 3 (6%) abdominal veins thromboses, 2 (4%) strokes, and 4 (8%) ischemic cardiac events. Only 4 (8%) patients progressed to Myelofibrosis and were carrying CALR 1 mutations, and 1 (2%) patient progressed to AML with CALR 2 mutation. Conclusion: The data shows a significant rise in CALR-positive MPN diagnoses in younger people, emphasizing the need for a better assessment tool to improve disease management and reduce complications.
راعي المشروعOpen Access funding provided by the Qatar National Library. We acknowledge the contributions of cytogenetic and molecular lab for their significant Contribution.
اللغةen
الناشرTaylor and Francis Ltd.
الموضوعCALR mutation
essential thrombocytosis
myelofibrosis
Myeloproliferative neoplasms
thrombosis
العنوانThe characteristics of CALR mutations in myeloproliferative neoplasms: a clinical experience from a tertiary care center in Qatar and a literature review
النوعArticle
رقم العدد1
رقم المجلد29
dc.accessType Open Access


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