Atypical myeloproliferative neoplasm with concurrent BCR-ABL1 fusion and CALR mutation
نویسندگان
چکیده
منابع مشابه
Mutational Analysis of SH2B3 in Korean Patients With BCR-ABL1 Negative Myeloproliferative Neoplasm
Namhee Kim, M.D., In-Suk Kim, M.D., Chulhun Ludgerus Chang, M.D., Eun Yup Lee, M.D., Hyung Hoi Kim, M.D., Moo-Kon Song, M.D., Ho-Jin Shin, M.D., and Joo Seop Chung, M.D. Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Yangsan Hospital, Yangsan; Research Institute for Convergence of Biomedical Science and Technology, Pusan National Unive...
متن کاملCALR mutation characterization in myeloproliferative neoplasms
Identification of somatic frameshift mutations in exon 9 of the calreticulin gene (CALR) in myeloproliferative neoplasms (MPNs) in December of 2013 has been a remarkable finding. It has provided a new molecular diagnostic marker, particularly in essential thrombocythemia (ET) and primary myelofibrosis (PMF), where is the second most common altered gene after JAK2V617F. There are two main types ...
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Paroxysmal nocturnal hemoglobinuria (PNH), a disease characterized by intravascular hemolysis, thrombosis, and bone marrow failure, is associated with mutations in the PIG-A gene, resulting in a deficiency of glycosylphosphatidylinositol-anchored proteins. Many hypotheses have been posed as to whether PNH and PIG-A mutations result in an intrinsic survival benefit of CD55(-)/CD59(-) cells or an...
متن کاملRisk-Reducing Genetic Variant of Wilms Tumor 1 Gene rs16754 in Korean Patients With BCR-ABL1-Negative Myeloproliferative Neoplasm
The genetic variant rs16754 of Wilms tumor gene 1 (WT1) has recently been described as an independent prognostic factor in AML patients. It is of great interest to test whether WT1 single nucleotide polymorphism can be used as a molecular marker in other types of cancer, to improve risk and treatment stratification. We performed sequencing analysis of exons 7 and 9 of WT1, which are known mutat...
متن کاملMyeloproliferative Disorders BCR-ABL1—Negative Myeloproliferative Neoplasms: A Review of Molecular Biology, Diagnosis, and Treatment
In 2008, the World Health Organization expanded the classification of myeloproliferative disorders based on increasing amounts of molecular and cytogenetic data. Myeloproliferative neoplasms (MPN) that do not contain the BCR-ABL1 mutation include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). JAK2V617F is the best characterized mutation in BCR-ABL1–nega...
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ژورنال
عنوان ژورنال: Medicine
سال: 2020
ISSN: 0025-7974,1536-5964
DOI: 10.1097/md.0000000000018811