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Am J Clin Pathol 2015 May;143(5):635-44

From the Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea; and Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.

Objectives: We investigated mutation profiles of CALR, JAK2, and MPL in 199 Korean patients with myeloproliferative neoplasms (MPNs).

Methods: In total, 199 patients with MPN (54 primary myelofibrosis [PMF], 79 essential thrombocythemia [ET], 58 polycythemia vera [PV], and eight MPN-unclassifiable [MPN-U]) and 4 patients with acute panmyelosis with myelofibrosis (APMF) were retrospectively subjected to Sanger sequencing for CALR, JAK2, and MPL.

Results: The overall frequency of CALR mutations was 12. Read More

Blood 2014 Oct 18;124(16):2507-13; quiz 2615. Epub 2014 Jul 18.

Laboratorio Congiunto MMPC, Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy;

Janus kinase 2 (JAK2) mutations define polycythemia vera (PV). Calreticulin (CALR) and myeloproliferative leukemia virus oncogene (MPL) mutations are specific to JAK2-unmutated essential thrombocythemia (ET) and primary myelofibrosis (PMF). We examined the effect of these mutations on long-term disease outcome. Read More

Indian J Pathol Microbiol 2018 Apr-Jun;61(2):209-213

Tata Memorial Centre, Hematopathology Laboratory, Mumbai, Maharashtra, India.

Introduction: Over the past decade, we have moved on from a predominantly morphological and clinical classification of myeloproliferative neoplasms (MPN) to a more evolved classification that accounts for the molecular heterogeneity that is unique to this subgroup of hematological malignancies. This usually incorporates mutations in Janus kinase 2 (JAK2), MPL, and calreticulin (CALR) genes. In this manuscript, we report the frequency of these mutations in a cohort of Indian patients at a tertiary cancer center. Read More

Blood 2017 02 27;129(6):680-692. Epub 2016 Dec 27.

Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy; and.

Philadelphia-negative classical myeloproliferative neoplasms (MPNs) include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). The 2016 revision of the includes new criteria for the diagnosis of these disorders. Somatic mutations in the 3 driver genes, that is, , , and , represent major diagnostic criteria in combination with hematologic and morphological abnormalities. Read More