Journal Article

The JAK2 V617F mutation in de novo acute myelogenous leukemias

Lee, J Y, Park, W S, Lee, J W, Rhim, H S, Nam, S W, Lee, S H, Soung, Y H, Yoo, N J, Kim, S Y, Han, K J, Min, W S, Kim, Y G

2006

Overview

A missense somatic mutation in JAK2 gene ( JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders. As activation of JAK2 signaling is occurred in other malignancies as well, we have analysed 558 tissues from common human cancers, including colon, breast and lung carcinomas, and 143 acute adulthood leukemias by polymerase chain reaction – single strand conformation polymorphism analysis. We found three JAK2 mutations in the 113 acute myelogenous leukemias (AMLs) (2.7%), but none in other cancers. The mutations consisted of two V617F mutations and one K607N mutation. None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders. This is the first report on the JAK2 gene mutation in AML, and the data indicated that the JAK2 gene mutation may not only contribute to the development of chronic myeloid disorders, but also to some AMLs.

• Publisher: Nature Publishing Group UK,Nature Publishing,Nature Publishing Group
• Subject: Adult / Aged / Aged, 80 and over / Apoptosis / Biological and medical sciences / Blood cancer / Bone marrow / Breast / Breast carcinoma / Breast Neoplasms - genetics / Cancer / Carcinoma - genetics / Carcinoma, Ductal, Breast - genetics / Carcinoma, Non-Small-Cell Lung - genetics / Cell Biology / Cell physiology / Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes / Colorectal Neoplasms - genetics / Conformation / DNA Mutational Analysis / Female / Fundamental and applied biological sciences. Psychology / Hematologic and hematopoietic diseases / Hematological diseases / Human Genetics / Humans / Internal Medicine / Janus Kinase 2 / Kinases / Leukemia / Leukemia, Myeloid, Acute - genetics / Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis / Lung carcinoma / Lung Neoplasms - genetics / Male / Medical schools / Medical sciences / Medicine / Medicine & Public Health / Metaplasia / Middle Aged / Molecular and cellular biology / Mutation / Mutation, Missense / Myelofibrosis / Myeloid metaplasia / Myeloproliferative diseases / oncogenomics / Oncology / Pathogenesis / Pathology / Point mutation / Polycythemia / Polycythemia vera / Polymerase Chain Reaction / Polymorphism / Polymorphism, Single-Stranded Conformational / Protein-Tyrosine Kinases - genetics / Protein-Tyrosine Kinases - physiology / Proto-Oncogene Proteins - genetics / Proto-Oncogene Proteins - physiology / Tumors