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[Clinical application of gene mutation information in myeloproliferative neoplasms].
Rinsho Ketsueki 2019; 60(6):610-618RK

Abstract

Myeloproliferative neoplasms (MPNs) are chronic hematopoietic stem cell disorders, including polycythemia vera, essential thrombocytosis, and primary myelofibrosis, characterized by constitutive activation of JAK/STAT signaling. JAK2, MPL, and CALR mutations are considered "driver mutations" and are directly implicated in the disease pathogenesis by activation of JAK2/STAT signaling. In addition to these driver mutations, several other mutations in epigenome regulatory and RNA splicing molecules have been found. This genetic information, especially regarding driver mutations, is essential for the diagnosis of MPN. Furthermore, assessment of non-driver mutations is also becoming increasingly important for disease risk assessment and treatment strategy definition.

Authors+Show Affiliations

Department of Hematology, Clinical Immunology and Infectious Diseases, Ehime University Graduate School of Medicine.

Pub Type(s)

English Abstract
Journal Article

Language

jpn

PubMed ID

31281152

Citation

Takenaka, Katsuto. "[Clinical Application of Gene Mutation Information in Myeloproliferative Neoplasms]." [Rinsho Ketsueki] the Japanese Journal of Clinical Hematology, vol. 60, no. 6, 2019, pp. 610-618.
Takenaka K. [Clinical application of gene mutation information in myeloproliferative neoplasms]. Rinsho Ketsueki. 2019;60(6):610-618.
Takenaka, K. (2019). [Clinical application of gene mutation information in myeloproliferative neoplasms]. [Rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 60(6), pp. 610-618. doi:10.11406/rinketsu.60.610.
Takenaka K. [Clinical Application of Gene Mutation Information in Myeloproliferative Neoplasms]. Rinsho Ketsueki. 2019;60(6):610-618. PubMed PMID: 31281152.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Clinical application of gene mutation information in myeloproliferative neoplasms]. A1 - Takenaka,Katsuto, PY - 2019/7/9/entrez KW - Gene mutations KW - Genetic risk KW - Myeloproliferative neoplasms KW - Ruxolitinib SP - 610 EP - 618 JF - [Rinsho ketsueki] The Japanese journal of clinical hematology JO - Rinsho Ketsueki VL - 60 IS - 6 N2 - Myeloproliferative neoplasms (MPNs) are chronic hematopoietic stem cell disorders, including polycythemia vera, essential thrombocytosis, and primary myelofibrosis, characterized by constitutive activation of JAK/STAT signaling. JAK2, MPL, and CALR mutations are considered "driver mutations" and are directly implicated in the disease pathogenesis by activation of JAK2/STAT signaling. In addition to these driver mutations, several other mutations in epigenome regulatory and RNA splicing molecules have been found. This genetic information, especially regarding driver mutations, is essential for the diagnosis of MPN. Furthermore, assessment of non-driver mutations is also becoming increasingly important for disease risk assessment and treatment strategy definition. SN - 0485-1439 UR - https://www.unboundmedicine.com/medline/citation/31281152/[Clinical_application_of_gene_mutation_information_in_myeloproliferative_neoplasms] L2 - https://dx.doi.org/10.11406/rinketsu.60.610 DB - PRIME DP - Unbound Medicine ER -
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