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JAK2 Gene Mutation

MedGen UID:
415974
•Concept ID:
C2827348
•
Cell or Molecular Dysfunction
Synonyms: JAK-2 Gene Mutation; JAK2 Gene Variant; JAK2 Mutation; Janus Kinase 2 (A Protein Tyrosine Kinase) Gene Variant; Janus Kinase 2 Gene Mutation; Janus Kinase 2 Gene Variant; JTK10 Gene Mutation

Definition

Mutation of the Janus 2 kinase gene at chromosome 9. It is seen in most patients with polycythemia vera and less frequently in other myeloproliferative neoplasms. [from NCI]

Professional guidelines

PubMed

Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.
Stockklausner C, Duffert CM, Cario H, Knöfler R, Streif W, Kulozik AE; THROMKID-Plus Studiengruppe der Gesellschaft für Thrombose- und Hämostaseforschung (GTH) and of Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH)
Ann Hematol 2021 Jul;100(7):1647-1665. Epub 2021 Mar 12 doi: 10.1007/s00277-021-04485-0. PMID: 33712866Free PMC Article
Myelofibrosis biology and contemporary management.
Gangat N, Tefferi A
Br J Haematol 2020 Oct;191(2):152-170. Epub 2020 Mar 20 doi: 10.1111/bjh.16576. PMID: 32196650
Resolving TYK2 locus genotype-to-phenotype differences in autoimmunity.
Dendrou CA, Cortes A, Shipman L, Evans HG, Attfield KE, Jostins L, Barber T, Kaur G, Kuttikkatte SB, Leach OA, Desel C, Faergeman SL, Cheeseman J, Neville MJ, Sawcer S, Compston A, Johnson AR, Everett C, Bell JI, Karpe F, Ultsch M, Eigenbrot C, McVean G, Fugger L
Sci Transl Med 2016 Nov 2;8(363):363ra149. doi: 10.1126/scitranslmed.aag1974. PMID: 27807284Free PMC Article

Recent clinical studies

Etiology

A case of ischemic stroke with hemorrhagic transformation associated with essential thrombocythemia and JAK-2 V617F mutation.
Yan R, Mi D, Qiu X, Li Z
BMC Neurol 2022 Nov 17;22(1):437. doi: 10.1186/s12883-022-02964-z. PMID: 36397023Free PMC Article
Study of CALR, MPL, and c-kit Gene Mutations in Thai Patients with JAK2 V617F Negative Myeloproliferative Neoplasms.
Wiriyaukaradecha K, Nimsanor S, Tantirukdham N, Tongsom J, Bunyoo C, Soonklang K, Sritana N, Auewarakul C
Asian Pac J Cancer Prev 2022 May 1;23(5):1671-1678. doi: 10.31557/APJCP.2022.23.5.1671. PMID: 35633552Free PMC Article
Venous Thrombotic Recurrence After Cerebral Venous Thrombosis: A Long-Term Follow-Up Study.
Palazzo P, Agius P, Ingrand P, Ciron J, Lamy M, Berthomet A, Cantagrel P, Neau JP
Stroke 2017 Feb;48(2):321-326. Epub 2016 Dec 15 doi: 10.1161/STROKEAHA.116.015294. PMID: 27980127
Evaluation of clinical and laboratory findings with JAK2 V617F mutation as an independent variable in essential thrombocytosis.
Cetin G, Ozkan T, Turgut S, Ali Cikrikcioglu M, Cem Ar M, Ayer M, Unlu A, Celik SR, Sekin Y, Karatoprak C
Mol Biol Rep 2014 Oct;41(10):6737-42. Epub 2014 Jul 11 doi: 10.1007/s11033-014-3559-x. PMID: 25012914
Use of the activating gene mutation of the tyrosine kinase (VAL617Phe) JAK2 as a minimal residual disease marker in patients with myelofibrosis and myeloid metaplasia after allogeneic stem cell transplantation.
Steckel NK, Koldehoff M, Ditschkowski M, Beelen DW, Elmaagacli AH
Transplantation 2007 Jun 15;83(11):1518-20. doi: 10.1097/01.tp.0000263393.65764.f4. PMID: 17565328

Diagnosis

A case of pachydermaperiostosis with myelofibrosis and treatment with ruxolitinib.
Deniz R, Ezircan-Alay M
Mod Rheumatol Case Rep 2023 Jan 3;7(1):324-326. doi: 10.1093/mrcr/rxac076. PMID: 36208298
A case of ischemic stroke with hemorrhagic transformation associated with essential thrombocythemia and JAK-2 V617F mutation.
Yan R, Mi D, Qiu X, Li Z
BMC Neurol 2022 Nov 17;22(1):437. doi: 10.1186/s12883-022-02964-z. PMID: 36397023Free PMC Article
Venous Thrombotic Recurrence After Cerebral Venous Thrombosis: A Long-Term Follow-Up Study.
Palazzo P, Agius P, Ingrand P, Ciron J, Lamy M, Berthomet A, Cantagrel P, Neau JP
Stroke 2017 Feb;48(2):321-326. Epub 2016 Dec 15 doi: 10.1161/STROKEAHA.116.015294. PMID: 27980127
Evaluation of clinical and laboratory findings with JAK2 V617F mutation as an independent variable in essential thrombocytosis.
Cetin G, Ozkan T, Turgut S, Ali Cikrikcioglu M, Cem Ar M, Ayer M, Unlu A, Celik SR, Sekin Y, Karatoprak C
Mol Biol Rep 2014 Oct;41(10):6737-42. Epub 2014 Jul 11 doi: 10.1007/s11033-014-3559-x. PMID: 25012914
Splanchnic vein thrombosis following renal transplantation: a case report.
Tatar E, Uslu A, Aykas A, Tasli F, Oztekin O, Cagliyan GA
BMC Nephrol 2013 Jul 22;14:161. doi: 10.1186/1471-2369-14-161. PMID: 23876158Free PMC Article

Therapy

Splanchnic vein thrombosis following renal transplantation: a case report.
Tatar E, Uslu A, Aykas A, Tasli F, Oztekin O, Cagliyan GA
BMC Nephrol 2013 Jul 22;14:161. doi: 10.1186/1471-2369-14-161. PMID: 23876158Free PMC Article

Prognosis

Validation of previous prognostic models for thrombosis and exploration of modified models in patients with essential thrombocythemia.
Hashimoto Y, Nakamae H, Tanaka T, Omura H, Horiuchi M, Yoshimura T, Takakuwa T, Mugitani A, Hirose A, Nakamae M, Koh H, Hino M
Eur J Haematol 2018 Oct;101(4):508-513. Epub 2018 Aug 31 doi: 10.1111/ejh.13136. PMID: 29971894
Venous Thrombotic Recurrence After Cerebral Venous Thrombosis: A Long-Term Follow-Up Study.
Palazzo P, Agius P, Ingrand P, Ciron J, Lamy M, Berthomet A, Cantagrel P, Neau JP
Stroke 2017 Feb;48(2):321-326. Epub 2016 Dec 15 doi: 10.1161/STROKEAHA.116.015294. PMID: 27980127
Use of the activating gene mutation of the tyrosine kinase (VAL617Phe) JAK2 as a minimal residual disease marker in patients with myelofibrosis and myeloid metaplasia after allogeneic stem cell transplantation.
Steckel NK, Koldehoff M, Ditschkowski M, Beelen DW, Elmaagacli AH
Transplantation 2007 Jun 15;83(11):1518-20. doi: 10.1097/01.tp.0000263393.65764.f4. PMID: 17565328

Clinical prediction guides

A case of pachydermaperiostosis with myelofibrosis and treatment with ruxolitinib.
Deniz R, Ezircan-Alay M
Mod Rheumatol Case Rep 2023 Jan 3;7(1):324-326. doi: 10.1093/mrcr/rxac076. PMID: 36208298
Study of CALR, MPL, and c-kit Gene Mutations in Thai Patients with JAK2 V617F Negative Myeloproliferative Neoplasms.
Wiriyaukaradecha K, Nimsanor S, Tantirukdham N, Tongsom J, Bunyoo C, Soonklang K, Sritana N, Auewarakul C
Asian Pac J Cancer Prev 2022 May 1;23(5):1671-1678. doi: 10.31557/APJCP.2022.23.5.1671. PMID: 35633552Free PMC Article
Validation of previous prognostic models for thrombosis and exploration of modified models in patients with essential thrombocythemia.
Hashimoto Y, Nakamae H, Tanaka T, Omura H, Horiuchi M, Yoshimura T, Takakuwa T, Mugitani A, Hirose A, Nakamae M, Koh H, Hino M
Eur J Haematol 2018 Oct;101(4):508-513. Epub 2018 Aug 31 doi: 10.1111/ejh.13136. PMID: 29971894
Evaluation of clinical and laboratory findings with JAK2 V617F mutation as an independent variable in essential thrombocytosis.
Cetin G, Ozkan T, Turgut S, Ali Cikrikcioglu M, Cem Ar M, Ayer M, Unlu A, Celik SR, Sekin Y, Karatoprak C
Mol Biol Rep 2014 Oct;41(10):6737-42. Epub 2014 Jul 11 doi: 10.1007/s11033-014-3559-x. PMID: 25012914

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