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JAK2 Protein Variant

MedGen UID:
822217
•Concept ID:
C3829469
•
Cell or Molecular Dysfunction
Synonyms: JAK-2 Protein Variant; Janus Kinase 2 Protein Variant; Tyrosine-Protein Kinase JAK2 Protein Variant

Definition

A variation in the amino acid sequence for the tyrosine-protein kinase JAK2 protein. [from NCI]

Professional guidelines

PubMed

CRISPR Dependency Screens in Primary Hematopoietic Stem Cells Identify KDM3B as a Genotype-specific Vulnerability in IDH2- and TET2-mutant Cells.
Waarts MR, Mowla S, Boileau M, Martinez Benitez AR, Sango J, Bagish M, Fernández-Maestre I, Shan Y, Eisman SE, Park YC, Wereski M, Csete I, O'Connor K, Romero-Vega AC, Miles LA, Xiao W, Wu X, Koche RP, Armstrong SA, Shih AH, Papapetrou EP, Butler JM, Cai SF, Bowman RL, Levine RL
Cancer Discov 2024 Oct 4;14(10):1860-1878. doi: 10.1158/2159-8290.CD-23-1092. PMID: 38819218Free PMC Article
Mapping genotypes to chromatin accessibility profiles in single cells.
Izzo F, Myers RM, Ganesan S, Mekerishvili L, Kottapalli S, Prieto T, Eton EO, Botella T, Dunbar AJ, Bowman RL, Sotelo J, Potenski C, Mimitou EP, Stahl M, El Ghaity-Beckley S, Arandela J, Raviram R, Choi DC, Hoffman R, Chaligné R, Abdel-Wahab O, Smibert P, Ghobrial IM, Scandura JM, Marcellino B, Levine RL, Landau DA
Nature 2024 May;629(8014):1149-1157. Epub 2024 May 8 doi: 10.1038/s41586-024-07388-y. PMID: 38720070Free PMC Article
World Health Organization-defined eosinophilic disorders: 2019 update on diagnosis, risk stratification, and management.
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623

Recent clinical studies

Etiology

Clinical impact of mutated JAK2 allele burden reduction in polycythemia vera and essential thrombocythemia.
Guglielmelli P, Mora B, Gesullo F, Mannelli F, Loscocco GG, Signori L, Pessina C, Colugnat I, Aquila R, Balliu M, Maccari C, Romagnoli S, Paoli C, Nacca E, Fagiolo L, Maffioli M, Barbui T, Passamonti F, Vannucchi AM
Am J Hematol 2024 Aug;99(8):1550-1559. Epub 2024 Jun 6 doi: 10.1002/ajh.27400. PMID: 38841874
World Health Organization-defined eosinophilic disorders: 2019 update on diagnosis, risk stratification, and management.
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
Therapeutic Ablation of Gain-of-Function Mutant p53 in Colorectal Cancer Inhibits Stat3-Mediated Tumor Growth and Invasion.
Schulz-Heddergott R, Stark N, Edmunds SJ, Li J, Conradi LC, Bohnenberger H, Ceteci F, Greten FR, Dobbelstein M, Moll UM
Cancer Cell 2018 Aug 13;34(2):298-314.e7. doi: 10.1016/j.ccell.2018.07.004. PMID: 30107178Free PMC Article
Philadelphia chromosome-like acute lymphoblastic leukemia.
Tasian SK, Loh ML, Hunger SP
Blood 2017 Nov 9;130(19):2064-2072. Epub 2017 Oct 2 doi: 10.1182/blood-2017-06-743252. PMID: 28972016Free PMC Article
Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group.
Reshmi SC, Harvey RC, Roberts KG, Stonerock E, Smith A, Jenkins H, Chen IM, Valentine M, Liu Y, Li Y, Shao Y, Easton J, Payne-Turner D, Gu Z, Tran TH, Nguyen JV, Devidas M, Dai Y, Heerema NA, Carroll AJ 3rd, Raetz EA, Borowitz MJ, Wood BL, Angiolillo AL, Burke MJ, Salzer WL, Zweidler-McKay PA, Rabin KR, Carroll WL, Zhang J, Loh ML, Mullighan CG, Willman CL, Gastier-Foster JM, Hunger SP
Blood 2017 Jun 22;129(25):3352-3361. Epub 2017 Apr 13 doi: 10.1182/blood-2016-12-758979. PMID: 28408464Free PMC Article

Diagnosis

RAB27B controls palmitoylation-dependent NRAS trafficking and signaling in myeloid leukemia.
Ren JG, Xing B, Lv K, O'Keefe RA, Wu M, Wang R, Bauer KM, Ghazaryan A, Burslem GM, Zhang J, O'Connell RM, Pillai V, Hexner EO, Philips MR, Tong W
J Clin Invest 2023 Jun 15;133(12) doi: 10.1172/JCI165510. PMID: 37317963Free PMC Article
JAK2 V617F allele burden in polycythemia vera: burden of proof.
Moliterno AR, Kaizer H, Reeves BN
Blood 2023 Apr 20;141(16):1934-1942. doi: 10.1182/blood.2022017697. PMID: 36745865Free PMC Article
Updates on eosinophilic disorders.
Tzankov A, Reichard KK, Hasserjian RP, Arber DA, Orazi A, Wang SA
Virchows Arch 2023 Jan;482(1):85-97. Epub 2022 Sep 7 doi: 10.1007/s00428-022-03402-8. PMID: 36068374
BCR-ABL1-like B-Acute Lymphoblastic Leukemia/Lymphoma: A Comprehensive Review.
Jain S, Abraham A
Arch Pathol Lab Med 2020 Feb;144(2):150-155. Epub 2019 Oct 23 doi: 10.5858/arpa.2019-0194-RA. PMID: 31644323
World Health Organization-defined eosinophilic disorders: 2019 update on diagnosis, risk stratification, and management.
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623

Therapy

Clinical impact of mutated JAK2 allele burden reduction in polycythemia vera and essential thrombocythemia.
Guglielmelli P, Mora B, Gesullo F, Mannelli F, Loscocco GG, Signori L, Pessina C, Colugnat I, Aquila R, Balliu M, Maccari C, Romagnoli S, Paoli C, Nacca E, Fagiolo L, Maffioli M, Barbui T, Passamonti F, Vannucchi AM
Am J Hematol 2024 Aug;99(8):1550-1559. Epub 2024 Jun 6 doi: 10.1002/ajh.27400. PMID: 38841874
World Health Organization-defined eosinophilic disorders: 2019 update on diagnosis, risk stratification, and management.
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group.
Reshmi SC, Harvey RC, Roberts KG, Stonerock E, Smith A, Jenkins H, Chen IM, Valentine M, Liu Y, Li Y, Shao Y, Easton J, Payne-Turner D, Gu Z, Tran TH, Nguyen JV, Devidas M, Dai Y, Heerema NA, Carroll AJ 3rd, Raetz EA, Borowitz MJ, Wood BL, Angiolillo AL, Burke MJ, Salzer WL, Zweidler-McKay PA, Rabin KR, Carroll WL, Zhang J, Loh ML, Mullighan CG, Willman CL, Gastier-Foster JM, Hunger SP
Blood 2017 Jun 22;129(25):3352-3361. Epub 2017 Apr 13 doi: 10.1182/blood-2016-12-758979. PMID: 28408464Free PMC Article
Myeloid neoplasms with eosinophilia.
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.
Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M, Cuker A, Wernig G, Moore S, Galinsky I, DeAngelo DJ, Clark JJ, Lee SJ, Golub TR, Wadleigh M, Gilliland DG, Levine RL
PLoS Med 2006 Jul;3(7):e270. doi: 10.1371/journal.pmed.0030270. PMID: 16834459Free PMC Article

Prognosis

Clinical impact of mutated JAK2 allele burden reduction in polycythemia vera and essential thrombocythemia.
Guglielmelli P, Mora B, Gesullo F, Mannelli F, Loscocco GG, Signori L, Pessina C, Colugnat I, Aquila R, Balliu M, Maccari C, Romagnoli S, Paoli C, Nacca E, Fagiolo L, Maffioli M, Barbui T, Passamonti F, Vannucchi AM
Am J Hematol 2024 Aug;99(8):1550-1559. Epub 2024 Jun 6 doi: 10.1002/ajh.27400. PMID: 38841874
RAB27B controls palmitoylation-dependent NRAS trafficking and signaling in myeloid leukemia.
Ren JG, Xing B, Lv K, O'Keefe RA, Wu M, Wang R, Bauer KM, Ghazaryan A, Burslem GM, Zhang J, O'Connell RM, Pillai V, Hexner EO, Philips MR, Tong W
J Clin Invest 2023 Jun 15;133(12) doi: 10.1172/JCI165510. PMID: 37317963Free PMC Article
JAK2 V617F allele burden in polycythemia vera: burden of proof.
Moliterno AR, Kaizer H, Reeves BN
Blood 2023 Apr 20;141(16):1934-1942. doi: 10.1182/blood.2022017697. PMID: 36745865Free PMC Article
World Health Organization-defined eosinophilic disorders: 2019 update on diagnosis, risk stratification, and management.
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
Myeloid neoplasms with eosinophilia.
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030

Clinical prediction guides

Clinical impact of mutated JAK2 allele burden reduction in polycythemia vera and essential thrombocythemia.
Guglielmelli P, Mora B, Gesullo F, Mannelli F, Loscocco GG, Signori L, Pessina C, Colugnat I, Aquila R, Balliu M, Maccari C, Romagnoli S, Paoli C, Nacca E, Fagiolo L, Maffioli M, Barbui T, Passamonti F, Vannucchi AM
Am J Hematol 2024 Aug;99(8):1550-1559. Epub 2024 Jun 6 doi: 10.1002/ajh.27400. PMID: 38841874
Determinants of mosaic chromosomal alteration fitness.
Pershad Y, Mack T, Poisner H, Jakubek YA, Stilp AM, Mitchell BD, Lewis JP, Boerwinkle E, Loos RJF, Chami N, Wang Z, Barnes K, Pankratz N, Fornage M, Redline S, Psaty BM, Bis JC, Shojaie A, Silverman EK, Cho MH, Yun JH, DeMeo D, Levy D, Johnson AD, Mathias RA, Taub MA, Arnett D, North KE, Raffield LM, Carson AP, Doyle MF, Rich SS, Rotter JI, Guo X, Cox NJ, Roden DM, Franceschini N, Desai P, Reiner AP, Auer PL, Scheet PA, Jaiswal S, Weinstock JS, Bick AG
Nat Commun 2024 May 7;15(1):3800. doi: 10.1038/s41467-024-48190-8. PMID: 38714703Free PMC Article
Associations of A20, CYLD, Cezanne and JAK2 Genes and Immunophenotype with Psoriasis Susceptibility.
Giang NH, Lien NTK, Trang DT, Huong PT, Hoang NH, Xuan NT
Medicina (Kaunas) 2023 Oct 3;59(10) doi: 10.3390/medicina59101766. PMID: 37893484Free PMC Article
Myeloid neoplasms with eosinophilia.
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Off-Target Effects of BCR-ABL and JAK2 Inhibitors.
Green MR, Newton MD, Fancher KM
Am J Clin Oncol 2016 Feb;39(1):76-84. doi: 10.1097/COC.0000000000000023. PMID: 24351780

Recent systematic reviews

Association of JAK2V617F allele burden and clinical correlates in polycythemia vera: a systematic review and meta-analysis.
Chen CC, Chen JL, Lin AJ, Yu LH, Hou HA
Ann Hematol 2024 Jun;103(6):1947-1965. Epub 2024 Apr 23 doi: 10.1007/s00277-024-05754-4. PMID: 38652240Free PMC Article
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D
J Exp Med 2024 Jun 3;221(6) Epub 2024 Apr 2 doi: 10.1084/jem.20232387. PMID: 38563820Free PMC Article
PCM1-JAK2 Fusion Tyrosine Kinase Gene-Related Neoplasia: A Systematic Review of the Clinical Literature.
Kaplan HG, Jin R, Bifulco CB, Scanlan JM, Corwin DR
Oncologist 2022 Aug 5;27(8):e661-e670. doi: 10.1093/oncolo/oyac072. PMID: 35472244Free PMC Article
Systematization of analytical studies of polycythemia vera, essential thrombocythemia and primary myelofibrosis, and a meta-analysis of the frequency of JAK2, CALR and MPL mutations: 2000-2018.
Mejía-Ochoa M, Acevedo Toro PA, Cardona-Arias JA
BMC Cancer 2019 Jun 17;19(1):590. doi: 10.1186/s12885-019-5764-4. PMID: 31208359Free PMC Article

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