LNK mutations and myeloproliferative disorders

American Journal of Hematology

Volumn 91, Issue 2, 2016, Pages 248-251

  Mcmullin, Mary Frances ^a   Cario, Holger ^b  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^b UNIVERSITY HOSPITAL ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

JAK2 PROTEIN, HUMAN; JANUS KINASE 2; LNK PROTEIN, HUMAN; PROTEIN;

ANIMAL; CELL PROLIFERATION; EXON; GENETICS; HEMATOPOIETIC STEM CELL; HUMAN; METABOLISM; MUTATION; MYELOPROLIFERATIVE DISORDER; PATHOLOGY; POLYCYTHEMIA; SIGNAL TRANSDUCTION;

ANIMALS; CELL PROLIFERATION; EXONS; HEMATOPOIETIC STEM CELLS; HUMANS; JANUS KINASE 2; MUTATION; MYELOPROLIFERATIVE DISORDERS; POLYCYTHEMIA; PROTEINS; SIGNAL TRANSDUCTION;

EID: 84956556396     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.24259     Document Type: Review

References (25)

1. Pawson T, Scott JD. Signaling through scaffold, anchoring, and adaptor proteins. Science 1997;278:2075-2080.
2. Rudd CE. Lnk adaptor: Novel negative regulator of B cell lymphopoiesis. Sci STKE 2001;85:pe1.
3. Huang X, Li Y, Tanaka K, et al. Cloning and characterization of Lnk, a signal transduction protein that links T-cell receptor activation signal to phospholipase Cγ1, Grb2, ad phosphatidylinositol 3-kinase. Proc Natl Acad Sci USA 1995;92:11618-11622.
4. Takaki S, Watts JD, Forbush KA, et al. Characterisation of Lnk. J Biol Chem 1997;272:14562-14570.
5. Takaki S, Sauer K, Iritani BM, et al. Control of B cell production of the adaptor protein Lnk: Definition of a conserved family of signal-modulating proteins. Immunity 2000;13:599-609.
6. Takaki S, Morita H, Tezuka Y, Takatsu K. Enhanced hematopoiesis by hematopoietic progenitor cells lacking intracellular adaptor protein Lnk. J Exp Med 2002;195:151-160.
7. Nobuhisa I, Takizawa M, Takaki S, et al. Regulation of hematopoietic development in the aorta-gonad-mesonephros region mediated by Lnk adaptor protein. Mol Cell Biol 2003;23:8486-8494.
8. Velazquez L, Cheng AM, Fleming HE, et al. Cytokine signalling and hematopoietic homeostasis are disrupted in Lnk-deficient mice. J Exp Med 2002;195:1699-1611.
9. Tong W, Zhang J, Lodish HF. Lnk inhibits erythropoiesis nd Epo-dependent JAK2 activation and downstream signalling pathways. Blood 2005;105:4604-4611.
10. Tong W, Lodish HF. Lnk inhibits Tpo-mpl signalling and Tpo-mediated megakaryocytopoiesis. J Exp Med 2004;200:569-580.
11. Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a mnovel somatic activiating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006;e270.
12. Pardanani AD, Levine RL, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: A study of 1182 patients. Blood 2006;108:3472-3462.
13. Gery S, Gueller S, Chumakova K, et al. Adaptor protein Lnk negatively regulates the mutant MPL, MPLW515L associated with myeloproliferative disorders. Blood 2007;110:3360-3364.
14. Bersenev A, Wu C, Balcerak J, Tong W. Lnk controls se hematopoietic stem cell self-renewal and quiescence through direct interactions with JAK2. J Clin Invest 2008;118:2832-2844.
15. Gery S, Cao Q, Gueller S, et al. Lnk inhibits myeloproliferative disorder-associated JAK2 mutant, JAK2V617F. J Leukoc Biol 2009;85:957-965.
16. Bersenev A, Wu C. Balcerak J, et al. Lnk constrians myeloproliferative diseases in mice. J Clin Invest 2010;120:2058-2069.
17. Oh ST, Simonds EF, Jones C, et al. Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. Blood 2010;116:988-992.
18. OH ST, Zahn JM, Jones CD, et al. Identification of novel LNK mutations in patients with chronic myeloproliferative neoplasm and related disorders. Blood 2010;116:abst 315.
19. Pardanani A, Lasho T, Finke C, et al. LNK mutation studies in blast-phase myeloproliferative neoplasms, and in chronic-phase disease with TET2, IDH, JAK2 or MPL mutations. Leukemia 2010;24:1713-1718.
20. Lasho T, Tefferi A, Vannucchi AM, et al. LNK mutation studies in chronic-and blast-phase myeloproliferative neoplasms and JAK2 mutation-negative erythrocytosis. Blood 2010;116:abst 4105.
21. Hurado C, Erquiaga I, Aranaz P, et al. LNK can also be mutated outside PH and SH2 domains in myeloproliferative neoplasms with and without V617FJAK2 mutation. Leukemia Res 2011;35:1537-1539.
22. Ha J-S, Jeon D-S. Possible new LNK mutations in myeloproliferative neoplasms. Am J Hemat 2011;86:866-868.
23. Lasho T, Pardanani A, Tefferi A. LNK mutations in JAK2 mutation-negative erythrocytosis. N Engl J Med 2010;363:1189-1899.
24. McMullin MF, Wu C, Percy MJ, Tong W. A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis. Am J Hemat 2011;86:962-964.
25. Spolverini A, Pieri L, Guglielmelli P, et al. Infrequent occurrence of mutations in the PH domain of LNK in patients with JAK2 mutation-negative 'idiopathic' erythrocytosis. Haematologica 2013;98:e101-e102.