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癌症表中的 Jak 和细胞因子受体突变体

该表列举了发现于各种癌症中的 Jak 和细胞因子受体突变体,以及相应的发表资料。

Jak 突变体

Jak 突变体 细胞因子受体 疾病 参考文献
Jak2 V617F EpoR, TpoR (MPL), G-CSFR Myeloproliferative neoplasms (MNPs), PV, ET, PMF (1, 2, 3, 4, 5)
Jak2 K539L, exon 12 mutants EpoR MNP: PV (6)
Jak2 T875N Undetermined AML (AMKL) (7)
Jak3 A572V Undetermined AML (AMKL) (cell lines) (8)
Jak1 V658F, Jak1 A634D, R879H, R724S IL2R, IL9R, other undetermined T-ALL (9, 10)
Jak1 R683G/S Jak2 DIREED TLSPR Pediatric and Down syndrome ALL (11, 12, 13, 14, 15)
Jak2 V617I, Jak2 R564Q, Jak2 S755R/ R938Q TpoR (MPL) Hereditary thrombocytosis (16, 17, 18)

受体突变体

受体突变体 细胞因子受体 疾病 参考文献
TpoR W515L/K/A Jak2 MPNs: ET, PMF (19, 20, 21)
TpoR S505N     (22)
TpoR S487A     (23)
TLSPR F232S / TLSPR translocations Jak2 R683 mutants Pediatric and Down syndrome ALL (13, 24, 25, 26)

我们衷心感谢来自比利时布鲁塞尔路德维格癌症研究所的 Stefan N. Constantinescu 教授提供了该表格。

参考文献

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  2. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365(9464), 1054–61.
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  4. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel S, Mercher T, D'Andrea A, Fröhling S, Döhner K, Marynen P, Vandenberghe P, Mesa RA, Tefferi A, Griffin JD, Eck MJ, Sellers WR, Meyerson M, Golub TR, Lee SJ, Gilliland DG (2005) Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 7(4), 387–97.
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  9. Flex E, Petrangeli V, Stella L, Chiaretti S, Hornakova T, Knoops L, Ariola C, Fodale V, Clappier E, Paoloni F, Martinelli S, Fragale A, Sanchez M, Tavolaro S, Messina M, Cazzaniga G, Camera A, Pizzolo G, Tornesello A, Vignetti M, Battistini A, Cavé H, Gelb BD, Renauld JC, Biondi A, Constantinescu SN, Foà R, Tartaglia M (2008) Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. J. Exp. Med. 205(4), 751–8.
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  13. Mullighan CG, Collins-Underwood JR, Phillips LA, Loudin MG, Liu W, Zhang J, Ma J, Coustan-Smith E, Harvey RC, Willman CL, Mikhail FM, Meyer J, Carroll AJ, Williams RT, Cheng J, Heerema NA, Basso G, Pession A, Pui CH, Raimondi SC, Hunger SP, Downing JR, Carroll WL, Rabin KR (2009) Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia. Nat. Genet. 41(11), 1243–6.
  14. Bercovich D, Ganmore I, Scott LM, Wainreb G, Birger Y, Elimelech A, Shochat C, Cazzaniga G, Biondi A, Basso G, Cario G, Schrappe M, Stanulla M, Strehl S, Haas OA, Mann G, Binder V, Borkhardt A, Kempski H, Trka J, Bielorei B, Avigad S, Stark B, Smith O, Dastugue N, Bourquin JP, Tal NB, Green AR, Izraeli S (2008) Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome. Lancet 372(9648), 1484–92.
  15. Kearney L, Gonzalez De Castro D, Yeung J, Procter J, Horsley SW, Eguchi-Ishimae M, Bateman CM, Anderson K, Chaplin T, Young BD, Harrison CJ, Kempski H, So CW, Ford AM, Greaves M (2009) Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia. Blood 113(3), 646–8.
  16. Mead AJ, Chowdhury O, Pecquet C, Dusa A, Woll P, Atkinson D, Burns A, Score J, Rugless M, Clifford R, Moule S, Bienz N, Vyas P, Cross N, Gale RE, Henderson S, Constantinescu SN, Schuh A, Jacobsen SE (2013) Impact of isolated germline JAK2V617I mutation on human hematopoiesis. Blood 121(20), 4156–65.
  17. Etheridge SL, Cosgrove ME, Sangkhae V, Corbo LM, Roh ME, Seeliger MA, Chan EL, Hitchcock IS (2014) A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis. Blood 123(7), 1059–68.
  18. Marty C, Saint-Martin C, Pecquet C, Grosjean S, Saliba J, Mouton C, Leroy E, Harutyunyan AS, Abgrall JF, Favier R, Toussaint A, Solary E, Kralovics R, Constantinescu SN, Najman A, Vainchenker W, Plo I, Bellanné-Chantelot C (2014) Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors. Blood 123(9), 1372–83.
  19. 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 (2006) MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 3(7), e270.
  20. Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M, Steensma DP, Elliott MA, Wolanskyj AP, Hogan WJ, McClure RF, Litzow MR, Gilliland DG, Tefferi A (2006) MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 108(10), 3472–6.
  21. Pecquet C, Staerk J, Chaligné R, Goss V, Lee KA, Zhang X, Rush J, Van Hees J, Poirel HA, Scheiff JM, Vainchenker W, Giraudier S, Polakiewicz RD, Constantinescu SN (2010) Induction of myeloproliferative disorder and myelofibrosis by thrombopoietin receptor W515 mutants is mediated by cytosolic tyrosine 112 of the receptor. Blood 115(5), 1037–48.
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  23. Malinge S, Ragu C, Della-Valle V, Pisani D, Constantinescu SN, Perez C, Villeval JL, Reinhardt D, Landman-Parker J, Michaux L, Dastugue N, Baruchel A, Vainchenker W, Bourquin JP, Penard-Lacronique V, Bernard OA (2008) Activating mutations in human acute megakaryoblastic leukemia. Blood 112(10), 4220–6.
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  25. Chapiro E, Russell L, Lainey E, Kaltenbach S, Ragu C, Della-Valle V, Hanssens K, Macintyre EA, Radford-Weiss I, Delabesse E, Cavé H, Mercher T, Harrison CJ, Nguyen-Khac F, Dubreuil P, Bernard OA (2010) Activating mutation in the TSLPR gene in B-cell precursor lymphoblastic leukemia. Leukemia 24(3), 642–5.
  26. Hertzberg L, Vendramini E, Ganmore I, Cazzaniga G, Schmitz M, Chalker J, Shiloh R, Iacobucci I, Shochat C, Zeligson S, Cario G, Stanulla M, Strehl S, Russell LJ, Harrison CJ, Bornhauser B, Yoda A, Rechavi G, Bercovich D, Borkhardt A, Kempski H, te Kronnie G, Bourquin JP, Domany E, Izraeli S (2010) Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group. Blood 115(5), 1006–17.

创建于 2014 年 9 月