Current views on the role of Notch signaling and the pathogenesis of human leukemia

BMC Cancer

Volumn 11, Issue , 2011, Pages

  Pancewicz, Joanna ^a   Nicot, Christophe ^a  

^a UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADAM PROTEIN; BETA CATENIN; NOTCH RECEPTOR; NOTCH1 RECEPTOR; NOTCH2 RECEPTOR; NOTCH3 RECEPTOR; NOTCH4 RECEPTOR; ONCOPROTEIN; PROTEIN CBF1; UNCLASSIFIED DRUG;

CARCINOGENESIS; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; LARGE CELL LYMPHOMA; LEUKEMIA; LYMPHATIC LEUKEMIA; MOLECULAR PATHOLOGY; MYELOID LEUKEMIA; NONHUMAN; PROTEIN CLEAVAGE; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; PROTEIN TRANSPORT; REVIEW; SIGNAL TRANSDUCTION; T CELL LEUKEMIA; ANIMAL; ANIMAL MODEL; CELL PROLIFERATION; CELL SURVIVAL; DROSOPHILA MELANOGASTER; GENETICS; LYMPHOMA; METABOLISM; MOUSE; PHYSIOLOGY;

ANIMALS; CELL PROLIFERATION; CELL SURVIVAL; DROSOPHILA MELANOGASTER; HUMANS; LEUKEMIA; LYMPHOMA; MICE; MODELS, ANIMAL; RECEPTORS, NOTCH;

EID: 82255173748     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-11-502     Document Type: Review

References (53)

1. D'Souza B, Meloty-Kapella L, Weinmaster G. Canonical and non-canonical Notch ligands. Curr Top Dev Biol 2010, 92:73-129.
2. Kovall RA, Blacklow SC. Mechanistic insights into Notch receptor signaling from structural and biochemical studies. Curr Top Dev Biol 2010, 92:31-71.
3. Kopan R, Ilagan MXG. The canonical Notch signaling pathway: unfolding the activation mechanism. Cell 2009, 137:216-233. 10.1016/j.cell.2009.03.045, 2827930, 19379690.
4. Bray S, Bernard F. Notch targets and their regulation. Curr Top Dev Biol 2010, 92:253-275.
5. Fortini ME. Notch signaling: the core pathway and its posttranslational regulation. Dev Cell 2009, 16:633-647. 10.1016/j.devcel.2009.03.010, 19460341.
6. Chastagner P, Israël A, Brou C. AIP4/Itch regulates Notch receptor degradation in the absence of ligand. PLoS One 2008, 3:e2735. 10.1371/journal.pone.0002735, 2444042, 18628966.
7. Wilkin MB, Carbery AM, Fostier M, Aslam H, Mazaleyrat SL, Higgs J, Myat A, Evans DAP, Cornell M, Baron M. Regulation of Notch endosomal sorting and signaling by Drosophila Nedd4 family proteins. Curr Biol 2004, 14:2237-2244. 10.1016/j.cub.2004.11.030, 15620650.
8. McGill MA, McGlade CJ. Mammalian numb proteins promote Notch1 receptor ubiquitination and degradation of the Notch1 intracellular domain. J Biol Chem 2003, 278:23196-23203. 10.1074/jbc.M302827200, 12682059.
9. Fortini ME, Bilder D. Endocytic regulation of Notch signaling. Curr Opin Genet Dev 2009, 19:323-328. 10.1016/j.gde.2009.04.005, 2731830, 19447603.
10. Welcker M, Clurman BE. FBW7 ubiquitin ligase: a tumour suppressor at the crossroads of cell division, growth and differentiation. Nat Rev Cancer 2008, 8:83-93. 10.1038/nrc2290, 18094723.
11. del Álamo D, Rouault H, Schweisguth F. Mechanism and significance of cis-inhibition in Notch signalling. Curr Biol 2011, 21:R40-R47. 10.1016/j.cub.2010.10.034, 21215938.
12. Calvi LM, Adams GB, Weibrecht KW, Weber JM, Olson DP, Knight MC, Martin RP, Schipani E, Divieti P, Bringhurst FR, Milner LA, Kronenberg HM, Scadden DT. Osteoblastic cells regulate the haematopoietic stem cell niche. Nature 2003, 425:841-846. 10.1038/nature02040, 14574413.
13. Maillard I, Adler SH, Pear WS. Notch and the immune system. Immunity 2003, 19:781-791. 10.1016/S1074-7613(03)00325-X, 14670296.
14. Ellisen LW, Bird J, West DC, Soreng AL, Reynolds TC, Smith SD, Sklar J. TAN-1, the human homolog of the Drosophila Notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms. Cell 1991, 66:649-661. 10.1016/0092-8674(91)90111-B, 1831692.
15. Reynolds TC, Smith SD, Sklar J. Analysis of DNA surrounding the breakpoints of chromosomal translocations involving the β T cell receptor gene in human lymphoblastic neoplasms. Cell 1987, 50:107-117. 10.1016/0092-8674(87)90667-2, 3036364.
16. Weng AP, Ferrando AA, Lee W, Morris JP, Silverman LB, Sanchez-Irizarry C, Blacklow SC, Look AT, Aster JC. Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia. Science 2004, 306:269-271. 10.1126/science.1102160, 15472075.
17. Pancewicz J, Taylor JM, Datta A, Baydoun HH, Waldmann TA, Hermine O, Nicot C. Notch signaling contributes to proliferation and tumor formation of human T-cell leukemia virus type 1-associated adult T-cell leukemia. Proc Natl Acad Sci USA 2010, 107:16619-16624. 10.1073/pnas.1010722107, 2944748, 20823234.
18. Sulis ML, Williams O, Palomero T, Tosello V, Pallikuppam S, Real PJ, Barnes K, Zuurbier L, Meijerink JP, Ferrando AA. NOTCH1 extracellular juxtamembrane expansion mutations in T-ALL. Blood 2008, 112:733-740. 10.1182/blood-2007-12-130096, 2481531, 18411416.
19. O'Neil J, Grim J, Strack P, Rao S, Tibbitts D, Winter C, Hardwick J, Welcker M, Meijerink JP, Pieters R, Draetta G, Sears R, Clurman BE, Look AT. FBW7 mutations in leukemic cells mediate NOTCH pathway activation and resistance to γ-secretase inhibitors. J Exp Med 2007, 204:1813-1824. 10.1084/jem.20070876, 2118656, 17646409.
20. Jin YH, Kim H, Ki H, Yang I, Yang N, Lee KY, Kim N, Park HS, Kim K. β-catenin modulates the level and transcriptional activity of Notch1/NICD through its direct interaction. Biochim Biophys Acta 2009, 1793:290-299. 10.1016/j.bbamcr.2008.10.002, 19000719.
21. Erbilgin Y, Sayitoglu M, Hatirnaz O, Dogru O, Akcay A, Tuysuz G, Celkan T, Aydogan G, Salcioglu Z, Timur C, Yuksel-Soycan L, Ure U, Anak S, Agaoglu L, Devecioglu O, Yildiz I, Ozbek U. Prognostic significance of NOTCH1 and FBXW7 mutations in pediatric T-ALL. Dis Markers 2010, 28:353-360.
22. Mansour MR, Sulis ML, Duke V, Foroni L, Jenkinson S, Koo K, Allen CG, Gale RE, Buck G, Richards S, Paietta E, Rowe JM, Tallman MS, Goldstone AH, Ferrando AA, Linch DC. Prognostic implications of NOTCH1 and FBXW7 mutations in adults with T-cell acute lymphoblastic leukemia treated on the MRC UKALLXII/ECOG E2993 protocol. J Clin Oncol 2009, 27:4352-4356. 10.1200/JCO.2009.22.0996, 2744275, 19635999.
23. Allenspach EJ, Maillard I, Aster JC, Pear WS. Notch signaling in cancer. Cancer Biol Ther 2002, 1:466-476. 10.4161/cbt.1.5.162, 12496471.
24. Paganin M, Ferrando A. Molecular pathogenesis and targeted therapies for NOTCH1-induced T-cell acute lymphoblastic leukemia. Blood Rev 2011, 25:83-90. 10.1016/j.blre.2010.09.004, 20965628.
25. Zweidler-McKay PA. Notch signaling in pediatric malignancies. Curr Oncol Rep 2008, 10:459-468. 10.1007/s11912-008-0071-2, 18928660.
26. Radtke F, Fasnacht N, MacDonald HR. Notch signaling in the immune system. Immunity 2010, 32:14-27. 10.1016/j.immuni.2010.01.004, 20152168.
27. Mansour MR, Duke V, Foroni L, Patel B, Allen CG, Ancliff PJ, Gale RE, Linch DC. Notch-1 mutations are secondary events in some patients with T-cell acute lymphoblastic leukemia. Clin Cancer Res 2007, 13:6964-6969. 10.1158/1078-0432.CCR-07-1474, 18056171.
28. Eguchi-Ishimae M, Eguchi M, Kempski H, Greaves M. NOTCH1 mutation can be an early, prenatal genetic event in T-ALL. Blood 2008, 111:376-378. 10.1182/blood-2007-02-074690, 17901244.
29. Rohn JL, Lauring AS, Linenberger ML, Overbaugh J. Transduction of Notch2 in feline leukemia virus-induced thymic lymphoma. J Virol 1996, 70:8071-8080. 190881, 8892932.
30. Witt CM, Hurez V, Swindle CS, Hamada Y, Klug CA. Activated Notch2 potentiates CD8 lineage maturation and promotes the selective development of B1 B cells. Mol Cell Biol 2003, 23:8637-8650. 10.1128/MCB.23.23.8637-8650.2003, 262652, 14612407.
31. Lee S, Kumano K, Nakazaki K, Sanada M, Matsumoto A, Yamamoto G, Nannya Y, Suzuki R, Ota S, Ota Y, Izutsu K, Sakata-Yanagimoto M, Hangaishi A, Yagita H, Fukayama M, Seto M, Kurokawa M, Ogawa S, Chiba S. Gain-of-function mutations and copy number increases of Notch2 in diffuse large B-cell lymphoma. Cancer Sci 2009, 100:920-926. 10.1111/j.1349-7006.2009.01130.x, 19445024.
32. Trøen G, Wlodarska I, Warsame A, Hernández Llodrà S, De Wolf-Peeters C, Delabie J. NOTCH2 mutations in marginal zone lymphoma. Haematologica 2008, 93:1107-1109. 10.3324/haematol.11635, 18508802.
33. Hubmann R, Düchler M, Schnabl S, Hilgarth M, Demirtas D, Mitteregger D, Hölbl A, Vanura K, Le T, Look T, Schwarzmeier JD, Valent P, Jäger U, Shehata M. NOTCH2 links protein kinase C δ to the expression of CD23 in chronic lymphocytic leukaemia (CLL) cells. Br J Haematol 2010, 148:868-878. 10.1111/j.1365-2141.2009.08024.x, 19995395.
34. Hubmann R, Schwarzmeier JD, Shehata M, Hilgarth M, Duechler M, Dettke M, Berger R. Notch2 is involved in the overexpression of CD23 in B-cell chronic lymphocytic leukemia. Blood 2002, 99:3742-3747. 10.1182/blood.V99.10.3742, 11986231.
35. Bellavia D, Campese AF, Checquolo S, Balestri A, Biondi A, Cazzaniga G, Lendahl U, Fehling HJ, Hayday AC, Frati L, von Boehmer H, Gulino A, Screpanti I. Combined expression of pTα and Notch3 in T cell leukemia identifies the requirement of preTCR for leukemogenesis. Proc Natl Acad Sci USA 2002, 99:3788-3793. 10.1073/pnas.062050599, 122602, 11891328.
36. Asnafi V, Beldjord K, Boulanger E, Comba B, Le Tutour P, Estienne MH, Davi F, Landman-Parker J, Quartier P, Buzyn A, Delabesse E, Valensi F, Macintyre E. Analysis of TCR, pTα, and RAG-1 in T-acute lymphoblastic leukemias improves understanding of early human T-lymphoid lineage commitment. Blood 2003, 101:2693-2703. 10.1182/blood-2002-08-2438, 12446444.
37. Checquolo S, Palermo R, Cialfi S, Ferrara G, Oliviero C, Talora C, Bellavia D, Giovenco A, Grazioli P, Frati L, Gulino A, Screpanti I. Differential subcellular localization regulates c-Cbl E3 ligase activity upon Notch3 protein in T-cell leukemia. Oncogene 2010, 29:1463-1474. 10.1038/onc.2009.446, 19966856.
38. Bellavia D, Campese AF, Alesse E, Vacca A, Felli MP, Balestri A, Stoppacciaro A, Tiveron C, Tatangelo L, Giovarelli M, Gaetano C, Ruco L, Hoffman ES, Hayday AC, Lendahl U, Frati L, Gulino A, Screpanti I. Constitutive activation of NF-κΒ and T-cell leukemia/lymphoma in Notch3 transgenic mice. EMBO J 2000, 19:3337-3348. 10.1093/emboj/19.13.3337, 313949, 10880446.
39. Masiero M, Minuzzo S, Pusceddu I, Moserle L, Persano L, Agnusdei V, Tosello V, Basso G, Amadori A, Indraccolo S. Notch3-mediated regulation of MKP-1 levels promotes survival of T acute lymphoblastic leukemia cells. Leukemia 2011, 25:588-598. 10.1038/leu.2010.323, 21263446.
40. Karanu FN, Yuefei L, Gallacher L, Sakano S, Bhatia M. Differential response of primitive human. Leukemia 2003, 17:1366-1374. 10.1038/sj.leu.2402973, 12835726.
41. Vercauteren SM, Sutherland HJ. Constitutively active Notch4 promotes early human hematopoietic progenitor cell maintenance while inhibiting differentiation and causes lymphoid abnormalities in vivo. Blood 2004, 104:2315-2322. 10.1182/blood-2004-01-0204, 15231576.
42. Wei P, Walls M, Qiu M, Ding R, Denlinger RH, Wong A, Tsaparikos K, Jani JP, Hosea N, Sands M, Randolph S, Smeal T. Evaluation of selective γ-secretase inhibitor PF-03084014 for its antitumor efficacy and gastrointestinal safety to guide optimal clinical trial design. Mol Cancer Ther 2010, 9:1618-1628. 10.1158/1535-7163.MCT-10-0034, 20530712.
43. Luistro L, He W, Smith M, Packman K, Vilenchik M, Carvajal D, Roberts J, Cai J, Berkofsky-Fessler W, Hilton H, Linn M, Flohr A, Jakob-Røtne R, Jacobsen H, Glenn K, Heimbrook D, Boylan JF. Preclinical profile of a potent γ-secretase inhibitor targeting Notch signaling with in vivo efficacy and pharmacodynamic properties. Cancer Res 2009, 69:7672-7680. 10.1158/0008-5472.CAN-09-1843, 19773430.
44. He W, Luistro L, Carvajal D, Smith M, Nevins T, Yin X, Cai J, Higgins B, Kolinsky K, Rizzo C, Packman K, Heimbrook D, Boylan JF. High tumor levels of IL6 and IL8 abrogate preclinical efficacy of the γ-secretase inhibitor, RO4929097. Mol Oncol 2011, 5:292-301. 10.1016/j.molonc.2011.01.001, 21315665.
45. Palomero T, Sulis ML, Cortina M, Real PJ, Barnes K, Ciofani M, Caparros E, Buteau J, Brown K, Perkins SL, Bhagat G, Agarwal AM, Basso G, Castillo M, Nagase S, Cordon-Cardo C, Parsons R, Zúñiga-Pflücker JC, Dominguez M, Ferrando AA. Mutational loss of PTEN induces resistance to NOTCH1 inhibition in T-cell leukemia. Nat Med 2007, 13:1203-1210. 10.1038/nm1636, 2600418, 17873882.
46. Wu Y, Cain-Hom C, Choy L, Hagenbeek TJ, de Leon GP, Chen Y, Finkle D, Venook R, Wu X, Ridgway J, Schahin-Reed D, Dow GJ, Shelton A, Stawicki S, Watts RJ, Zhang J, Choy R, Howard P, Kadyk L, Yan M, Zha J, Callahan CA, Hymowitz SG, Siebel CW. Therapeutic antibody targeting of individual Notch receptors. Nature 2010, 464:1052-1057. 10.1038/nature08878, 20393564.
47. Moellering RE, Cornejo M, Davis TN, Del Bianco C, Aster JC, Blacklow SC, Kung AL, Gilliland DG, Verdine GL, Bradner JE. Direct inhibition of the NOTCH transcription factor complex. Nature 2009, 462:182-188. 10.1038/nature08543, 2951323, 19907488.
48. Clappier E, Collette S, Grardel N, Girard S, Suarez L, Brunie G, Kaltenbach S, Yakouben K, Mazingue F, Robert A, Boutard P, Plantaz D, Rohrlich P, van Vlierberghe P, Preudhomme C, Otten J, Speleman F, Dastugue N, Suciu S, Benoit Y, Bertrand Y, Cavé H, . EORTC-CLG NOTCH1 and FBXW7 mutations have a favorable impact on early response to treatment, but not on outcome, in children with T-cell acute lymphoblastic leukemia (T-ALL) treated on EORTC trials 58881 and 58951. Leukemia 2010, 24:2023-2031. 10.1038/leu.2010.205, 20861920, EORTC-CLG.
49. Park MJ, Taki T, Oda M, Watanabe T, Yumura-Yagi K, Kobayashi R, Suzuki N, Hara J, Horibe K, Hayashi Y. FBXW7 and NOTCH1 mutations in childhood T cell acute lymphoblastic leukaemia and T cell non-Hodgkin lymphoma. Br J Haematol 2009, 145:198-206. 10.1111/j.1365-2141.2009.07607.x, 19245433.
50. Sportoletti P, Baldoni S, Cavalli L, Del Papa B, Bonifacio E, Ciurnelli R, Bell AS, Di Tommaso A, Rosati E, Crescenzi B, Mecucci C, Screpanti I, Marconi P, Martelli MF, Di Iannini M, Falzetti F. NOTCH1 PEST domain mutation is an adverse prognostic factor in B-CLL. Br J Haematol 2010, 151:404-406. 10.1111/j.1365-2141.2010.08368.x, 20813007.
51. Di Ianni M, Baldoni S, Rosati E, Ciurnelli R, Cavalli L, Martelli MF, Marconi P, Screpanti I, Falzetti F. A new genetic lesion in B-CLL: a NOTCH1 PEST domain mutation. Br J Haematol 2009, 146:689-691. 10.1111/j.1365-2141.2009.07816.x, 19604236.
52. Puente XS, Pinyol M, Quesada V, Conde L, Ordóñez GR, Villamor N, Escaramis G, Jares P, Beà S, González-Díaz M, Bassaganyas L, Baumann T, Juan M, López-Guerra M, Colomer D, Tubío JM, López C, Navarro A, Tornador C, Aymerich M, Rozman M, Hernández JM, Puente DA, Freije JM, Velasco G, Gutiérrez-Fernández A, Costa D, Carrió A, Guijarro S, Enjuanes A, et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature 2011, 475:101-105. 10.1038/nature10113, 21642962.
53. Fu L, Kogoshi H, Nara N, Tohda S. NOTCH1 mutations are rare in acute myeloid leukemia. Leuk Lymphoma 2006, 47:2400-2403. 10.1080/10428190600773339, 17107915.