Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms

Blood

Volumn 113, Issue 24, 2009, Pages 6182-6192

  Grand, Francis H ^a,b   Hidalgo Curtis, Claire E ^a,b   Ernst, Thomas ^a,b   Zoi, Katerina ^c   Zoi, Christine ^c   McGuire, Carolann ^b   Kreil, Sebastian ^a,b   Jones, Amy ^a,b   Score, Joannah ^a,b   Metzgeroth, Georgia ^d   Oscier, David ^e   Hall, Andrew ^f   Brandts, Christian ^g   Serve, Hubert ^g   Reiter, Andreas ^d   Chase, Andrew J ^a,b   Cross, Nicholas C P ^a,b  

^a SALISBURY NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c Academy of Athens Biomedical Research Foundation   (Greece)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e ROYAL BOURNEMOUTH HOSPITAL   (United Kingdom)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

^g GOETHE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CD135 ANTIGEN; UBIQUITIN PROTEIN LIGASE; CBL PROTEIN; CBL PROTEIN, HUMAN; FLT3 PROTEIN, HUMAN; JANUS KINASE 2; MICROSATELLITE DNA;

ANIMAL CELL; ARTICLE; ATYPICAL CHRONIC MYELOID LEUKEMIA; CBL GENE; CHROMOSOME 11Q; CHROMOSOME 7Q; CHRONIC MYELOMONOCYTIC LEUKEMIA; CONTROLLED STUDY; EOSINOPHILIC LEUKEMIA; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HYPEREOSINOPHILIC SYNDROME; JAK2 GENE; MAJOR CLINICAL STUDY; MOUSE; MYELOFIBROSIS; MYELOPROLIFERATIVE DISORDER; NONHUMAN; POLYCYTHEMIA VERA; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; BONE MARROW CELL; CHROMOSOME 11; DRUG ANTAGONISM; GENETICS; HUMAN GENOME; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; PATHOLOGY; PROGNOSIS; SEQUENCE HOMOLOGY; SURVIVAL RATE;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; CHROMOSOMES, HUMAN, PAIR 11; FMS-LIKE TYROSINE KINASE 3; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; JANUS KINASE 2; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYELOID CELLS; MYELOPROLIFERATIVE DISORDERS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; PROTO-ONCOGENE PROTEINS C-CBL; SEQUENCE HOMOLOGY, AMINO ACID; SURVIVAL RATE; UNIPARENTAL DISOMY;

EID: 67650401377     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-12-194548     Document Type: Article

References (38)

1. Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-ofcare diagnostic algorithms. Leukemia. 2008;22:14-22.
2. Reiter A, Walz C, Cross NCP. Tyrosine kinases as therapeutic targets in BCR-ABL negative chronic myeloproliferative disorders. Current Drug Targets. 2007;8:205-216. (Pubitemid 46299669)
3. De Keersmaecker K, Cools J. Chronic myeloproliferative disorders: a tyrosine kinase tale. Leukemia. 2006;20:200-205. (Pubitemid 43148653)
4. Shtivelman E, Lifshitz B, Gale RP, Canaani E. Fused transcript of abl and bcr genes in chronic myelogenous leukaemia. Nature. 1985;315:550-554. (Pubitemid 15021190)
5. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005; 434:1144-1148. (Pubitemid 40663494)
6. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352:1779-1790. (Pubitemid 40570926)
7. Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7:387-397. (Pubitemid 40544655)
8. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365: 1054-1061. (Pubitemid 40386783)
9. Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofi- brosis with myeloid metaplasia. PLoS Med. 2006; 3:e270.
10. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005;106:2162-2168. (Pubitemid 41291734)
11. Kralovics R, Guan Y, Prchal JT. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol. 2002;30:229-236. (Pubitemid 34203729)
12. Yamamoto G, Nannya Y, Kato M, et al. Highly sensitive method for genomewide detection of allelic composition in nonpaired, primary tumor specimens by use of affymetrix single-nucleotidepolymorphism genotyping microarrays. Am J Hum Genet. 2007;81:114-126. (Pubitemid 47001161)
13. Fitzgibbon J, Smith LL, Raghavan M, et al. Association between acquired uniparental disomy and homozygous gene mutation in acute myeloid leukemias. Cancer Res. 2005;65:9152-9154. (Pubitemid 41507976)
14. White HE, Hall VJ, Cross NCP. Methylationsensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. Clin Chem. 2007;53:1960-1962.
15. Sargin B, Choudhary C, Crosetto N, et al. Flt3- dependent transformation by inactivating c-Cbl mutations in AML. Blood. 2007;110:1004-1012. (Pubitemid 47267440)
16. Grand FH, Iqbal S, Zhang L, et al. A constitutively active SPTBN1-FLT3 fusion in atypical chronic myeloid leukemia is sensitive to tyrosine kinase inhibitors and immunotherapy. Exp Hematol. 2007;35:1723-1727. (Pubitemid 47633767)
17. Morita S, Kojima T, Kitamura T. Plat-E: an efficient and stable system for transient packaging of retroviruses. Gene Ther. 2000;7:1063-1066. (Pubitemid 30398356)
18. George P, Bali P, Cohen P, et al. Cotreatment with 17-allylamino- demethoxygeldanamycin and FLT-3 kinase inhibitor PKC412 is highly effective against human acute myelogenous leukemia cells with mutant FLT-3. Cancer Res. 2004;64: 3645-3652. (Pubitemid 38657944)
19. Simon-Sanchez J, Scholz S, Fung HC, et al. Genome- wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet. 2007;16:1-14. (Pubitemid 46152540)
20. Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature. 2002; 417:949-954. (Pubitemid 34716871)
21. Thien CB, Langdon WY. Negative regulation of PTK signalling by Cbl proteins. Growth Factors. 2005;23:161-167.
22. Melo JV, Barnes DJ. Chronic myeloid leukaemia as a model of disease evolution in human cancer. Nat Rev Cancer. 2007;7:441-453. (Pubitemid 46823444)
23. Caligiuri MA, Briesewitz R, Yu J, et al. Novel c-CBL and CBL-b ubiquitin ligase mutations in human acute myeloid leukemia. Blood. 2007;110: 1022-1024. (Pubitemid 47267442)
24. Swaminathan G, Tsygankov AY. The Cbl family proteins: ring leaders in regulation of cell signaling. J. Cell Physiol. 2006;209:21-43. (Pubitemid 44318665)
25. Schmidt MH, Dikic I. The Cbl interactome and its functions. Nat Rev Mol Cell Biol. 2005;6:907-918.
26. Langdon WY, Hartley JW, Klinken SP, Ruscetti SK, Morse HC III. v-cbl, an oncogene from a dual-recombinant murine retrovirus that induces early B-lineage lymphomas. Proc Natl Acad Sci U S A. 1989;86:1168-1172.
27. Abbas S, Rotmans G, Lowenberg B, Valk PJ. Exon 8 splice site mutations in the gene encoding the E3-ligase CBL are associated with core binding factor acute myeloid leukemias. Haematologica. 2008;93:1595-1597.
28. Gondek LP, Tiu R, O'Keefe CL, et al. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDSderived AML. Blood. 2008;111:1534-1542.
29. Dunbar AJ, Gondek LP, O'Keefe CL, et al. 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Res. 2008;68:10349-10357.
30. Thien CB, Walker F, Langdon WY. RING finger mutations that abolish c-Cbl-directed polyubiquitination and downregulation of the EGF receptor are insufficient for cell transformation. Mol Cell. 2001;7:355-365. (Pubitemid 32206503)
31. Frohling S, Scholl C, Levine RL, et al. Identification of driver and passenger mutations of FLT3 by high-throughput DNA sequence analysis and functional assessment of candidate alleles. Cancer Cell. 2007;12:501-513. (Pubitemid 350199072)
32. Campbell PJ, Baxter EJ, Beer PA, et al. Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation. Blood. 2006; 108:3548-3555.
33. Theocharides A, Boissinot M, Girodon F, et al. Leukemic blasts in transformed JAK2-V617Fpositive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. Blood. 2007;110:375-379. (Pubitemid 47026857)
34. Thien CB, Blystad FD, Zhan Y, et al. Loss of c-Cbl RING finger function results in high-intensity TCR signaling and thymic deletion. EMBO J. 2005;24: 3807-3819. (Pubitemid 41581696)
35. Rathinam C, Thien CB, Langdon WY, Gu H, Flavell RA. The E3 ubiquitin ligase c-Cbl restricts development and functions of hematopoietic stem cells. Genes Dev. 2008;22:992-997. (Pubitemid 351544238)
36. Cain JA, Xiang Z, O'Neal J, et al. Myeloproliferative disease induced by TEL-PDGFRB displays dynamic range sensitivity to Stat5 gene dosage. Blood. 2007;109:3906-3914. (Pubitemid 46641743)
37. Kotecha N, Flores NJ, Irish JM, et al. Single-cell profiling identifies aberrant STAT5 activation in myeloid malignancies with specific clinical and biologic correlates. Cancer Cell. 2008;14:335-343.
38. Slape C, Liu LY, Beachy S, Aplan PD. Leukemic transformation in mice expressing a NUP98- HOXD13 transgene is accompanied by spontaneous mutations in Nras, Kras, and Cbl. Blood. 2008;112:2017-2019.