MAX inactivation is an early event in GIST development that regulates p16 and cell proliferation

Nature Communications

Volumn 8, Issue , 2017, Pages

  Schaefer, Inga Marie ^a   Wang, Yuexiang ^a,i   Liang, Cher Wei ^a,j   Bahri, Nacef ^a   Quattrone, Anna ^a,b   Doyle, Leona ^a   Marinõ Enríquez, Adrian ^a   Lauria, Alexandra ^a   Zhu, Meijun ^a   Debiec Rychter, Maria ^b   Grunewald, Susanne ^c   Hechtman, Jaclyn F ^d   Dufresne, Armelle ^a   Antonescu, Cristina R ^d   Beadling, Carol ^e   Sicinska, Ewa T ^f   Van De Rijn, Matt ^g   Demetri, George D ^f   Ladanyi, Marc ^d   Corless, Christopher L ^e   Heinrich, Michael C ^h   Raut, Chandrajit P ^a   Bauer, Sebastian ^c   Fletcher, Jonathan A ^a   more..

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

ⁱ SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^j NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MAX PROTEIN; PROTEIN P16; BASIC HELIX LOOP HELIX LEUCINE ZIPPER TRANSCRIPTION FACTOR; CYCLIN DEPENDENT KINASE INHIBITOR 2A; MAX PROTEIN, HUMAN; NEUROFIBROMIN; P16 PROTEIN, HUMAN; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; STEM CELL FACTOR RECEPTOR; SUCCINATE DEHYDROGENASE;

CELLS AND CELL COMPONENTS; CHROMOSOME; GENE EXPRESSION; MUTATION; PROTEIN; TUMOR;

ARTICLE; CELL CYCLE; CELL PROLIFERATION; CHROMOSOME 14Q; CONTROLLED STUDY; GASTROINTESTINAL STROMAL TUMOR; GENE DELETION; GENE INACTIVATION; GENE MUTATION; GENE SEQUENCE; GENOMICS; HUMAN; HUMAN CELL; PROTEIN EXPRESSION; TUMOR GROWTH; CHROMOSOME 14; CHROMOSOME DELETION; DISEASE EXACERBATION; DNA MUTATIONAL ANALYSIS; FEMALE; GASTROINTESTINAL TUMOR; GENE SILENCING; GENETICS; LOSS OF FUNCTION MUTATION; MALE;

BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CELL CYCLE; CELL PROLIFERATION; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; CYCLIN-DEPENDENT KINASE INHIBITOR P16; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GASTROINTESTINAL NEOPLASMS; GASTROINTESTINAL STROMAL TUMORS; GENE SILENCING; HUMANS; LOSS OF FUNCTION MUTATION; MALE; NEUROFIBROMIN 1; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA; SUCCINATE DEHYDROGENASE;

EID: 85014744004     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms14674     Document Type: Article

References (25)

1. Hirota, S., et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 279, 577-580 (1998).
2. Heinrich, M. C., et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 299, 708-710 (2003).
3. Agaimy, A., et al. Minute gastric sclerosing stromal tumors (GIST tumorlets) are common in adults and frequently show c-KIT mutations. Am. J. Surg. Pathol. 31, 113-120 (2007).
4. El-Rifai, W., Sarlomo-Rikala, M., Andersson, L. C., Knuutila, S., Miettinen, M. DNA sequence copy number changes in gastrointestinal stromal tumors: tumor progression and prognostic significance. Cancer Res. 60, 3899-3903 (2000).
5. Wozniak, A., et al. Array CGH analysis in primary gastrointestinal stromal tumors: cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status. Genes Chromosomes Cancer 46, 261-276 (2007).
6. Gunawan, B., et al. An oncogenetic tree model in gastrointestinal stromal tumours (GISTs) identifies different pathways of cytogenetic evolution with prognostic implications. J. Pathol. 211, 463-470 (2007).
7. Henze, J., et al. p53 modulation as a therapeutic strategy in gastrointestinal stromal tumors. PLoS ONE 7, e37776 (2012).
8. Wang, Y., et al. Dystrophin is a tumor suppressor in human cancers with myogenic programs. Nat. Genet. 46, 601-606 (2014).
9. Schaefer, I. M., et al. Chromosomal aberrations in primary PDGFRA-mutated gastrointestinal stromal tumors. Hum. Pathol. 45, 85-97 (2014).
10. Yamamoto, H., et al. Neurofibromatosis type 1-related gastrointestinal stromal tumors: a special reference to loss of heterozygosity at 14q and 22q. J. Cancer Res. Clin. Oncol. 135, 791-798 (2009).
11. Miettinen, M., Lasota, J. Gastrointestinal stromal tumors: pathology and prognosis at different sites. Semin. Diagn. Pathol. 23, 70-83 (2006).
12. Agaimy, A., Vassos, N., Croner, R. S. Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen's disease): clinicopathological spectrum with pathogenetic considerations. Int. J. Clin. Exp. Pathol. 5, 852-862 (2012).
13. Miettinen, M., Fetsch, J. F., Sobin, L. H., Lasota, J. Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. Am. J. Surg. Pathol. 30, 90-96 (2006).
14. Mussi, C., Schildhaus, H. U., Gronchi, A., Wardelmann, E., Hohenberger, P. Therapeutic consequences from molecular biology for gastrointestinal stromal tumor patients affected by neurofibromatosis type 1. Clin. Cancer Res. 14, 4550-4555 (2008).
15. Beadling, C., et al. Combining highly multiplexed PCR with semiconductorbased sequencing for rapid cancer genotyping. J. Mol. Diagn. 15, 171-176 (2013).
16. Stoddard, J. L., Niemela, J. E., Fleisher, T. A., Rosenzweig, S. D. Targeted NGS: a cost-effective approach to molecular diagnosis of PIDs. Front Immunol. 5, 531 (2014).
17. Blackwood, E. M., Eisenman, R. N. Max: a helix-loop-helix zipper protein that forms a sequence-specific DNA-binding complex with Myc. Science 251, 1211-1217 (1991).
18. Prendergast, G. C., Lawe, D., Ziff, E. B. Association of Myn, the murine homolog of max, with c-Myc stimulates methylation-sensitive DNA binding and ras cotransformation. Cell 65, 395-407 (1991).
19. Blackwood, E. M., Luscher, B., Eisenman, R. N. Myc and Max associate in vivo. Genes Dev. 6, 71-80 (1992).
20. Nair, S. K., Burley, S. K. X-ray structures of Myc-Max and Mad-Max recognizing DNA. Molecular bases of regulation by proto-oncogenic transcription factors. Cell 112, 193-205 (2003).
21. Comino-Mendez, I., et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat. Genet. 43, 663-667 (2011).
22. Romero, O. A., et al. MAX inactivation in small cell lung cancer disrupts MYC-SWI/SNF programs and is synthetic lethal with BRG1. Cancer Discov. 4, 292-303 (2014).
23. Belinsky, M. G., et al. Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case. BMC Cancer 15, 887 (2015).
24. Rubin, B. P., et al. KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res. 61, 8118-8121 (2001).
25. Ou, W. B., Zhu, M. J., Demetri, G. D., Fletcher, C. D., Fletcher, J. A. Protein kinase C-theta regulates KIT expression and proliferation in gastrointestinal stromal tumors. Oncogene 27, 5624-5634 (2008).