Aberrant chromatin remodeling in gynecological cancer (Review)
- Authors:
- Ryuichiro Okawa
- Kouji Banno
- Miho Iida
- Megumi Yanokura
- Takashi Takeda
- Moito Iijima
- Haruko Kunitomi‑Irie
- Kanako Nakamura
- Masataka Adachi
- Kiyoko Umene
- Yuya Nogami
- Kenta Masuda
- Yusuke Kobayashi
- Eiichiro Tominaga
- Daisuke Aoki
-
Affiliations: Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo 160‑8582, Japan - Published online on: September 6, 2017 https://doi.org/10.3892/ol.2017.6891
- Pages: 5107-5113
This article is mentioned in:
Abstract
Weaver IC, Korgan AC, Lee K, Wheeler RV, Hundert AS and Goguen D: Stress and the emerging roles of chromatin remodeling in signal integration and stable transmission of reversible phenotypes. Front Behav Neurosci. 11:412017. View Article : Google Scholar : PubMed/NCBI | |
Takeda T, Banno K, Okawa R, Yanokura M, Iijima M, Irie-Kunitomi H, Nakamura K, Iida M, Adachi M, Umene K, et al: ARID1A gene mutation in ovarian and endometrial cancers (Review). Oncol Rep. 35:607–613. 2016. View Article : Google Scholar : PubMed/NCBI | |
Clapier CR and Cairns BR: The biology of chromatin remodeling complexes. Annu Rev Biochem. 78:273–304. 2009. View Article : Google Scholar : PubMed/NCBI | |
Ronan JL, Wu W and Crabtree GR: From neural development to cognition: Unexpected roles for chromatin. Nat Rev Genet. 14:347–359. 2013. View Article : Google Scholar : PubMed/NCBI | |
Huang B, Jiang C and Zhang R: Epigenetics: The language of the cell? Epigenomics. 6:73–88. 2014. View Article : Google Scholar : PubMed/NCBI | |
Alberts B, Johnson A, Lewis J, Raff M, Roberts K and Walter P: Molecular biology of the cell, 5th edition. Science. 215–216. 2008.PubMed/NCBI | |
Wilson BG and Roberts CW: SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer. 11:481–492. 2011. View Article : Google Scholar : PubMed/NCBI | |
Oike T, Ogiwara H, Nakano T, Yokota J and Kohno T: Inactivating mutations in SWI/SNF chromatin remodeling genes in human cancer. Jpn J Clin Oncol. 43:849–855. 2013. View Article : Google Scholar : PubMed/NCBI | |
Jones S, Wang TL, Shih IeM, Mao TL, Nakayama K, Roden R, Glas R, Slamon D, Diaz LA Jr, Vogelstein B, et al: Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma. Science. 330:228–231. 2010. View Article : Google Scholar : PubMed/NCBI | |
Mayes K, Qiu Z, Alhazmi A and Landry JW: ATP-dependent chromatin remodeling complexes as novel targets for cancer therapy. Adv Cancer Res. 121:183–233. 2014. View Article : Google Scholar : PubMed/NCBI | |
Li WD, Li QR, Xu SN, Wei FJ, Ye ZJ, Cheng JK and Chen JP: Exome sequencing identifies an MLL3 gene germ line mutation in a pedigree of colorectal cancer and acute myeloid leukemia. Blood. 121:1478–1479. 2013. View Article : Google Scholar : PubMed/NCBI | |
Fujimoto A, Totoki Y, Abe T, Boroevich KA, Hosoda F, Nguyen HH, Aoki M, Hosono N, Kubo M, Miya F, et al: Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. Nat Genet. 44:760–764. 2012. View Article : Google Scholar : PubMed/NCBI | |
Gui Y, Guo G, Huang Y, Hu X, Tang A, Gao S, Wu R, Chen C, Li X, Zhou L, et al: Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder. Nat Genet. 43:875–878. 2011. View Article : Google Scholar : PubMed/NCBI | |
Lindberg J, Mills IG, Klevebring D, Liu W, Neiman M, Xu J, Wikström P, Wiklund P, Wiklund F, Egevad L and Grönberg H: The mitochondrial and autosomal mutation landscapes of prostate cancer. Eur Urol. 63:702–708. 2013. View Article : Google Scholar : PubMed/NCBI | |
Watanabe Y, Castoro RJ, Kim HS, North B, Oikawa R, Hiraishi T, Ahmed SS, Chung W, Cho MY, Toyota M, et al: Frequent alteration of MLL3 frameshift mutations in microsatellite deficient colorectal cancer. PLoS One. 6:e233202011. View Article : Google Scholar : PubMed/NCBI | |
Zang ZJ, Cutcutache I, Poon SL, Zhang SL, McPherson JR, Tao J, Rajasegaran V, Heng HL, Deng N, Gan A, et al: Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes. Nat Genet. 44:570–574. 2012. View Article : Google Scholar : PubMed/NCBI | |
Liu P, Morrison C, Wang L, Xiong D, Vedell P, Cui P, Hua X, Ding F, Lu Y, James M, et al: Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing. Carcinogenesis. 33:1270–1276. 2012. View Article : Google Scholar : PubMed/NCBI | |
Ellis MJ, Ding L, Shen D, Luo J, Suman VJ, Wallis JW, Van Tine BA, Hoog J, Goiffon RJ, Goldstein TC, et al: Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature. 486:353–360. 2012.PubMed/NCBI | |
Biankin AV, Waddell N, Kassahn KS, Gingras MC, Muthuswamy LB, Johns AL, Miller DK, Wilson PJ, Patch AM, Wu J, et al: Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature. 491:399–405. 2012. View Article : Google Scholar : PubMed/NCBI | |
Je EM and Lee SH, Yoo NJ and Lee SH: Mutational and expressional analysis of MLL genes in gastric and colorectal cancers with microsatellite instability. Neoplasma. 60:188–195. 2013. View Article : Google Scholar : PubMed/NCBI | |
Wu JN and Roberts CW: ARID1A mutations in cancer: Another epigenetic tumor suppressor? Cancer Discov. 3:35–43. 2013. View Article : Google Scholar : PubMed/NCBI | |
Trotter KW, Fan HY, Ivey ML, Kingston RE and Archer TK: The HSA domain of BRG1 mediates critical interactions required for glucocorticoid receptor-dependent transcriptional activation in vivo. Mol Cell Biol. 28:1413–1426. 2008. View Article : Google Scholar : PubMed/NCBI | |
Inoue H, Furukawa T, Giannakopoulos S, Zhou S, King DS and Tanese N: Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors. J Biol Chem. 277:41674–41685. 2002. View Article : Google Scholar : PubMed/NCBI | |
Huang HN, Lin MC, Huang WC, Chiang YC and Kuo KT: Loss of ARID1A expression and its relationship with PI3K-Akt pathway alterations and ZNF217 amplification in ovarian clear cell carcinoma. Mod Pathol. 27:983–990. 2014. View Article : Google Scholar : PubMed/NCBI | |
Biegel JA, Busse TM and Weissman BE: SWI/SNF chromatin remodeling complexes and cancer. Am J Med Genet C Semin Med Genet. 166C:350–366. 2014. View Article : Google Scholar : PubMed/NCBI | |
Reisman D, Glaros S and Thompson EA: The SWI/SNF complex and cancer. Oncogene. 28:1653–1668. 2009. View Article : Google Scholar : PubMed/NCBI | |
Yamada M, Sato N, Ikeda S, Arai T, Sawabe M, Mori S, Yamada Y, Muramatsu M and Tanaka M: Association of the chromodomain helicase DNA-binding protein 4 (CHD4) missense variation p.D140E with cancer: Potential interaction with smoking. Genes Chromosomes Cancer. 54:122–128. 2015. View Article : Google Scholar : PubMed/NCBI | |
Zhao S, Choi M, Overton JD, Bellone S, Roque DM, Cocco E, Guzzo F, English DP, Varughese J, Gasparrini S, et al: Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma. Proc Natl Acad Sci USA. 110:2916–2921. 2013. View Article : Google Scholar : PubMed/NCBI | |
Le Gallo M, O'Hara AJ, Rudd ML, Urick ME, Hansen NF, O'Neil NJ, Price JC, Zhang S, England BM, Godwin AK, et al: Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes. Nat Genet. 44:1310–1315. 2012. View Article : Google Scholar : PubMed/NCBI | |
Kim MS, Chung NG, Kang MR, Yoo NJ and Lee SH: Genetic and expressional alterations of CHD genes in gastric and colorectal cancers. Histopathology. 58:660–668. 2011. View Article : Google Scholar : PubMed/NCBI | |
Sasaki MM, Skol AD, Bao R, Rhodes LV, Chambers R, Vokes EE, Cohen EE and Onel K: Integrated genomic analysis suggests MLL3 is a novel candidate susceptibility gene for familial nasopharyngeal carcinoma. Cancer Epidemiol Biomarkers Prev. 24:1222–1228. 2015. View Article : Google Scholar : PubMed/NCBI | |
Villacis RA, Miranda PM, Gomy I, Santos EM, Carraro DM, Achatz MI, Rossi BM and Rogatto SR: Contribution of rare germline copy number variations and common susceptibility loci in Lynch syndrome patients negative for mutations in the mismatch repair genes. Int J Cancer. 138:1928–1935. 2016. View Article : Google Scholar : PubMed/NCBI | |
Kim KH and Roberts CW: Targeting EZH2 in cancer. Nat Med. 22:128–134. 2016. View Article : Google Scholar : PubMed/NCBI | |
Yang Q, Laknaur A, Elam L, Ismail N, Gavrilova-Jordan L, Lue J, Diamond MP and Al-Hendy A: Identification of polycomb group protein EZH2-mediated DNA mismatch repair gene MSH2 in human uterine fibroids. Reprod Sci. 23:1314–1325. 2016. View Article : Google Scholar : PubMed/NCBI | |
Cai L, Wang Z and Liu D: Interference with endogenous EZH2 reverses the chemotherapy drug resistance in cervical cancer cells partly by up-regulating Dicer expression. Tumour Biol. 37:6359–6369. 2016. View Article : Google Scholar : PubMed/NCBI | |
Lu C, Han HD, Mangala LS, Ali-Fehmi R, Newton CS, Ozbun L, Armaiz-Pena GN, Hu W, Stone RL, Munkarah A, et al: Regulation of tumor angiogenesis by EZH2. Cancer Cell. 18:185–197. 2010. View Article : Google Scholar : PubMed/NCBI | |
Crotzer DR, Sun CC, Coleman RL, Wolf JK, Levenback CF and Gershenson DM: Lack of effective systemic therapy for recurrent clear cell carcinoma of the ovary. Gynecol Oncol. 105:404–408. 2007. View Article : Google Scholar : PubMed/NCBI | |
Viganó P, Somigliana E, Chiodo I, Abbiati A and Vercellini P: Molecular mechanisms and biological plausibility underlying the malignant transformation of endometriosis: A critical analysis. Hum Reprod Update. 12:77–89. 2006. View Article : Google Scholar : PubMed/NCBI | |
Nishikimi K, Kiyokawa T, Tate S, Iwamoto M and Shozu M: ARID1A expression in ovarian clear cell carcinoma with an adenofibromatous component. Histopathology. 67:866–871. 2015. View Article : Google Scholar : PubMed/NCBI | |
Nagl NG Jr, Wang X, Patsialou A, Van Scoy M and Moran E: Distinct mammalian SWI/SNF chromatin remodeling complexes with opposing roles in cell-cycle control. EMBO J. 26:752–763. 2007. View Article : Google Scholar : PubMed/NCBI | |
Weissman B and Knudsen KE: Hijacking the chromatin remodeling machinery: Impact of SWI/SNF perturbations in cancer. Cancer Res. 69:8223–8230. 2009. View Article : Google Scholar : PubMed/NCBI | |
Wiegand KC, Shah SP, Al-Agha OM, Zhao Y, Tse K, Zeng T, Senz J, McConechy MK, Anglesio MS, Kalloger SE, et al: ARID1A mutations in endometriosis-associated ovarian carcinomas. N Engl J Med. 363:1532–1543. 2010. View Article : Google Scholar : PubMed/NCBI | |
Itamochi H, Oumi N, Oishi T, Shoji T, Fujiwara H, Sugiyama T, Suzuki M, Kigawa J and Harada T: Loss of ARID1A expression is associated with poor prognosis in patients with stage I/II clear cell carcinoma of the ovary. Int J Clin Oncol. 20:967–973. 2015. View Article : Google Scholar : PubMed/NCBI | |
Conlon N, Silva A, Guerra E, Jelinic P, Schlappe BA, Olvera N, Mueller JJ, Tornos C, Jungbluth AA, Young RH, et al: Loss of SMARCA4 expression is both sensitive and specific for the diagnosis of small cell carcinoma of ovary, hypercalcemic type. Am J Surg Pathol. 40:395–403. 2016. View Article : Google Scholar : PubMed/NCBI | |
Jelinic P, Mueller JJ, Olvera N, Dao F, Scott SN, Shah R, Gao J, Schultz N, Gonen M, Soslow RA, et al: Recurrent SMARCA4 mutations in small cell carcinoma of the ovary. Nat Genet. 46:424–426. 2014. View Article : Google Scholar : PubMed/NCBI | |
Ramos P, Karnezis AN, Craig DW, Sekulic A, Russell ML, Hendricks WP, Corneveaux JJ, Barrett MT, Shumansky K, Yang Y, et al: Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. Nat Genet. 46:427–429. 2014. View Article : Google Scholar : PubMed/NCBI | |
Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, et al: Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nat Genet. 46:438–443. 2014. View Article : Google Scholar : PubMed/NCBI | |
Schneppenheim R, Frühwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Subero Martin JI, Obser T, et al: Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet. 86:279–284. 2010. View Article : Google Scholar : PubMed/NCBI | |
Yoshimoto T, Matsubara D, Nakano T, Tamura T, Endo S, Sugiyama Y and Niki T: Frequent loss of the expression of multiple subunits of the SWI/SNF complex in large cell carcinoma and pleomorphic carcinoma of the lung. Pathol Int. 65:595–602. 2015. View Article : Google Scholar : PubMed/NCBI | |
Helming KC, Wang X and Roberts CW: Vulnerabilities of mutant SWI/SNF complexes in cancer. Cancer Cell. 26:309–317. 2014. View Article : Google Scholar : PubMed/NCBI | |
Sherman ME: Theories of endometrial carcinogenesis: A multidisciplinary approach. Mod Pathol. 13:295–308. 2000. View Article : Google Scholar : PubMed/NCBI | |
Polo SE, Kaidi A, Baskcomb L, Galanty Y and Jackson SP: Regulation of DNA-damage responses and cell-cycle progression by the chromatin remodelling factor CHD4. EMBO J. 29:3130–3139. 2010. View Article : Google Scholar : PubMed/NCBI | |
Duman BB, Kara IO, Günaldi M and Ercolak V: Malignant mixed Mullerian tumor of the ovary with two cases and review of the literature. Arch Gynecol Obstet. 283:1363–1368. 2011. View Article : Google Scholar : PubMed/NCBI | |
Sharma NK, Sorosky JI, Bender D, Fletcher MS and Sood AK: Malignant mixed mullerian tumor (MMMT) of the cervix. Gynecol Oncol. 97:442–445. 2005. View Article : Google Scholar : PubMed/NCBI | |
Ahuja A, Safaya R, Prakash G, Kumar L and Shukla NK: Primary mixed mullerian tumor of the vagina - a case report with review of the literature. Pathol Res Pract. 207:253–255. 2011. View Article : Google Scholar : PubMed/NCBI | |
George EM, Herzog TJ, Neugut AI, Lu YS, Burke WM, Lewin SN, Hershman DL and Wright JD: Carcinosarcoma of the ovary: Natural history, patterns of treatment, and outcome. Gynecol Oncol. 131:42–45. 2013. View Article : Google Scholar : PubMed/NCBI | |
Jones S, Stransky N, McCord CL, Cerami E, Lagowski J, Kelly D, Angiuoli SV, Sausen M, Kann L, Shukla M, et al: Genomic analyses of gynaecologic carcinosarcomas reveal frequent mutations in chromatin remodelling genes. Nat Commun. 5:50062014. View Article : Google Scholar : PubMed/NCBI | |
Lee J, Kim DH, Lee S, Yang QH, Lee DK, Lee SK, Roeder RG and Lee JW: A tumor suppressive coactivator complex of p53 containing ASC-2 and histone H3-lysine-4 methyltransferase MLL3 or its paralogue MLL4. Proc Natl Acad Sci USA. 106:8513–8518. 2009. View Article : Google Scholar : PubMed/NCBI | |
Kwon JE, La M, Oh KH, Oh YM, Kim GR, Seol JH, Baek SH, Chiba T, Tanaka K, Bang OS, et al: BTB domain-containing speckle-type POZ protein (SPOP) serves as an adaptor of Daxx for ubiquitination by Cul3-based ubiquitin ligase. J Biol Chem. 281:12664–12672. 2006. View Article : Google Scholar : PubMed/NCBI | |
Samartzis EP, Gutsche K, Dedes KJ, Fink D, Stucki M and Imesch P: Loss of ARID1A expression sensitizes cancer cells to PI3K- and AKT-inhibition. Oncotarget. 5:5295–5303. 2014. View Article : Google Scholar : PubMed/NCBI | |
Bitler BG, Aird KM, Garipov A, Li H, Amatangelo M, Kossenkov AV, Schultz DC, Liu Q, Shih IeM, Conejo-Garcia JR, et al: Synthetic lethality by targeting EZH2 methyltransferase activity in ARID1A-mutated cancers. Nat Med. 21:231–238. 2015.PubMed/NCBI | |
Guan B, Gao M, Wu CH, Wang TL and Shih IeM: Functional analysis of in-frame indel ARID1A mutations reveals new regulatory mechanisms of its tumor suppressor functions. Neoplasia. 14:986–993. 2012. View Article : Google Scholar : PubMed/NCBI | |
Helming KC, Wang X, Wilson BG, Vazquez F, Haswell JR, Manchester HE, Kim Y, Kryukov GV, Ghandi M, Aguirre AJ, et al: ARID1B is a specific vulnerability in ARID1A-mutant cancers. Nat Med. 20:251–254. 2014. View Article : Google Scholar : PubMed/NCBI | |
Nagymanyoki Z, Mutter GL, Hornick JL and Cibas ES: ARID1A is a useful marker of malignancy in peritoneal washings for endometrial carcinoma. Cancer Cytopathol. 123:253–257. 2015. View Article : Google Scholar : PubMed/NCBI |