Ovarian steroid cell tumor with biallelic adenomatous polyposis coli inactivation in a patient with familial adenomatous polyposis
dc.contributor.author | Hu, Patrick J. | en_US |
dc.contributor.author | Knoepp, Stewart M. | en_US |
dc.contributor.author | Wu, Rong | en_US |
dc.contributor.author | Cho, Kathleen R. | en_US |
dc.date.accessioned | 2012-03-16T16:01:19Z | |
dc.date.available | 2013-05-01T17:24:43Z | en_US |
dc.date.issued | 2012-03 | en_US |
dc.identifier.citation | Hu, Patrick J.; Knoepp, Stewart M.; Wu, Rong; Cho, Kathleen R. (2012). "Ovarian steroid cell tumor with biallelic adenomatous polyposis coli inactivation in a patient with familial adenomatous polyposis." Genes, Chromosomes and Cancer 51(3): 283-289. <http://hdl.handle.net/2027.42/90384> | en_US |
dc.identifier.issn | 1045-2257 | en_US |
dc.identifier.issn | 1098-2264 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/90384 | |
dc.description.abstract | Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome that accounts for approximately 0.5–1% of all colorectal cancer cases. It is caused by germline mutations in the gene encoding the adenomatous polyposis coli ( APC ) tumor suppressor. Somatic APC inactivation due to mutation or loss of heterozygosity (LOH) promotes the development of adenomatous polyps by stabilizing the transcriptional coactivator β‐catenin. Although colorectal cancer is by far the most common malignancy seen in FAP patients, the widespread use of prophylactic colectomy in these patients has increased the clinical importance of extracolonic tumors that are part of the neoplastic spectrum in FAP. Many of these tumors exhibit LOH or somatic APC mutation, strongly supporting a causative role of APC inactivation in their pathogenesis. Here we describe a 47‐year‐old female FAP patient with clinical manifestations of virilization who was found to have an ovarian steroid cell tumor, a rare neoplasm not known to be associated with FAP. Immunohistochemical analysis of the ovarian tumor demonstrated strong nuclear β‐catenin staining consistent with somatic APC inactivation, and molecular analysis confirmed biallelic APC inactivation in the tumor. Our findings provide the first evidence that ovarian steroid cell tumors may be an extracolonic manifestation of FAP and implicate β‐catenin activation as an oncogenic mechanism in ovarian steroid cell tumorigenesis. © 2011 Wiley Periodicals, Inc. | en_US |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.title | Ovarian steroid cell tumor with biallelic adenomatous polyposis coli inactivation in a patient with familial adenomatous polyposis | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbsecondlevel | Oncology and Hematology | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI | en_US |
dc.contributor.affiliationum | University of Michigan Comprehensive Cancer Center, Ann Arbor, MI | en_US |
dc.contributor.affiliationum | Life Sciences Institute, University of Michigan, Ann Arbor, MI | en_US |
dc.contributor.affiliationum | Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI | en_US |
dc.contributor.affiliationum | Department of Pathology, University of Michigan Medical School, Ann Arbor, MI | en_US |
dc.contributor.affiliationother | 6403 LSI, 210 Washtenaw Avenue, Ann Arbor, MI 48109‐2216 | en_US |
dc.identifier.pmid | 22120905 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/90384/1/20953_ftp.pdf | |
dc.identifier.doi | 10.1002/gcc.20953 | en_US |
dc.identifier.source | Genes, Chromosomes and Cancer | en_US |
dc.identifier.citedreference | Miyaki M, Konishi M, Kikuchi‐Yanoshita R, Enomoto M, Tanaka K, Takahashi H, Muraoka M, Mori T, Konishi F, Iwama T. 1993. Coexistence of somatic and germ‐line mutations of APC gene in desmoid tumors from patients with familial adenomatous polyposis. Cancer Res 53: 5079 – 5082. | en_US |
dc.identifier.citedreference | Gaujoux S, Pinson S, Gimenez‐Roqueplo AP, Amar L, Ragazzon B, Launay P, Meatchi T, Libe R, Bertagna X, Audebourg A, Zucman‐Rossi J, Tissier F, Bertherat J. 2010. Inactivation of the APC gene is constant in adrenocortical tumors from patients with familial adenomatous polyposis but not frequent in sporadic adrenocortical cancers. Clin Cancer Res 16: 5133 – 5141. | en_US |
dc.identifier.citedreference | Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Le Paslier D, Abderrahim H, Cohen D, Leppert M, White R. 1991. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66: 589 – 600. | en_US |
dc.identifier.citedreference | Groves C, Lamlum H, Crabtree M, Williamson J, Taylor C, Bass S, Cuthbert‐Heavens D, Hodgson S, Phillips R, Tomlinson I. 2002. Mutation cluster region, association between germline and somatic mutations and genotype‐phenotype correlation in upper gastrointestinal familial adenomatous polyposis. Am J Pathol 160: 2055 – 2061. | en_US |
dc.identifier.citedreference | Half E, Bercovich D, Rozen P. 2009. Familial adenomatous polyposis. Orphanet J Rare Dis 4: 22. | en_US |
dc.identifier.citedreference | Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, Krush AJ, Berk T, Cohen Z, Tetu B, Burger PC, Wood PA, Taqi F, Booker SV, Petersen GM, Offerhaus GJA, Tersmette AC, Giardiello FM, Vogelstein B, Kinzler KW. 1995. The molecular basis of Turcot's syndrome. N Engl J Med 332: 839 – 847. | en_US |
dc.identifier.citedreference | Hayes MC, Scully RE. 1987. Ovarian steroid cell tumors (not otherwise specified). A clinicopathological analysis of 63 cases. Am J Surg Pathol 11: 835 – 845. | en_US |
dc.identifier.citedreference | Hosogi H, Nagayama S, Kanamoto N, Yoshizawa A, Suzuki T, Nakao K, Sakai Y. 2009. Biallelic APC inactivation was responsible for functional adrenocortical adenoma in familial adenomatous polyposis with novel germline mutation of the APC gene: Report of a case. Jpn J Clin Oncol 39: 837 – 846. | en_US |
dc.identifier.citedreference | Ilyas M, Tomlinson IP, Rowan A, Pignatelli M, Bodmer WF. 1997. Beta‐catenin mutations in cell lines established from human colorectal cancers. Proc Natl Acad Sci USA 94: 10330 – 10334. | en_US |
dc.identifier.citedreference | Korinek V, Barker N, Morin PJ, van Wichen D, de Weger R, Kinzler KW, Vogelstein B, Clevers H. 1997. Constitutive transcriptional activation by a beta‐catenin‐Tcf complex in APC ‐/‐ colon carcinoma. Science 275: 1784 – 1787. | en_US |
dc.identifier.citedreference | Kurahashi H, Takami K, Oue T, Kusafuka T, Okada A, Tawa A, Okada S, Nishisho I. 1995. Biallelic inactivation of the APC gene in hepatoblastoma. Cancer Res 55: 5007 – 5011. | en_US |
dc.identifier.citedreference | Lazar AJ, Tuvin D, Hajibashi S, Habeeb S, Bolshakov S, Mayordomo‐Aranda E, Warneke CL, Lopez‐Terrada D, Pollock RE, Lev D. 2008. Specific mutations in the beta‐catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. Am J Pathol 173: 1518 – 1527. | en_US |
dc.identifier.citedreference | Marchesa P, Fazio VW, Church JM, McGannon E. 1997. Adrenal masses in patients with familial adenomatous polyposis. Dis Colon Rectum 40: 1023 – 1028. | en_US |
dc.identifier.citedreference | Miyaki M, Iijima T, Ishii R, Hishima T, Mori T, Yoshinaga K, Takami H, Kuroki T, Iwama T. 2000. Molecular evidence for multicentric development of thyroid carcinomas in patients with familial adenomatous polyposis. Am J Pathol 157: 1825 – 1827. | en_US |
dc.identifier.citedreference | Miyaki M, Konishi M, Kikuchi‐Yanoshita R, Enomoto M, Igari T, Tanaka K, Muraoka M, Takahashi H, Amada Y, Fukayama M, Maeda Y, Iwama T, Mishima Y, Mori T, Koike M. 1994. Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. Cancer Res 54: 3011 – 3020. | en_US |
dc.identifier.citedreference | Miyoshi Y, Nagase H, Ando H, Horii A, Ichii S, Nakatsuru S, Aoki T, Miki Y, Mori T, Nakamura Y. 1992. Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum Mol Genet 1: 229 – 233. | en_US |
dc.identifier.citedreference | Morin PJ, Sparks AB, Korinek V, Barker N, Clevers H, Vogelstein B, Kinzler KW. 1997. Activation of beta‐catenin‐Tcf signaling in colon cancer by mutations in beta‐catenin or APC. Science 275: 1787 – 1790. | en_US |
dc.identifier.citedreference | Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P. 1991. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253: 665 – 669. | en_US |
dc.identifier.citedreference | Scully RE. 1979. Tumors of the Ovary and Maldeveloped Gonads. Washington, D.C.: Armed Forces Institute of Pathology. p 413. | en_US |
dc.identifier.citedreference | Segditsas S, Tomlinson I. 2006. Colorectal cancer and genetic alterations in the Wnt pathway. Oncogene 25: 7531 – 7537. | en_US |
dc.identifier.citedreference | Shah NB, Lindor NM. 2010. Lower gastrointestinal tract cancer predisposition syndromes. Hematol Oncol Clin North Am 24: 1229 – 1252. | en_US |
dc.identifier.citedreference | Smith TG, Clark SK, Katz DE, Reznek RH, Phillips RK. 2000. Adrenal masses are associated with familial adenomatous polyposis. Dis Colon Rectum 43: 1739 – 1742. | en_US |
dc.identifier.citedreference | Stratakis CA. 2003. Genetics of adrenocortical tumors: Gatekeepers, landscapers and conductors in symphony. Trends Endocrinol Metab 14: 404 – 410. | en_US |
dc.identifier.citedreference | Wakatsuki S, Sasano H, Matsui T, Nagashima K, Toyota T, Horii A. 1998. Adrenocortical tumor in a patient with familial adenomatous polyposis: a case associated with a complete inactivating mutation of the APC gene and unusual histological features. Hum Pathol 29: 302 – 306. | en_US |
dc.identifier.citedreference | Abraham SC, Nobukawa B, Giardiello FM, Hamilton SR, Wu TT. 2000. Fundic gland polyps in familial adenomatous polyposis: Neoplasms with frequent somatic adenomatous polyposis coli gene alterations. Am J Pathol 157: 747 – 754. | en_US |
dc.identifier.citedreference | Abraham SC, Wu TT, Klimstra DS, Finn LS, Lee JH, Yeo CJ, Cameron JL, Hruban RH. 2001. Distinctive molecular genetic alterations in sporadic and familial adenomatous polyposis‐associated pancreatoblastomas: Frequent alterations in the APC /beta‐catenin pathway and chromosome 11p. Am J Pathol 159: 1619 – 1627. | en_US |
dc.identifier.citedreference | Aoki K, Taketo MM. 2007. Adenomatous polyposis coli ( APC ): A multi‐functional tumor suppressor gene. J Cell Sci 120: 3327 – 3335. | en_US |
dc.identifier.citedreference | Belchetz LA, Berk T, Bapat BV, Cohen Z, Gallinger S. 1996. Changing causes of mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 39: 384 – 387. | en_US |
dc.identifier.citedreference | Bertario L, Presciuttini S, Sala P, Rossetti C, Pietroiusti M. 1994. Causes of death and postsurgical survival in familial adenomatous polyposis: Results from the Italian Registry. Italian Registry of Familial Polyposis Writing Committee. Semin Surg Oncol 10: 225 – 234. | en_US |
dc.identifier.citedreference | Blaker H, Sutter C, Kadmon M, Otto HF, Von Knebel‐Doeberitz M, Gebert J, Helmke BM. 2004. Analysis of somatic APC mutations in rare extracolonic tumors of patients with familial adenomatous polyposis coli. Genes Chromosomes Cancer 41: 93 – 98. | en_US |
dc.identifier.citedreference | Boerboom D, Paquet M, Hsieh M, Liu J, Jamin SP, Behringer RR, Sirois J, Taketo MM, Richards JS. 2005. Misregulated Wnt/beta‐catenin signaling leads to ovarian granulosa cell tumor development. Cancer Res 65: 9206 – 9215. | en_US |
dc.identifier.citedreference | Bonnet S, Gaujoux S, Launay P, Baudry C, Chokri I, Ragazzon B, Libe R, Rene‐Corail F, Audebourg A, Vacher‐Lavenu MC, Groussin L, Bertagna X, Dousset B, Bertherat J, Tissier F. 2011. Wnt/beta‐catenin pathway activation in adrenocortical adenomas is frequently due to somatic CTNNB1‐activating mutations, which are associated with larger and nonsecreting tumors: A study in cortisol‐secreting and ‐nonsecreting tumors. J Clin Endocrinol Metab 96: E419 – E426. | en_US |
dc.identifier.citedreference | Curia MC, Zuckermann M, De Lellis L, Catalano T, Lattanzio R, Aceto G, Veschi S, Cama A, Otte JB, Piantelli M, Mariani‐Costantini R, Cetta F, Battista P. 2008. Sporadic childhood hepatoblastomas show activation of beta‐catenin, mismatch repair defects and p53 mutations. Mod Pathol 21: 7 – 14. | en_US |
dc.identifier.citedreference | Ellison DW, Kocak M, Dalton J, Megahed H, Lusher ME, Ryan SL, Zhao W, Nicholson SL, Taylor RE, Bailey S, Clifford SC. 2011. Definition of disease‐risk stratification groups in childhood medulloblastoma using combined clinical, pathologic, and molecular variables. J Clin Oncol 29: 1400 – 1407. | en_US |
dc.identifier.citedreference | Fearon ER. 2011. Molecular genetics of colorectal cancer. Annu Rev Pathol 6: 479 – 507. | en_US |
dc.identifier.citedreference | Galle TS, Juel K, Bulow S. 1999. Causes of death in familial adenomatous polyposis. Scand J Gastroenterol 34: 808 – 812. | en_US |
dc.identifier.citedreference | Garcia‐Rostan G, Camp RL, Herrero A, Carcangiu ML, Rimm DL, Tallini G. 2001. Beta‐catenin dysregulation in thyroid neoplasms: down‐regulation, aberrant nuclear expression, and CTNNB1 exon 3 mutations are markers for aggressive tumor phenotypes and poor prognosis. Am J Pathol 158: 987 – 996. | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.