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

Japanese Journal of Clinical Oncology

Volumn 39, Issue 12, 2009, Pages 837-846

  Hosogi, Hisahiro ^a   Nagayama, Satoshi ^a   Kanamoto, Naotetsu ^a   Yoshizawa, Akihiko ^b   Suzuki, Takashi ^c   Nakao, Kazuwa ^a   Sakai, Yoshiharu ^a  

^a KYOTO UNIVERSITY   (Japan)

^b KYOTO UNIVERSITY HOSPITAL   (Japan)

^c TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Adrenocortical adenoma; APC; Cushing's syndrome

Indexed keywords

ALDOSTERONE; APC PROTEIN; DEXAMETHASONE; FLUOROURACIL; FOLINIC ACID; HYDROCORTISONE; OXALIPLATIN; TESTOSTERONE;

ABDOMINAL DISTENSION; ADENOMATOUS POLYP; ADRENAL CORTEX ADENOMA; ADULT; ARTICLE; ASCITES; ASPIRATION BIOPSY; CANCER CHEMOTHERAPY; CANCER RECURRENCE; CASE REPORT; CLINICAL FEATURE; COLON CANCER; COLON RESECTION; COLONOSCOPY; COLORECTAL ADENOMA; COMPUTER ASSISTED TOMOGRAPHY; CUSHING SYNDROME; CYTODIAGNOSIS; FAMILY HISTORY; FEMALE; GENE INACTIVATION; GENE MUTATION; HORMONE RELEASE; HUMAN; HYDROCORTISONE RELEASE; OSTEOMA; PLEURA EFFUSION; POSITRON EMISSION TOMOGRAPHY; SUCTION;

ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; ADRENOCORTICAL ADENOMA; FEMALE; GENES, APC; HUMANS; MUTATION;

EID: 70849123022     PISSN: 03682811     EISSN: 14653621     Source Type: Journal    
DOI: 10.1093/jjco/hyp093     Document Type: Article

References (23)

1. Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J. Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate. Hum Mutat 1994;3:121-5.
2. Smith TG, Clark SK, Katz DE, Reznek RH, Phillips RK. Adrenal masses are associated with familial adenomatous polyposis. Dis Colon Rectum 2000;43:1739-42.
3. Ferrández A, Pho L, Solomon C, Samowitz WS, Kuwada SK, Knecht TP, et al. An evidence-based, multidisciplinary approach to the clinical considerations, management, and surveillance of adrenal lesions in familial adenomatous polyposis: Report of three cases. Dis Colon Rectum 2006;49:1781-90.
4. Marchesa P, Fazio VW, Church JM, McGannon E. Adrenal masses in patients with familial adenomatous polyposis. Dis Colon Rectum 1997;40:1023-8.
5. Beuschlein F, Reincke M, Königer M, D'Orazio D, Dobbie Z, Rump LC. Cortisol producing adrenal adenoma - a new manifestation of Gardner's syndrome. Endocr Res 2000;26:783-90.
6. Esteller M, Sparks A, Toyota M, Sanchez-Cespedes M, Capella G, Peinado MA, et al. Analysis of adenomatous polyposis coli promoter hypermethylation in human cancer. Cancer Res 2000;60:4366-71.
7. Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990;61:759-67.
8. Nagase H, Miyoshi Y, Horii A, Aoki T, Ogawa M, Utsunomiya J, et al. Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res 1992;52:4055-7.
9. Nieuwenhuis MH, Vasen HF. Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature. Crit Rev Oncol Hematol 2007;61:153-61.
10. Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M, et al. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 2001;48:515-21.
11. Lamlum H, Ilyas M, Rowan A, Clark S, Johnson V, Bell J, et al. The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: A new facet to Knudson's 'two-hit' hypothesis. Nat Med 1999;5:1071-5.
12. Goss KH, Groden J. Biology of the adenomatous polyposis coli tumor suppressor. J Clin Oncol 2000;18:1967-79.
13. Powell SM, Zilz N, Beazer-Barclay Y, Bryan TM, Hamilton SR, Thibodeau SN, et al. APC mutations occur early during colorectal tumorigenesis. Nature 1992;359:235-7.
14. Albuquerque C, Breukel C, van der Luijt R, Fidalgo P, Lage P, Slors FJ, et al. The 'just-right' signaling model: APC somatic mutations are selected based on a speci.c level of activation of the beta-catenin signaling cascade. Hum Mol Genet 2002;11:1549-60.
15. Nagel R, le Sage C, Diosdado B, van der Waal M, Oude Vrielink JA, Bolijn A, et al. Regulation of the adenomatous polyposis coli gene by the miR-135 family in colorectal cancer. Cancer Res 2008;68:5795-802.
16. Bläker H, Scholten M, Sutter C, Otto HF, Penzel R. Somatic mutations in familial adenomatous polyps. Nuclear translocation of beta-catenin requires more than biallelic APC inactivation. Am J Clin Pathol 2003;120:418-23.
17. Kobayashi M, Honma T, Matsuda Y, Suzuki Y, Narisawa R, Ajioka Y, et al. Nuclear translocation of beta-catenin in colorectal cancer. Br J Cancer 2000;82:1689-93.
18. Stratakis CA. Genetics of adrenocortical tumors: Gatekeepers, landscapers and conductors in symphony. Trends Endocrinol Metab 2003;14:404-10.
19. Wakatsuki S, Sasano H, Matsui T, Nagashima K, Toyota T, Horii A. 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 1998;29:302-6.
20. Tissier F, Cavard C, Groussin L, Perlemoine K, Fumey G, Hagneré AM, et al. Mutations of beta-catenin in adrenocortical tumors: Activation of the Wnt signaling pathway is a frequent event in both benign and malignant adrenocortical tumors. Cancer Res 2005;65:7622-7.
21. Tadjine M, Lampron A, Ouadi L, Bourdeau I. Frequent mutations of beta-catenin gene in sporadic secreting adrenocortical adenomas. Clin Endocrinol 2008;68:264-70.
22. Suzuki T, Sasano H, Sawai T, Tsunoda K, Nisikawa T, Abe K, et al. Small adrenocortical tumors without apparent clinical endocrine abnormalities. Immunolocalization of steroidogenic enzymes. Pathol Res Pract 1992;188:883-9.
23. Bennett RL, Steinhaus KA, Uhrich SB, O'Sullivan CK, Resta RG, Lochner-Doyle D, et al. Recommendations for standardized human pedigree nomenclature. Am J Hum Genet 1995;56:745-52.