Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: case report
Language English Country Great Britain, England Media electronic
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
21406108
PubMed Central
PMC3065398
DOI
10.1186/1471-2350-12-38
PII: 1471-2350-12-38
Knihovny.cz E-resources
- MeSH
- Fatal Outcome MeSH
- PTEN Phosphohydrolase genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Meningeal Neoplasms genetics MeSH
- Meningioma genetics MeSH
- Neoplasms, Multiple Primary genetics MeSH
- Thyroid Neoplasms genetics MeSH
- Colonic Neoplasms genetics MeSH
- Ovarian Neoplasms genetics MeSH
- Stomach Neoplasms genetics MeSH
- Codon, Nonsense MeSH
- Frameshift Mutation MeSH
- Sequence Deletion MeSH
- Hamartoma Syndrome, Multiple genetics pathology MeSH
- Germ-Line Mutation * MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- PTEN Phosphohydrolase MeSH
- Codon, Nonsense MeSH
- PTEN protein, human MeSH Browser
BACKGROUND: Cowden syndrome (CS) is a cancer predisposition syndrome associated with increased risk of breast, thyroid, and endometrial cancers, and is characterized by development of benign mucocutaneous lesions. CASE PRESENTATION: Here we report on a 58-year-old woman with multiple primary malignancies and subtle mucocutaneous lesions such as small polyps and wart-like papulas. Over a period of 23 years, she developed various malignant neoplasms including thyroid, ovarian, stomach, and colon carcinomas, and a benign meningioma. Direct sequencing analysis of the PTEN gene revealed a novel germline mutation (c.438delT, p.Leu146X). CONCLUSION: This case demonstrates that Cowden syndrome is a multi-system disease that can result in the development of multiple malignant and benign tumors.
See more in PubMed
Lloyd KM, Dennis M. Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med. 1963;58:136–142. PubMed
Liaw D, Marsh DJ, Li J, Dahia PL, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M. et al.Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet. 1997;16:64–67. doi: 10.1038/ng0597-64. PubMed DOI
Eng C. PTEN: one gene, many syndromes. Hum Mutat. 2003;22:183–198. doi: 10.1002/humu.10257. PubMed DOI
Tamura M, Gu J, Matsumoto K, Aota S, Parsons R, Yamada KM. Inhibition of cell migration, spreading, and focal adhesions by tumor suppressor PTEN. Science. 1998;280:1614–1617. doi: 10.1126/science.280.5369.1614. PubMed DOI
Tamura M, Gu J, Danen EH, Takino T, Miyamoto S, Yamada KM. PTEN interactions with focal adhesion kinase and suppression of the extracellular matrix-dependent phosphatidylinositol 3-kinase/Akt cell survival pathway. J Biol Chem. 1999;274:20693–20703. doi: 10.1074/jbc.274.29.20693. PubMed DOI
Nelen MR, van Staveren WC, Peeters EA, Hassel MB, Gorlin RJ, Hamm H, Lindboe CF, Fryns JP, Sijmons RH, Woods DG. et al.Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet. 1997;6:1383–1387. doi: 10.1093/hmg/6.8.1383. PubMed DOI
Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet. 2000;37:828–830. doi: 10.1136/jmg.37.11.828. PubMed DOI PMC
Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF. et al.Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet. 1996;13:114–116. doi: 10.1038/ng0596-114. PubMed DOI
Starink TM, van der Veen JP, Arwert F, de Waal LP, de Lange GG, Gille JJ, Eriksson AW. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet. 1986;29:222–233. doi: 10.1111/j.1399-0004.1986.tb00816.x. PubMed DOI
Waite KA, Eng C. Protean PTEN: form and function. Am J Hum Genet. 2002;70:829–844. doi: 10.1086/340026. PubMed DOI PMC
Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J. et al.Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet. 2003;73:404–411. doi: 10.1086/377109. PubMed DOI PMC
Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboue B, Lin AY. et al.Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet. 1998;7:507–515. doi: 10.1093/hmg/7.3.507. PubMed DOI
Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet. 2004;41:323–326. doi: 10.1136/jmg.2004.018036. PubMed DOI PMC
Cho MY, Kim HS, Eng C, Kim DS, Kang SJ, Eom M, Yi SY, Bronner MP. First report of ovarian dysgerminoma in Cowden syndrome with germline PTEN mutation and PTEN-related 10q loss of tumor heterozygosity. Am J Surg Pathol. 2008;32:1258–1264. doi: 10.1097/PAS.0b013e31816be8b7. PubMed DOI
Gustafson S, Zbuk KM, Scacheri C, Eng C. Cowden syndrome. Semin Oncol. 2007;34:428–434. doi: 10.1053/j.seminoncol.2007.07.009. PubMed DOI
Lok C, Viseux V, Avril MF, Richard MA, Gondry-Jouet C, Deramond H, Desfossez-Tribout C, Courtade S, Delaunay M, Piette F. et al.Brain magnetic resonance imaging in patients with Cowden syndrome. Medicine (Baltimore) 2005;84:129–136. doi: 10.1097/01.md.0000158792.24888.d2. PubMed DOI
Lyons CJ, Wilson CB, Horton JC. Association between meningioma and Cowden's disease. Neurology. 1993;43:1436–1437. PubMed
Rademaker J, Kim YJ, Leibecke T, Raman SS, Voit C. Cowden disease: CT findings in three patients. Abdom Imaging. 2005;30:204–207. doi: 10.1007/s00261-004-0250-z. PubMed DOI
Rimbau J, Isamat F. Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease) J Neurooncol. 1994;18:191–197. doi: 10.1007/BF01328953. PubMed DOI
Chen YM, Ott DJ, Wu WC, Gelfand DW. Cowden's disease: a case report and literature review. Gastrointest Radiol. 1987;12:325–329. doi: 10.1007/BF01885173. PubMed DOI
Chilovi F, Zancanella L, Perino F, Wallnoefer W, Vigl EE, Colombetti V, Dobrilla G. Cowden's disease with gastrointestinal polyposis. Gastrointest Endosc. 1990;36:323–324. doi: 10.1016/S0016-5107(90)71048-6. PubMed DOI
Marra G, Armelao F, Vecchio FM, Percesepe A, Anti M. Cowden's disease with extensive gastrointestinal polyposis. J Clin Gastroenterol. 1994;18:42–47. doi: 10.1097/00004836-199401000-00011. PubMed DOI
Salem OS, Steck WD. Cowden's disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature. J Am Acad Dermatol. 1983;8:686–696. doi: 10.1016/S0190-9622(83)70081-2. PubMed DOI
Sawada T, Hamano N, Satoh H, Okada T, Takeda Y, Mabuchi H. Mutation analysis of the PTEN/MMAC1 gene in Japanese patients with Cowden disease. Jpn J Cancer Res. 2000;91:700–705. PubMed PMC
Gorensek M, Matko I, Skralovnik A, Rode M, Satler J, Jutersek A. Disseminated hereditary gastrointestinal polyposis with orocutaneous hamartomatosis (Cowden's disease) Endoscopy. 1984;16:59–63. doi: 10.1055/s-2007-1018534. PubMed DOI
Hamby LS, Lee EY, Schwartz RW. Parathyroid adenoma and gastric carcinoma as manifestations of Cowden's disease. Surgery. 1995;118:115–117. doi: 10.1016/S0039-6060(05)80018-2. PubMed DOI
Taylor AJ, Dodds WJ, Stewart ET. Alimentary tract lesions in Cowden's disease. Br J Radiol. 1989;62:890–892. doi: 10.1259/0007-1285-62-742-890. PubMed DOI
Bosserhoff AK, Grussendorf-Conen EI, Rubben A, Rudnik-Schoneborn S, Zerres K, Buettner R, Merkelbach-Bruse S. Multiple colon carcinomas in a patient with Cowden syndrome. Int J Mol Med. 2006;18:643–647. PubMed
