Granular cell tumor in a PHTS patient with a novel germline PTEN mutation [1]

American Journal of Medical Genetics

Volumn 120 A, Issue 2, 2003, Pages 286-288

  Marchese, Cristiana ^b   Montera, Mariapina ^a   Torrini, Margherita ^a   Goldoni, Francesca ^a   Mareni, Cristina ^a   Forni, Marco ^c   Locatelli, Luigi ^d  

^a UNIVERSITY OF GENOA   (Italy)

^b MAURIZIANO HOSPITAL   (Italy)

^c OIRM S Anna   (Italy)

^d Ospedale Evangelico Valdese   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ADULT; CASE REPORT; CATARACT; CHORIORETINITIS; COLON POLYP; FAMILIAL CANCER; GENE MUTATION; GRANULAR CELL TUMOR; HAMARTOMA; HEMANGIOFIBROMA; HISTOPATHOLOGY; HUMAN; LETTER; MALE; PRIORITY JOURNAL; PTEN HAMARTOMA TUMOR SYNDROME; THYROID ADENOMA;

ADULT; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; GENES, TUMOR SUPPRESSOR; GERM-LINE MUTATION; GRANULAR CELL TUMOR; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MALE; PHOSPHORIC MONOESTER HYDROLASES; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PTEN PHOSPHOHYDROLASE; TUMOR SUPPRESSOR PROTEINS;

EID: 0042322868     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (14)

1. Den Dunnen JT, Antonorakis E. 2001. Nomenclature for the description of human sequence variation. Hum Genet 109:121-124.
2. Eng C. 2000. Will the real Cowden syndrome please stand up: Revised diagnostic criteria. J Med Genet 37:828-830.
3. Eng C, Ji HL. 1998. Molecular classification of the inherited hamartoma polyposis syndromes: Clearing the muddied waters. Am J Hum Genet 62:1020-1022.
4. Kanabe S, Watanabe I, Lotuaca L. 1978. Multiple granular cell tumors of the ascending colon: Microscopic study. Dis Colon Rectum 21:322-328.
5. Liaw D, Marsh DJ, Li J, Dahia PL, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C, Parsons R. 1997. Germline mutations of the PTEN gene in Cowden disease, an inherited breast, and thyroid cancer syndrome. Nat Genet 16:64-67.
6. Marsh DJ, Dahia PLM, Zheng Z, Liaw D, Parsons R, Gorlin RJ, Eng C. 1997. Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet 16:333-334.
7. Marsh DJ, Kum JB, Lunetta KL, Bennet MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dazouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KA, Parisi M, Pober B, Romano C, Tolmie JL, Trembath R, Winter RM, Zackai EH, Zori RT, Weng LP, Dahia PLM, Eng C. 1999. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 8:1461-1472.
8. Martin RW, Nelder KH, Boyd AS, Coates PW. 1990. Multiple cutaneous granular cell tumors and neurofibromatosis in childhood. Arch Dermatol 126:1051-1056.
9. Melo CR, Melo IS, Schmitt FC, Fagundes R, Amendola D. 1993. Multicentric granular cell tumor of the colon. Report of a patient with 52 tumors. Am J Gastroenterol 88:1785-1787.
10. Rickert CH, Paulus W. 2002. Genetic characterization of granular cell tumors. Acta Neuropathol 103:309-312.
11. Risinger JI, Hayes AK, Berchuck A, Barret JC. 1997. PTEN-MMAC1 mutations in endometrial cancer. Cancer Res 57:4736-4738.
12. Scheitauer BW, Woodruff JM, Erlandson RA. 1999. Atlas of tumor pathology. Tumors of the peripheral nervous system. AFIP Washington DC 248-259.
13. Stella A, Montera M, Resta N, Marchese C, Susca F, Gentile M, Romio L, Pilia S, Prete F, Mareni C, Guanti G. 1994. Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients. Hum Mol Genet 3:1687-1688.
14. Stratakis CA, Kirschner LS, Taymans SE, Tomlinson IPM, Marsh DJ, Torpy DJ, Giatzakis C, Eccles DM, Theaker J, Houlston RS, Blouin JF, Antonorakis SE, Basson CT, Eng C, Carney JA. 1998. Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci. J Clin Endocrinol Metab 83:2972-2976.