Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome

Genes Chromosomes and Cancer

Volumn 21, Issue 2, 1998, Pages 113-118

  Tsuchiya, Karen D ^a   Wiesner, Georgia ^a   Cassidy, Suzanne B ^a   Limwongse, Chanin ^a   Boyle, John T ^a   Schwartz, Stuart ^a,b  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Center for Human Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 10Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; COWDEN SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROINTESTINAL BIOPSY; GASTROINTESTINAL ENDOSCOPY; GASTROINTESTINAL POLYPOSIS; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE; YEAST ARTIFICIAL CHROMOSOME;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, ARTIFICIAL, YEAST; CHROMOSOMES, HUMAN, PAIR 10; GENES, TUMOR SUPPRESSOR; GERM-LINE MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTESTINAL POLYPS; KARYOTYPING; MALE;

EID: 0031914727     PISSN: 10452257     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-2264(199802)21:2<113::AID-GCC6>3.0.CO;2-3     Document Type: Article

References (36)

1. Albrecht S, Haber RM, Goodman JC, Duvic M (1991) Cowden syndrome and Lhermitte Duclos disease. Cancer 79:869-876.
2. Brownstein MH, Mehregan AH, Bikowski JB, Lupulescu A, Patterson JC (1979) The dermatopathology of Cowden's syndrome. Br J Dermatol 100:667-673.
3. Christian CL, Fleisher DR, Feldman EJ, Pepkowitz SH, Jafolla AK, DiLiberti JH, Graham JM Jr (1991) Lipid storage myopathy associated with Ruvalcaba-Myhre-Smith syndrome: Treatment with carnitine. Clin Res 39:64A.
4. DiLiberti JH, Weleber RG, Budden S (1983) Ruvalcaba-Myhre-Smith syndrome: A case with probable autosomal-dominant inneritance and additional manifestations. Am J Med Genet 15:491-495.
5. DiLibetti JH, D'Agostino AN, Ruvalcaba RHA, Shimshock JR (1984) A new lipid storage myopathy observed in individuals with Ruvalcaba-Myhre-Smith syndrome. Am J Med Genet 18:163-167.
6. Eng C, Murday V, Seal S, Mohammed S, Hodgson SV, Chaudary MA, Fentiman IS, Ponder BAJ, Eeles RA (1994) Cowden syndrome and Lhermitte-Duclos disease in a family: A single genetic syndrome with pleiotropy? J Med Genet 31:458-461.
7. Fults D, Pedone CA, Thomas GA, White R (1990) Allelotype of human malignant astrocytoma. Cancer Res 50:5784-5789.
8. Gentry WC, Eskritt NR, Gorlin RJ (1974) Multiple hamartoma syndrome (Cowden disease). Arch Dermatol 109:521-526.
9. Giardiello FM, Hamilton SR, Kern SE, Offerhaus JGA, Green PA, Celano P, Krush AJ, Booker SV (1991) Colorectal neoplasia in juvenile polyposis or juvenile polyps. Arch Dis Child 66:971-975.
10. Gorlin RJ, Cohen MM, Levin LS (1990) Hamartoneoplastic syndromes. In Syndromes of the Head and Neck, Third Ed. New York: Oxford University Press, pp 336-338, 357-361.
11. Gorlin RJ, Cohen MM Jr, Condon LM, Burke BA (1992) Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 44:307-314.
12. Gray IC, Phillips SMA, Lee SJ, Neoptolemos JP, Weissenbach J, Spurr NK (1995) Loss of the chromosomal region 10q23-25 in prostate cancer. Cancer Res 55:4800-4803.
13. Haggitt RC, Reid BJ (1986) Hereditary gastrointestinal polyposis syndromes. Am J Surg Pathol 10:871-887.
14. Ittmann M (1996) Allelic loss on chromosome 10 in prostate adenocarcinoma. Cancer Res 56:2143-2147.
15. Jacoby RF, Schlack S, Cole CE, Skarbek M, Harris C, Meisner LF (1997) A juvenile polyposis tumor suppressor locus at 10q22 is deleted from nonepithelial cells in the lamina propria. Gastroenterology 112:1398-1403.
16. Jass JR, Williams CB, Bussey HJR, Morson BC (1988) Juvenile polyposis: A precancerous condition. Histopathology 13:619-630.
17. Legius E, Marchuk DA, Collins FS, Glover TW (1993) Somatic deletion of the neurofibromatosis type 1 gene in a neurotibrosarcoma supports a tumour suppressor gene hypothesis. Nature Genet 3:122-126.
18. Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang SI, Puc J, Miliaresis C, Rodgers L, McCombie R, Bigner SH, Giovanella BC, Ittmann M, Tycko B, Hibshoosh H, Wigler MH, Parsons R (1997) PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 275:1943-1947.
19. Liaw D, Marsh DJ, Li J, Dahia PLM, 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. Nature Genet 16:64-67.
20. Lloyd KM, Dennis M (1963) Cowden's disease: A possible new symptom complex with multiple system involvement. Ann Intern Med 58:136-142.
21. 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. Nature Genet 16:333-334.
22. Morita R, Saito S, Ishikawa J, Ogawa O, Yoshida O, Yamakawa K, Nakamura Y (1991) Common regions of deletion on chromosomes 5q, 6q, and 10q in renal cell carcinoma. Cancer Res 51:5817-5820.
23. Nelen MR, Padberg GW, Peeters EAJ, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MMM, Easton DF, Eeles RA, Hodgson S, Mulvihill JJ, Murday VA, Tucker MA, Mariman ECM, Starink TM, Ponder BAJ, Ropers HH, Kremer H, Longy M, Eng C (1996) Localization of the gene for Cowden disease to chromosome 10q22-23. Nature Genet 13:114-116.
24. Nelen MR, van Staveren WCG, Peeters EAJ, Hassel MB, Gorlin RJ, Hamm H, Lindboe CF, Fryns J-P, Sijmons RH, Woods DG, Mariman ECM, Padberg GW, Kremer H (1997) Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 6:1383-1387.
25. Padberg GW, Schot JDL, Vielvoyc GJ, Bots GThAM, de Beer FC (1991) Lhermitte-Duclos disease and Cowden disease: A single phakomatosis. Ann Neurol 29:517-523.
26. Peiffer SL, Herzog TJ, Tribune DJ, Mutch DG, Gersell DJ, Goodfellow PJ (1995) Allelic loss of sequences from the long arm of chromosome 10 and replication errors in endometrial cancers. Cancer Res 55:1922-1926.
27. Pinkel D, Straume T, Gray JH (1986) Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83:2934-2938.
28. Rahseed BK, Fuller GN, Friedman AJ, Bigner DD, Bigner SH (1992) Loss of heterozygosity for 10q loci in human gliomas. Genes Chromosomes Cancer 5:75-82.
29. Riggins GJ, Hamilton SR, Kinzler KW, Vogelstein B (1997) Normal PTEN gene in juvenile polyposis. NOGO 1:1.
30. Shen MH, Harper PS, Upadhyaya M (1996) Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet 33:2-17.
31. Starink TM, van der Veen JPW, Arwert F, de Waal LP, de Lange GG, Gille JJP, Eriksson AW (1986) The Cowden syndrome: A clinical and genetic study in 21 patients. Clin Genet 29:222-233.
32. Steck PA, Pershouse MA, Jasser SA, Yung WKA, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DHF, Tavtigian SV (1997) Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.2 that is mutated in multiple advanced cancers. Nature Genet 15:356-362.
33. Trybus TM, Burgess AC, Wojno KJ, Glover TW, Macoska JA (1996) Distinct areas of allelic loss on chromosomal regions 10p and 10q in human prostate cancer. Cancer Res 56:2263-2267.
34. Vinchon M, Blond S, Lejeune JP, Krivosik I, Fossati P, Assaker R, Christiaens JL (1994) Association of Lhermitte-Duclos and Cowden disease: Report of a new case and review of the literature. J Neurol Neurosurg Psychiatry 57:699-704.
35. Xu W, Mulligan M, Ponder BAJ (1992) Loss of NF1 alleles in phaeochromocytomas from patients with type 1 neurofibromatosis. Genes Chromosomes Cancer 4:337-342.
36. Yunis J (1976) High resolution of human chromosomes. Science 191:1268-1270.