Bannayan-Riley-Ruvalcaba syndrome: Spectrum of intestinal pathology including juvenile polyps

Pediatric and Developmental Pathology

Volumn 3, Issue 2, 2000, Pages 155-161

  Lowichik, Amy ^a   White, Frances V ^b   Timmons, Charles F ^c   Weinberg, Arthur G ^c   Gunasekaran, Thirumazhisai S ^d   Nathan, Kumar ^d,e   Coffin, Cheryl M ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^d Lutheran General Children's Hospital   (United States)

^e LOYOLA UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Atypical polyps; Bannayan Riley Ruvalcaba syndrome; Ectopic ganglion cells; Juvenile polyposis

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COLON POLYP; DUODENUM BIOPSY; ENTEROPATHY; FEMALE; GASTROINTESTINAL BIOPSY; HISTOLOGY; HUMAN; HUMAN TISSUE; INFANT; JUVENILE POLYP; LAMINA PROPRIA; MALE; NERVE CELL; PRESCHOOL CHILD; PRIORITY JOURNAL; RECTUM POLYP; SCHOOL CHILD;

ADENOMATOUS POLYPOSIS COLI; CHORISTOMA; DIAGNOSIS, DIFFERENTIAL; FEMALE; GANGLIA; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; INFANT; INTESTINAL DISEASES; INTESTINAL NEOPLASMS; MALE; SYNDROME;

EID: 0033997396     PISSN: 10935266     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100240050019     Document Type: Article

References (27)

1. Ruvalcaba RHA, Myhre S, Smith DW. Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. Clin Genet 1980;18:413-416.
2. DiLiberti JH, Weleber RG, Budden S. Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations. Am J Med Genet 1983;15:491-495.
3. Dvir M, Beer S, Aladjem M. Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopap-illedema. Pediatrics 1988;81:287-290.
4. Gorlin RJ, Cohen MM Jr, Condon LM, Burke BA. Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 1992;44:307-314.
5. Cohen MM Jr. Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity. Am J Med Genet 1990;35:291.
6. Jones KL. Smith's Recognizable Patterns of Human Malformation, 5th ed. WB Saunders, Philadelphia, 1997;154, 522-523.
7. Fargnoli MC, Orlow SJ, Semel-Concepcion J, Bolognia JL. Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. Arch Dermatol 1996;132:1214-1218.
8. Arch EM, Goodman BK, Van Wesep RA, et al. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Am J Med Genet 1997;71:489-493.
9. Burt RW, Samowitz WS. The adenomatous polyp and the hereditary polyposis syndromes. Gastroenterol Clin North Am 1988;17:657-678.
10. Luk GD. Diagnosis and therapy of hereditary polyposis syndromes. Gastroenterologist 1995;3:153-167.
11. Carethers JM, Furnari FB, Zigman AF, et al. Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. Cancer Res 1998;58:2724-2726.
12. Marsh DJ, Dahia PLM, Zheng Z, et al. Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet 1997;16:333.
13. Zigman AF, Lavine JE, Jones MC, Boland CR, Carethers JM. Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. Gastroenterology 1997; 113:1433-1437.
14. Nelen MR, Padberg GW, Peeters EAJ, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 1996;13:114-116.
15. Haggitt RC, Reid BJ. Hereditary gastrointestinal polyposis syndromes. Am J Surg Pathol 1986;10:871-887.
16. Passarge E, Stevenson RE. Small and large intestines. In: Stevenson RE, Hall JG, Goodman RM, eds. Human Malformations and Related Anomalies, Vol II. New York: Oxford University Press, 1993;492.
17. Finan MC, Ray MK. Gastrointestinal polyposis syndromes. Dermatol Clin 1989;7:419-434.
18. Mendelsohn G, Diamond MP. Familial ganglioneumatous polyposis of the large bowel. Am J Surg Pathol 1984;8:515-520.
19. Weidner N, Flanders DJ, Mitros FA. Mucosal ganglioneuromatosis associated with multiple colonic polyps. Am J Surg Pathol 1984;8:779-786.
20. Coffin CM, Pappin AL. Polyps and neoplasms of the gastrointestinal tract in childhood and adolescence. In: Dahms BB, Qualman SJ, eds. Perspectives in Pediatric Pathology, Vol 20: Gastrointestinal Diseases. New York: Karger, 1997;127-171.
21. Jass JR, Williams CB, Bussey HJR, Morson BC. Juvenile polyposis - a precancerous condition. Histopathology 1988; 13:619-630.
22. Marra G, Armelao F, Vecchio FM, Percesepe A, Anti M. Cowden's disease with extensive gastrointestinal polyposis. J Clin Gastroenterol 1994;18:42-47.
23. Rustgi AK, Hereditary gastrointestinal polyposis and non-polyposis syndromes. N Engl J Med 1994;331:1694-1702.
24. Hover AR, Cawthern T, McDanial W. Cowden disease: a hereditary polyposis syndrome diagnosable by mucocutaneous inspection. J Clin Gastroenterol 1986;8:576-579.
25. Gorenšek M, Matko I, Skralovnik A, Rode M, Satler J, Juteršek A. Disseminated hereditary gastrointestinal polyposis with orocutaneous hamartomatosis (Cowden's disease). Endoscopy 1984;16:59-63.
26. Mulvihill JJ, McKeen EA. Discussion: genetics of multiple primary tumors, a clinical etiologic approach illustrated by three patients. Cancer 1977;40:1867-1871.
27. Burnett JW, Goldner R, Calton GJ. Cowden disease: report of two additional cases. Br J Dermatol 1975;93:329-336.