Gastrointestinal Polyposis in Childhood: Clinicopathologic and Genetic Features

Pediatric and Developmental Pathology

Volumn 6, Issue 5, 2003, Pages 371-391

  Lowichik, Amy ^a,b   Jackson, W Daniel ^a,b   Coffin, Cheryl M ^a,b  

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

^b PRIMARY CHILDREN'S MEDICAL CENTER   (United States)

Author keywords

Adenomatous polyposis; Juvenile polyposis; Pathology; Peutz Jeghers; Polyposis; Polyps

Indexed keywords

ADENOMATOUS POLYP; BASAL CELL NEVUS SYNDROME; CANCER SCREENING; CHILD; CLINICAL FEATURE; COLON CANCER; COLONOSCOPY; ENDOSCOPY; GASTROINTESTINAL POLYPOSIS; GENETIC ANALYSIS; HISTIOCYTOSIS; HISTOPATHOLOGY; HUMAN; JUVENILE POLYP; LANGERHANS CELL; LYMPHOID HYPERPLASIA; PEUTZ JEGHERS SYNDROME; PRIORITY JOURNAL; PROGNOSIS; REVIEW; STOMACH POLYP;

ADENOMATOUS POLYPOSIS COLI; CHILD; CHILD, PRESCHOOL; COLONIC POLYPS; COLORECTAL NEOPLASMS; GENES, APC; HUMANS; INFANT; MUTATION; PEUTZ-JEGHERS SYNDROME; SYNDROME;

EID: 0142249981     PISSN: 10935266     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10024-002-0701-x     Document Type: Review

References (171)

1. Online Mendelian Inheritance in Man, OMIM (TM). Baltimore, MD: McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, and Bethesda, MD: National Center for Biotechnology Information, National Library of Medicine, 2000; World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
2. Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number: {174900} {1/12/2002}: World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
3. Burt RW, Jacobi RF. Polyposis syndromes In: Yamada T, editor. Textbook of Gastroenterology. Philadelphia: 4th edition, Lippincott-Williams and Wilkins, 2003;1914-1939.
4. Hoffenberg EJ, Sauaia A, Maltzman T, Knoll K, Ahnen DJ. Symptomatic colonic polyps in childhood: not so benign. J. Pediatr. Gastroenterol. Nutr. 1999;28:175-181.
5. Hyer W, Beveridge I, Domizio P, Phillips R. Clinical management and genetics of gastrointestinal polyps in children. J. Pediatr. Gastroenterol. Nutr. 2000;31:469-479.
6. Corredor J, Wambach J, Barnard J. Gastrointestinal polyps in children: advances in molecular genetics, diagnosis, and management. J. Pediatr. 2001;138:621-628.
7. Waite KA, Eng C. Protean PTEN: form and function. Am. J. Hum. Genet. 2002;70:829-844.
8. Scharf GM, Becker JH, Laage NJ. Juvenile gastrointestinal polyposis or the infantile Cronkhite-Canada syndrome. J. Pediatr. Surg. 1986;21:953-954.
9. Nicholls S, Smith V, Davies R, Doig C, Thomas A, Miller V. Diffuse juvenile non-adenomatous polyposis: a rare cause of severe hypoalbuminaemia in childhood. Acta. Paediatr. 1995;84:1447-1448.
10. Watanabe A, Nagashima H, Motoi M, Ogawa K. Familial juvenile polyposis of the stomach. Gastroenterology 1979;77:148-151.
11. Desai DC, Murday V, Phillips RK, Neale KF, Milla P, Hodgson SV. A survey of phenotypic features in juvenile, polyposis. J. Med. Genet. 1998;35:476-481.
12. Howe JR, Ringold JC, Hughes JH, Summers RW. Direct genetic testing for SMAD-4 mutations in patients at risk for juvenile polyposis. Surgery 1999;126:162-170.
13. Friedl W, Kruse R, Uhlhaas S. Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients. Genes Chromosomes Cancer 1999;25:403-406.
14. Zhou XP, Woodford-Richens K, Lehtonen R. Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am. J. Hum. Genet. 2001;69:704-711.
15. Roth S, Sistonen P, Salovaara R. SMAD genes in juvenile polyposis. Genes Chromosomes Cancer 1999;26:54-61.
16. Howe JR, Bair JL, Sayed MG. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat. Genet. 2001;28:184-187.
17. Jacoby RF, Schlack S, Cole CE, Skarbek M, Harris C, Meisner LF. A juvenile polyposis tumor suppressor locus at 10q22 is deleted from nonepithelial cells in the lamina propria. Gastroenterology 1997;112:1398-1403.
18. Woodford-Richens K, Williamson J, Bevan S. Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium. Cancer Res. 2000;60:2477-2482.
19. Marsh DJ, Dahia PL, Zheng Z. Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat. Genet. 1997;16:333-334.
20. Leggett BA, Thomas LR, Knight N, Healey S, Chenevix-Trench G, Searle J. Exclusion of APC and MCC as the gene defect in one family with familial juvenile polyposis. Gastroenterology 1993;105:1313-1316.
21. Wu TT, Rezai B, Rashid A. Genetic alterations and epithelial dysplasia in juvenile polyposis syndrome and sporadic juvenile polyps. Am. J. Pathol. 1997;150:939-947.
22. Cox KL, Frates RC Jr, Wong A, Gandhi G. Hereditary generalized juvenile polyposis associated with pulmonary arteriovenous malformation. Gastroenterology 1980;78:1566-1570.
23. Conte WJ, Rotter JL, Schwartz AG, Congleton JE (1982) "Hereditary generalized juvenile polyposis, arteriovenous malformations and colonic carcinoma (abstract)" Clin. Res. 30:93A
24. Baert AL, Casteels-Van Daele M, Broeckx J, Wijndaele L, Wilms G, Eggermont E. Generalized juvenile polyposis with pulmonary arteriovenous malformations and hypertrophic osteoarthropathy. AJR. Am. J. Roentgenol. 1983;141:661-662.
25. Simpson EL, Dalinka MK. Association of hypertrophic osteoarthropathy with gastrointestinal polyposis. AJR. Am. J. Roentgenol. 1985;144:983-984.
26. Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number {175050} {6/20/1997}: World Wide Web URL: http//www ncbi.nlm.nih.gov/omim/
27. Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number {1534800} {4/19/2001}: World Wide Web URL: http//www ncbi.nlm.nih.gov/omim/
28. Lowichik A, White FV, Timmons CF. Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. Pediatr. Dev. Pathol. 2000;3:155-161.
29. Margh DJ, Kum JB, Lunetta KI. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum. Mol. Genet. 1999;8:1461-1472.
30. Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number: {158350} {4/26/2002}: World Wide Web URL: http//www. ncbi.nlm.nih.gov/omim/
31. Hanssen AM, Fryns JP. Cowden syndrome. J. Med. Genet. 1995;32:117-119.
32. Hanssen AM, Werquin H, Suys E, Fryns JP. Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations. Clin. Genet. 1993;44:281-286.
33. Carethers JM, Furnari FB, Zigman AF. Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. Cancer Res. 1998;58:2724-2726.
34. Arch EM, Goodman BK, Van Wesep RA. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Am. J. Med. Genet. 1997;71:489-493.
35. Marsh DJ, Coulon V, Lunetta KL. 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.
36. Giardiello FM, Hamilton SR. Hereditary mixed polyposis syndrome: a zebra or a horse dressed in pinstripes. Gastroenterology 1997;112:643-645.
37. Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number: {601228} {6/11/1997}: World Wide Web URL: http://www. ncbi.nlm.nih.gov/omim/
38. Whitelaw SC, Murday VA, Tomlinson IP. Clinical and molecular features of the hereditary mixed polyposis syndrome. Gastroenterology 1997;112:327-334.
39. Sachatello CR, Griffen WO Jr. Hereditary polypoid diseases of the gastrointestinal tract: a working classification. Am. J. Surg. 1975;129:198-203.
40. Coffin CM, Dehner LP. What is a juvenile polyp? An analysis based on 21 patients with solitary and multiple polyps. Arch. Pathol. Lab. Med. 1996;120:1032-1038.
41. Coffin CM, Pappin AL. Polyps and neoplasms of the gastrointestinal tract in childhood and adolescence. Perspect. Pediatr. Pathol. 1997;20:127-171.
42. Bussey HJ, Veale AM, Morson BC. Genetics of gastrointestinal polyposis. Gastroenterology 1978;74:1325-1330.
43. Haggitt RC, Reid BJ. Hereditary gastrointestinal polyposis syndromes. Am. J. Surg. Pathol. 1986;10:871-887.
44. Goodman ZD, Yardley JH, Milligan FD. Pathogenesis of colonic polyps in multiple juvenile polyposis: report of a case associated with gastric polyps and carcinoma of the rectum. Cancer 1979;43:1906-1913.
45. Jass JR, Williams CB, Bussey HJ, Morson BC. Juvenile polyposis - a precancerous condition. Histopathology 1988;13:619-630.
46. Grotsky HW, Rickert RR, Smith WD, Newsome JF. Familial juvenile polyposis coli. A clinical and pathologic study of a large kindred. Gastroenterology 1982;82:494-501.
47. Subramony C, Scott-Conner CE, Skelton D, Hall TJ. Familial juvenile polyposis. Study of a kindred: evolution of polyps and relationship to gastrointestinal carcinoma. Am. J. Clin. Pathol. 1994;102:91-97.
48. Mills SE, Fechner RE. Unusual adenomatous polyps in juvenile polyposis coli. Am. J. Surg. Pathol. 1982;6:177-183.
49. Jarvinen H, Franssila KO. Familial juvenile polyposis coli; increased risk of colorectal cancer. Gut 1984;25:792-800.
50. Vaiphei K, Thapa BR. Juvenile polyposis (coli)-high incidence of dysplastic epithelium. J. Pediatr. Surg. 1997;32:1287-1290.
51. Poddar U, Thapa BR, Vaiphei K, Rao KL, Mitra SK, Singh K. Juvenile polyposis in a tropical country. Arch. Dis. Child. 1998;78:264-266.
52. Mendelsohn G, Diamond MP. Familial ganglioneuromatous polyposis of the large bowel. Report of a family with associated juvenile polyposis. Am. J. Surg. Pathol. 1984;8:515-520.
53. Donnelly WH, Sieber WK, Yunis EJ. Polypoid ganglioneurofibromatosis of the large bowel. Arch. Pathol. 1969;87:537-541.
54. Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number: {175100} {5/21/2002}: World Wide Web URL: http://www. ncbi.nlm.nih.gov/omim/
55. Groden J, Thliveris A, Samowitz W. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66:589-600.
56. Enomoto M, Konishi M, Iwama T, Utsunomiya J, Sugihara KI, Miyaki M. The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis. Jpn. J. Clin. Oncol. 2000;30:82-88.
57. Goss KH, Groden J. Biology of the adenomatous polyposis coli tumor suppressor. J. Clin. Oncol. 2000;18:1967-1979.
58. Li G, Tamura K, Yamamoto Y. Molecular and clinical study of familial adenomatous polyposis for genetic testing and management. J. Exp. Clin. Cancer Res. 1999;18:519-529.
59. Winter, H (1996) "Intestinal polyps" In: Walker, W, Durie, P, Hamilton, J, Walker-Smith, J, Watkins, J (editors), Pediatric Gastrointestinal Disease, Mosby, St. Louis, pp 891-907
60. Talbot, IC, Burt, R, Jarvinen, H, Thomas, G (2000) "Familial adenomatous polyposis" In: Hamilton, SR, Aaltonen, LA (editors), Pathology and Genetics of Tumours of the Digestive System, International Agency for Research on Cancer, Lyon, France, pp 120
61. Nash JW, Niemann T, Marsh WL, Frankel WL. To step or not to step: an approach to clinically diagnosed polyps with no initial pathologic finding. Am. J. Clin. Pathol. 2002;117:419-423.
62. Wu ML, Dry SM, Lassman CR. Deeper examination of negative colorectal biopsies. Am. J. Clin. Pathol. 2002;117:424-428.
63. Rustgi AK. Hereditary gastrointestinal polyposis and nonpolyposis syndromes. N. Engl. J. Med. 1994;331:1694-1702.
64. Griffin CA, Lazar S, Hamilton SR. Cytogenetic analysis of intestinal polyps in polyposis syndromes: comparison with sporadic colorectal adenomas. Cancer Genet. Cytogenet. 1993;67:14-20.
65. Distante S, Nasioulas S, Somers GR. Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study. J. Med. Genet. 1996;33:157-160.
66. Domizio P, Talbot IC, Spigelman AD, Williams CB, Phillips RK. Upper gastrointestinal pathology in familial adenomatous polyposis: results from a prospective study of 102 patients. J. Clin. Pathol. 1990;43:738-743.
67. Goedde TA, Rodriguez-Bigas MA, Herrera L, Petrelli NJ. Gastroduodenal polyps in familial adenomatous polyposis. Surg. Oncol. 1992;1:357-361.
68. Seow-Choen F, Ho JM, Wong J, Goh HS. Gross and histological abnormalities of the foregut in familial adenomatous polyposis: a study from a South East Asian Registry. Int. J. Colorectal Dis. 1992;7:177-183.
69. Watanabe H, Enjoji M, Yao T, Ohsato K. Gastric lesions in familial adenomatosis coli: their incidence and histologic analysis. Hum. Pathol. 1978;9:269-283.
70. Bulow S. Familial polyposis coli. Dan. Med. Bull. 1987;34:1-15.
71. Jagelman DG. Extracolonic manifestations of familial polyposis coli. Semin. Surg. Oncol. 1987;3:88-91.
72. Caspari R, Olschwang S, Friedl W. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum. Mol. Genet. 1995;4:337-340.
73. Gardner EJ. A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. Am. J. Hum. Genet. 1951;3:167-176.
74. Gardner EJ, Richards RC. Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am. J. Hum. Genet. 1953;5:139-147.
75. Gardner EJ. Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas, and epidermal cysts. Am. J. Hum. Genet. 1960;14:376-390.
76. Gardner EJ, Stephens FE. Cancer of the lower digestive tract in one family group. Am. J. Hum. Genet. 1950;2:41-48.
77. Diwan AH, Graves ED, King JA, Horenstein MG. Nuchal-type fibroma in two related patients with Gardner's syndrome. Am. J. Surg. Pathol. 2000;24:1563-1567.
78. Wehrli BM, Weiss SW, Coffin CM. Gardner syndrome. Am. J. Surg. Pathol. 2001;25:694-696.
79. Wehrli BM, Weiss SW, Yandow S, Coffin CM. Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion that identifies unsuspected Gardner syndrome and risk for fibromatosis. Am. J. Surg. Pathol. 2001;25:645-651.
80. Oldfield MC. The association of familial polyposis of the colon with multiple sebaceous cysts. Br. J. Surg. 1954;41:534-541.
81. Naylor EW, Gardner EJ, Richards RC. Desmoid tumors and mesenteric fibromatosis in Gardner's syndrome: report of kindred 109. Arch. Surg. 1979;114:1181-1185.
82. Clark SK, Phillips RK. Desmoids in familial adenomatous polyposis. Br. J. Surg. 1996;83:1494-1504.
83. Clark SK, Pack K, Pritchard J, Hodgson SV. Familial adenomatous polyposis presenting with childhood desmoids. Lancet 1997;349:471-472.
84. Clark SK, Smith TG, Katz DE, Reznek RH, Phillips RK. Identification and progression of a desmoid precursor lesion in patients with familial adenomatous polyposis. Br. J. Surg. 1998;85:970-973.
85. Eccles DM, Lunt PW, Wallis Y. An unusually severe phenotype for familial adenomatous polyposis. Arch. Dis. Child. 1997;77:431-435.
86. Gurbuz AK, Giardiello FM, Petersen GM. Desmoid tumours in familial adenomatous polyposis. Gut 1994;35:377-381.
87. Halata MS, Miller J, Stone RK. Gardner syndrome. Early presentation with a desmoid tumor. Discovery of multiple colonic polyps. Clin. Pediatr. (Phila.) 1989;28:538-540.
88. Karakousis CP, Berjian RA, Lopez R, Rao U. Mesenteric fibromatosis in Gardner's syndrome. Arch. Surg. 1978;113:998-1000.
89. Abraham SC, Wu TT. Nasopharyngeal angiofibroma. Hum. Pathol. 2001;32:455.
90. Abraham SC, Montgomery EA, Giardiello FM, Wu TT. Frequent beta-catenin mutations in juvenile nasopharyngeal angiofibromas. Am. J. Pathol. 2001;158:1073-1078.
91. Giardiello FM, Hamilton SR, Krush AJ, Offerhaus JA, Booker SV, Petersen GM. Nasopharyngeal angiofibroma in patients with familial adenomatous polyposis. Gastroenterology 1993;105:1550-1552.
92. Guertl B, Beham A, Zechner R, Stammberger H, Hoefler G. Nasopharyngeal angiofibroma: an APC-gene-associated tumor?. Hum. Pathol. 2000;31:1411-1413.
93. Armstrong SJ, Duncan AW, Mott MG. Rhabdomyosarcoma associated with familial adenomatous polyposis. Pediatr. Radiol. 1991;21:445-446.
94. Bulow S, Sondergaard JO, Witt I, Larsen E, Tetens G. Mandibular osteomas in familial polyposis coli. Dis. Colon Rectum 1984;27:105-108.
95. Chang CH, Piatt ED, Thomas KE, Watne AL. Bone abnormalities in Gardner's syndrome. Am. J. Roentgenol. Radium Ther. Nucl. Med. 1968;103:645-652.
96. Katou F, Motegi K, Baba S. Mandibular lesions in patients with adenomatosis coli. J. Craniomaxillofac. Surg. 1989;17:354-358.
97. Kubo K, Miyatani H, Takenoshita Y. Widespread radiopacity of jaw bones in familial adenomatosis coli. J. Craniomaxillofac. Surg. 1989;17:350-353.
98. Garber JE, Li FP, Kingston JE. Hepatoblastoma and familial adenomatous polyposis. J. Natl. Cancer Inst. 1988;80:1626-1628.
99. Giardiello FM, Petersen GM, Brensinger JD. Hepatoblastoma and APC gene mutation in familial adenomatous polyposis. Gut 1996;39:867-869.
100. Hughes LJ, Michels VV. Risk of hepatoblastoma in familial adenomatous polyposis. Am. J. Med. Genet. 1992;43:1023-1025.
101. Iwama T, Mishima Y. Mortality in young first-degree relatives of patients with familial adenomatous polyposis. Cancer 1994;73:2065-2068.
102. Kingston JE, Herbert A, Draper GJ, Mann JR. Association between hepatoblastoma and polyposis coli. Arch. Dis. Child. 1983;58:959-962.
103. Uzoaru I, Podbielski FJ, Chou P, Raffensperger JG, Gonzalez-Crussi F. Familial adenomatous polyposis coli and clear cell sarcoma of the kidney. Pediatr. Pathol. 1993;13:133-141.
104. Bulow C, Bulow S. Is screening for thyroid carcinoma indicated in familial adenomatous polyposis? The Leeds Castle Polyposis Group. Int. J. Colorectal Dis. 1997;12:240-242.
105. Cetta F, Toti P, Petracci M. Thyroid carcinoma associated with familial adenomatous polyposis. Histopathology 1997;31:231-236.
106. Marchesa P, Fazio VW, Church JM, McGannon E. Adrenal masses in patients with familial adenomatous polyposis. Dis. Colon Rectum 1997;40:1023-1028.
107. Perkins JT, Blackstone MO, Riddell RH. Adenomatous polyposis coli and multiple endocrine neoplasia type 2b. A pathogenetic relationship. Cancer 1985;55:375-381.
108. Cavenee WK. High-grade gliomas with chromosome 1p loss. J. Neurosurg. 2000;92:1080-1081.
109. Paraf F, Jothy S, Van Meir EG. Brain tumor-polyposis syndrome: two genetic diseases?. J. Clin. Oncol. 1997;15:2744-2758.
110. Van Meir EG. "Turcot's syndrome": phenotype of brain tumors, survival and mode of inheritance. Int. J. Cancer 1998;75:162-164.
111. Naylor EW, Lebenthal E. Gardner's syndrome. Recent developments in research and management. Dig. Dis. Sci. 1980;25:945-959.
112. Milsom JW, Ludwig KA, Church JM, Garcia-Ruiz A. Laparoscopic total abdominal colectomy with ileorectal anastomosis for familial adenomatous polyposis. Dis. Colon Rectum 1997;40:675-678.
113. Dunker MS, Bemelman WA, Slors JF, van Duijvendijk P, Gouma DJ. Functional outcome, quality of life, body image, and cosmesis in patients after laparoscopic-assisted and conventional restorative proctocolectomy: a comparative study. Dis. Colon Rectum 2001;44:1800-1807.
114. Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number: {175200} {8/20/2002}: World Wide Web URL: http://www. ncbi.nlm.nih.gov/omim/
115. Howell J, Pringle K, Kirschner B, Burrington JD. Peutz-Jeghers polyps causing colo-colic intussusception in infancy. J. Pediatr. Surg. 1981;16:82-84.
116. Fernandez Seara MJ, Martinez Soto MI, Fernandez Lorenzo JR, Trabazo S, Gamborino E, Forteza Vila J. Peutz-Jeghers syndrome in a neonate. J. Pediatr. 1995;126:965-967.
117. Corley DA, Uyeki TM, Cello JP. Gastrointestinal bleeding and gastric outlet obstruction from Peutz-Jeghers polyposis. Diagnosis and treatment. West J. Med. 1997;166:350-352.
118. Giardiello FM, Brensinger JD, Tersmette AC. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000;119:1447-1453.
119. Gruber SB, Entius MM, Petersen GM. Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res. 1998;58:5267-5270.
120. Fulcheri E, Baracchini P, Pagani A, Lapertosa G, Bussolati G. Significance of the smooth muscle cell component in Peutz-Jeghers and juvenile polyps. Hum. Pathol. 1991;22:1136-1140.
121. Shepherd NA, Bussey HJ, Jass JR. Epithelial misplacement in Peutz-Jeghers polyps. A diagnostic pitfall. Am. J. Surg. Pathol. 1987;11:743-749.
122. Perzin KH, Bridge MF. Adenomatous and carcinomatous changes in hamartomatous polyps of the small intestine (Peutz-Jeghers syndrome): report of a case and review of the literature. Cancer 1982;49:971-983.
123. Narita T, Eto T, Ito T. Peutz-Jeghers syndrome with adenomas and adenocarcinomas in colonic polyps. Am. J. Surg. Pathol. 1987;11:76-81.
124. Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A. Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med. J. 1975;136:71-82.
125. Hizawa K, Iida M, Matsumoto T. Cancer in Peutz-Jeghers syndrome. Cancer 1993;72:2777-2781.
126. Hemminki A, Markie D, Tomlinson I. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 1998;391:184-187.
127. Jenne DE, Reimann H, Nezu J. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat. Genet. 1998;18:38-43.
128. d'Amore ES, Manivel JC, Pettinato G, Niehans GA, Snover DC. Intestinal ganglioneuromatosis: mucosal and transmural types. A clinicopathologic and immunohistochemical study of six cases. Hum. Pathol. 1991;22:276-286.
129. Fenoglio-Preiser CM, Noffsinger AE, Stemmermann GN, Lantz PE, Listrom MB, Rilke FO. Gastrointestinal Pathology, an Atlas and Text. Philadelphia: 2nd edition, Lippincott-Raven, 1998;656, 664-666.
130. Kelly JK, Langevin JM, Price LM, Hershfield NB, Share S, Blustein P. Giant and symptomatic inflammatory polyps of the colon in idiopathic inflammatory bowel disease. Am. J. Surg. Pathol. 1986;10:420-428.
131. Torres C, Antonioli D, Odze RD. Polypoid dysplasia and adenomas in inflammatory bowel disease: a clinical, pathologic, and follow-up study of 89 polyps from 59 patients. Am. J. Surg. Pathol. 1998;22:275-284.
132. Coffin CM, Neilson KA, Ingels S, Frank-Gerszberg R, Dehner LP. Congenital generalized myofibromatosis: a disseminated angiocentric myofibromatosis. Pediatr. Pathol. Lab. Med. 1995;15:571-587.
133. Walts AE, Asch M, Raj C. Solitary lesion of congenital fibromatosis. A rare cause of neonatal intestinal obstruction. Am. J. Surg. Pathol. 1982;6:255-260.
134. Srigley JR, Mancer K. Solitary intestinal fibromatosis with perinatal bowel obstruction. Pediatr. Pathol. 1984;2:249-258.
135. Mecrow IK, Miller V, Lendon M, Doig CM. Mesenteric fibromatosis presenting with ascites in childhood. J. Pediatr. Gastroenterol. Nutr. 1990;11:118-122.
136. Michel M, Ninane J, Claus D, Gosseye S, Wese FX, Moulin D. Major malformations in a case of infantile myofibromatosis. Eur. J. Pediatr. 1990;149:251-252.
137. Chung EB, Enzinger FM. Infantile myofibromatosis. Cancer 1981;48:1807-1818.
138. Mentzel T, Calonje E, Nascimento AG, Fletcher CD. Infantile hemangiopericytoma versus infantile myofibromatosis. Study of a series suggesting a continuous spectrum of infantile myofibroblastic lesions. Am. J. Surg. Pathol. 1994;18:922-930.
139. Coffin CM, Dehner LP. Vascular tumors in children and adolescents: a clinicopathologic study of 228 tumors in 222 patients. Pathol. Annu. 1993;28(Pt 1):97-120.
140. Hammoudi SM, Corkery JJ. Congenital hemangiopericytoma of duodenum. J. Pediatr. Surg. 1985;20:559-560.
141. Quinn FM, Brown S, O'Hara D. Hemangiopericytoma of the stomach in a neonate. J. Pediatr. Surg. 1991;26:101-102.
142. Poplausky MR, Haller JO, Gerson LS. Congenital hemangiopericytoma of the duodenum. Pediatr. Radiol. 1992;22:344-345.
143. Coffin CM, Dehner LP. Fibroblastic-myofibroblastic tumors in children and adolescents: a clinicopathologic study of 108 examples in 103 patients. Pediatr. Pathol. 1991;11:569-588.
144. Allen PW. The fibromatoses: a clinicopathologic classification based on 140 cases. Am. J. Surg. Pathol. 1977;1:255-270.
145. Bar-Maor JA, Shabshin U. Mesenteric fibromatosis. J. Pediatr. Surg. 1993;28:1618-1619.
146. Coffin CM, Watterson J, Priest JR, Dehner LP. Extrapulmonary inflammatory myofibroblastic tumor (inflammatory pseudotumor). A clinicopathologic and immunohistochemical study of 84 cases. Am. J. Surg. Pathol. 1995;19:859-872.
147. Tang TT, Segura AD, Oechler HW. Inflammatory myofibrohistiocytic proliferation simulating sarcoma in children. Cancer 1990;65:1626-1634.
148. Maves CK, Johnson JF, Bove K, Malott RL. Gastric inflammatory pseudotumor in children. Radiology 1989;173:381-383.
149. Kojimahara K, Mukai M, Yamazaki K. Inflammatory pseudotumor of the stomach: report of a highly infiltrative case with electron microscopic and immunohistochemical studies. Acta. Pathol. Jpn. 1993;43:65-70.
150. Day DL, Sane S, Dehner LP. Inflammatory pseudotumor of the mesentery and small intestine. Pediatr. Radiol. 1986;16:210-215.
151. Pettinato G, Manivel JC, De Rosa N, Dehner LP. Inflammatory myofibroblastic tumor (plasma cell granuloma). Clinicopathologic study of 20 cases with immunohistochemical and ultrastructural observations. Am. J. Clin. Pathol. 1990;94:538-546.
152. Meis JM, Enzinger FM. Inflammatory fibrosarcoma of the mesentery and retroperitoneum. A tumor closely simulating inflammatory pseudotumor. Am. J. Surg. Pathol. 1991;15:1146-1156.
153. Weiss SW. Histologic Typing of Soft Tissue Tumors. New York: 2nd edition, Springer-Verlag, 1994.
154. Gonzalez-Crussi F, de Mello DE, Sotelo-Avila C. Omentalmesenteric myxoid hamartomas. Infantile lesions simulating malignant tumors. Am. J. Surg. Pathol. 1983;7:567-578.
155. Shimer GR, Helwig EB. Inflammatory fibroid polyps of the intestine. Am. J. Clin. Pathol. 1984;81:708-714.
156. Anthony PP, Morris DS, Vowles KD. Multiple and recurrent inflammatory fibroid polyps in three generations of a Devon family: a new syndrome. Gut 1984;25:854-862.
157. Allibone RO, Nanson JK, Anthony PP. Multiple and recurrent inflammatory fibroid polyps in a Devon family ('Devon polyposis syndrome'): an update. Gut 1992;33:1004-1005.
158. Hyams JS, Haswell JE, Gerber MA, Berman MM. Colonic ulceration in histiocytosis X. J. Pediatr. Gastroenterol. Nutr. 1985;4:286-290.
159. Iwafuchi M, Watanabe H, Shiratsuka M. Primary benign histiocytosis X of the stomach. A report of a case showing spontaneous remission after 5 1/2 years. Am. J. Surg. Pathol. 1990;14:489-496.
160. Lee RG, Braziel RM, Stenzel P. Gastrointestinal involvement in Langerhans cell histiocytosis (histiocytosis X): diagnosis by rectal biopsy. Mod. Pathol. 1990;3:154-157.
161. Boccon-Gibod LA, Krichen HA, Carlier-Mercier LM, Salaun JF, Fontaine JL, Leverger GR. Digestive tract involvement with exudative enteropathy in Langerhans cell histiocytosis. Pediatr. Pathol. 1992;12:515-524.
162. Wada R, Yagihashi S, Konta R, Ueda T, Izumiyama T. Gastric polyposis caused by multifocal histiocytosis X. Gut 1992;33:994-996.
163. Groisman GM, Rosh JR, Harpaz N. Langerhans cell histiocytosis of the stomach. A cause of granulomatous gastritis and gastric polyposis. Arch. Pathol. Lab. Med. 1994;118:1232-1235.
164. Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number: {109400} {5/21/1997}: World Wide Web URL: http://www. ncbi.nlm.nih.gov/omim/
165. Schwartz RA. Basal-cell-nevus syndrome and gastrointestinal polyposis. N. Engl. J. Med. 1978;299:49.
166. Shimizu H, Shimomura Y, Kobayashi I, Kobayashi S. [A case of basal cell nevus syndrome with gastrointestinal polyposis accompanying the various endocrinological abnormalities]. Nippon Naika Gakkai Zasshi 1987;76:844-848.
167. Atwell JD, Burge D, Wright D. Nodular lymphoid hyperplasia of the intestinal tract in infancy and childhood. J. Pediatr. Surg. 1985;20:25-29.
168. Capitanio MA, Kirkpatrick JA. Roentgenographic evaluation of intestinal obstruction in the newborn infant. Pediatr. Clin. North Am. 1970;17:983-1001.
169. Ranchod M, Lewin KJ, Dorfman RF. Lymphoid hyperplasia of the gastrointestinal tract. A study of 26 cases and review of the literature. Am. J. Surg. Pathol. 1978;2:383-400.
170. Brooks JJ, Enterline HT. Primary gastric lymphomas. A clinicopathologic study of 58 cases with long-term follow-up and literature review. Cancer 1983;51:701-711.
171. Coffin CM, Pappin AL. Polyps and neoplasms of the gastrointestinal tract in childhood and adolescents In: Dahms BB, Qualman S, editors. Perspectives in Pediatric Pathology, Volume 20. Basel, Switzerland: S. Karger AG, 1997;127-171.