What is juvenile polyposis coli?

Answer

Juvenile polyposis coli

A child with 3-10 colonic polyps, any number of polyps in the GI tract outside of the colon, or one polyp and a family history of juvenile polyposis is considered to have the syndrome.

Most patients have 50-100 colorectal polyps; they may also have gastric and small intestinal polyps.

Identifying patients with this syndrome is fundamental because of the high risk for carcinoma (17%) at an early age; the mean age at diagnosis of carcinoma is 35.5 years.^[11]

Close long-term surveillance is important. The amount of polyps increases the risk of chronic bleeding, which subsequently leads to iron deficiency anemia, hypoproteinemia, and failure to thrive.^{[12, 13]}

Macroscopically, these polyps resemble the isolated juvenile polyps; however, histologically, they have more epithelium with a villous or papillary configuration. Epithelial dysplasia can occur. Adenomas can also be found in conjunction with juvenile polyps.^[10]Lobular polyps have a higher propensity for a more severe dysplasia (47%) than non-lobular polyps (10%).^[14]

According to the St. Mark's Polyposis Registry in London, the cumulative risk of cancer in patients with a juvenile polyposis syndrome is 68% by age 60 years.^[15]Because the entity is transmitted in an autosomal dominant fashion, patients with a juvenile polyposis syndrome and their families must receive long-term follow-up.^[16]

Some authors advocate prophylactic total colectomy and rectal mucosectomy with an endorectal pull-through (ERPT),^[14]whereas others recommend regular screening with colonoscopy and subsequent colectomy if severe dysplasia, rapid polyp formation, or bleeding occurs.^[17]

When intussusception occurs in children older than 2 years, the discovery of a specific lead point is not uncommon (22%); however, lead points are only found in 2-8% of children within the usual age range (6-18 months).^[9]When a polyp is demonstrated as a lead point in a patient with intussusception, an evaluation may be indicated to identify polyposis syndromes.

Some hamartomas do not appear to have any malignant potential. However, germline mutations and somatic inactivation of STK11, SMAD4, BMPR1A, and PTEN genes in hamartomatous polyposis syndromes create an epithelial environment favorable for neoplastic transformation.^[4]

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Siegel RL, Miller KD, Goding Sauer A, et al. Colorectal cancer statistics, 2020. CA Cancer J Clin. 2020 Mar 5. [Medline].
Chakedis J, Schmidt CR. Surgical treatment of metastatic colorectal cancer. Surg Oncol Clin N Am. 2018 Apr. 27 (2):377-99. [Medline].
Levine O, Zbuk K. Colorectal cancer in adolescents and young adults: defining a growing threat. Pediatr Blood Cancer. 2019 Nov. 66 (11):e27941. [Medline].
Gryfe R. Clinical implications of our advancing knowledge of colorectal cancer genetics: inherited syndromes, prognosis, prevention, screening and therapeutics. Surg Clin North Am. 2006 Aug. 86(4):787-817. [Medline].
Shussman N, Wexner SD. Colorectal polyps and polyposis syndromes. Gastroenterol Rep (Oxf). 2014 Feb. 2(1):1-15. [Medline]. [Full Text].
Esteban-Jurado C, Garre P, Vila M, et al. New genes emerging for colorectal cancer predisposition. World J Gastroenterol. 2014 Feb 28. 20(8):1961-71. [Medline]. [Full Text].
Baiocchi GL, Portolani N, Vermi W, Baronchelli C, Gheza F, Zogno C. Lynch syndrome from a surgeon perspective: retrospective study of clinical impact of mismatch repair protein expression analysis in colorectal cancer patients less than 50 years old. BMC Surg. 2014. 14:9. [Medline].
Shah S, Youssef E, Saccio M, Hahn B. Juvenile polyp. J Emerg Med. 2011 Nov. 41 (5):e111-2. [Medline].
Shalkow, J. Fast Five Quiz: Are You Prepared to Confront Intussusception. eMedicine from WebMD. Available at https://reference.medscape.com/viewarticle/862290. Updated Apr 25, 2016; Accessed: December 20, 2019.
Myers EA, Feingold DL, Forde KA, Arnell T, Jang JH, Whelan RL. Colorectal cancer in patients under 50 years of age: a retrospective analysis of two institutions' experience. World J Gastroenterol. 2013 Sep 14. 19(34):5651-7. [Medline].
Kaminski MF, Hassan C, Bisschops R, Pohl J, Pellisé M, Dekker E. Advanced imaging for detection and differentiation of colorectal neoplasia: European Society of Gastrointestinal Endoscopy (ESGE) Guideline. Endoscopy. 2014 May. 46(5):435-49. [Medline].
Comstock SS, Hortos K, Kovan B, McCaskey S, Pathak DR, Fenton JI. Adipokines and obesity are associated with colorectal polyps in adult males: a cross-sectional study. PLoS One. 2014. 9(1):e85939. [Medline].
Shah N, Sasikumar P, Rajkumar JS. Single incision laparoscopic surgery - trans anal endoscopic microsurgery: A technological innovation. J Minim Access Surg. 2014 Apr. 10(2):99-101. [Medline].
Bécouarn Y, Cany L, Pulido M, Beyssac R, Texereau P, Le Morvan V. FOLFIRI® and bevacizumab in first-line treatment for colorectal cancer patients: safety, efficacy and genetic polymorphisms. BMC Res Notes. 2014. 7:260. [Medline].
Tomiak E, Samson A, Spector N, Mackey M, Gilpin C, Smith E. Reflex testing for Lynch syndrome: if we build it, will they come? Lessons learned from the uptake of clinical genetics services by individuals with newly diagnosed colorectal cancer (CRC). Fam Cancer. 2014 Mar. 13(1):75-82. [Medline].
Andersson A, Bergdahl L. Carcinoma of the colon in children: a report of six new cases and a review of the literature. J Pediatr Surg. 1976 Dec. 11(6):967-71. [Medline].
Andrassy RJ, ed. Pediatric Surgical Oncology. Philadelphia, PA: WB Saunders Co; 1998.
Singer G, Hoellwarth ME. Colorectal carcinomas in children: an institutional experience. Pediatr Surg Int. 2012 Jun. 28 (6):591-5. [Medline].
Holder T, Ashcraft K, eds. Ashcraft's Pediatric Surgery. 3rd ed. Philadelphia, PA: WB Saunders Co; 2002.
Barnard JA. Gastrointestinal polyps and polyp syndromes in adolescents. Adolesc Med Clin. 2004 Feb. 15(1):119-29, x. [Medline].
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. 1962 Dec. 14:376-90. [Medline].
Bilkay U, Erdem O, Ozek C, Helvaci E, Kilic K, Ertan Y, et al. Benign osteoma with Gardner syndrome: review of the literature and report of a case. J Craniofac Surg. 2004 May. 15(3):506-9. [Medline].
Boardman LA. Heritable colorectal cancer syndromes: recognition and preventive management. Gastroenterol Clin North Am. 2002 Dec. 31(4):1107-31. [Medline].
Ballantyne GH. Theories of carcinogenesis and their impact on surgical treatment of colorectal cancer. A historical review. Dis Colon Rectum. 1988 Jul. 31(7):513-7. [Medline].
Andreu P, Colnot S, Godard C, et al. Identification of the IFITM family as a new molecular marker in human colorectal tumors. Cancer Res. 2006 Feb 15. 66(4):1949-55. [Medline].
Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot's syndrome. N Engl J Med. 1995 Mar 30. 332(13):839-47. [Medline].
Bower RJ, Sieber WK, Kiesewetter WB. Alimentary tract duplications in children. Ann Surg. 1978 Nov. 188(5):669-74. [Medline].
Urushihara M, Furukawa S, Ota A, Iwai A, Matsumura K, Hamada Y. Hemorrhagic telangiectasia with thrombocytopenia in a newborn infant. Pediatr Int. 2000 Dec. 42 (6):693-5. [Medline].
Church J, Simmang C. Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer). Dis Colon Rectum. 2003 Aug. 46(8):1001-12. [Medline].
Cleary SP, Zhang W, Di Nicola N, Aronson M, Aube J, Steinman A, et al. Heterozygosity for the BLM(Ash) mutation and cancer risk. Cancer Res. 2003 Apr 15. 63(8):1769-71. [Medline].
Elinav E, Salameh-Giryes S, Ackerman Z, Goldschmidt N, Nissan A, Chajek-Shaul T. Does any lower gastrointestinal bleeding in patients suffering from hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) necessitate a full colonic visualization?. Int J Colorectal Dis. 2004 Nov. 19 (6):595-8. [Medline].
Coburn MC, Pricolo VE, DeLuca FG, Bland KI. Malignant potential in intestinal juvenile polyposis syndromes. Ann Surg Oncol. 1995 Sep. 2(5):386-91. [Medline].
Guarinos C, Sánchez-Fortún C, Rodríguez-Soler M, Alenda C, Payá A, Jover R. Serrated polyposis syndrome: molecular, pathological and clinical aspects. World J Gastroenterol. 2012 May 28. 18 (20):2452-61. [Medline].
Hampel H. Population screening for hereditary colorectal cancer. Surg Oncol Clin N Am. 2018 Apr. 27 (2):319-25. [Medline].
Oliveira C, Pinheiro H, Figueiredo J, Seruca R, Carneiro F. Familial gastric cancer: genetic susceptibility, pathology, and implications for management. Lancet Oncol. 2015 Feb. 16 (2):e60-70. [Medline].
Cribbs RK, Wulkan ML, Heiss KF, Gow KW. Minimally invasive surgery and childhood cancer. Surg Oncol. 2007 Nov. 16(3):221-8. [Medline].
Cronkhite L, Canada WJ. Generalized gastrointestinal polyposis; an unusual syndrome of polyposis, pigmentation, alopecia and onychotrophia. N Engl J Med. 1955 Jun 16. 252(24):1011-5. [Medline].
DeVita VT Jr, Hellman S, Rosenberg SA, eds. Principles and Practice of Oncology. 6th ed. Philadelphia, PA: Lippincott, Williams and Wilkins; 2001.
Sandoval JA, Fernandez-Pineda I, Malkan AD. Risk-reduction surgery in pediatric surgical oncology: A perspective. J Pediatr Surg. 2016 Apr. 51 (4):675-87. [Medline].
Kennedy RD, Zarroug AE, Moir CR, Mao SA, El-Youssef M, Potter DD. Ileal pouch anal anastomosis in pediatric familial adenomatous polyposis: a 24-year review of operative technique and patient outcomes. J Pediatr Surg. 2014 Sep. 49 (9):1409-12. [Medline].
Moghadamyeghaneh Z, Hanna MH, Carmichael JC, et al. Nationwide analysis of outcomes of bowel preparation in colon surgery. J Am Coll Surg. 2015 May. 220 (5):912-20. [Medline].
Salem JF, Gummadi S, Marks JH. Minimally invasive surgical approaches to colon cancer. Surg Oncol Clin N Am. 2018 Apr. 27 (2):303-18. [Medline].
Ladd W, Gross RE. Surgical treatment of duplication of the alimetary tract: Enterogenous cysts, enteric cysts, or ileum duplex. Surg Gynecol Obstet. 1940. 70:295-307.
Rahman MA, Chowdhury TK, Bhuiyan MA, Al Farooq MA, Sajid MM, Banu T. Colorectal carcinoma in first decade of life: our experience. Pediatr Surg Int. 2014 Aug. 30 (8):847-51. [Medline].
De Pergola G, Silvestris F. Obesity as a major risk factor for cancer. J Obes. 2013. 2013:291546. [Medline].
Pan P, Yu J, Wang LS. Colon cancer: what we eat. Surg Oncol Clin N Am. 2018 Apr. 27 (2):243-67. [Medline].
Toneva GD, Deierhoi RJ, Morris M, et al. Oral antibiotic bowel preparation reduces length of stay and readmissions after colorectal surgery. J Am Coll Surg. 2013 Apr. 216 (4):756-62; discussion 762-3. [Medline].
Park VS, Pursell ZF. POLE proofreading defects: contributions to mutagenesis and cancer. DNA Repair (Amst). 2019 Apr. 76:50-9. [Medline].
Lakatos PL, Lakatos L. Risk for colorectal cancer in ulcerative colitis: changes, causes and management strategies. World J Gastroenterol. 2008 Jul 7. 14 (25):3937-47. [Medline].
Nicholson AD, Guo X, Sullivan CA, Cha CH. Automated quantitative analysis of tissue microarray of 443 patients with colorectal adenocarcinoma: low expression of Bcl-2 predicts poor survival. J Am Coll Surg. 2014 Nov. 219 (5):977-87. [Medline].
LeSher AR, Castronuovo JJ Jr, Filippone AL Jr. Hepatoblastoma in a patient with familial polyposis coli. Surgery. 1989 May. 105(5):668-70. [Medline].
Levin B. Inflammatory bowel disease and colon cancer. Cancer. 1992 Sep 1. 70(5 Suppl):1313-6. [Medline].
La Quaglia MP, Heller G, Filippa DA, et al. Prognostic factors and outcome in patients 21 years and under with colorectal carcinoma. J Pediatr Surg. 1992 Aug. 27(8):1085-9; discussion 1089-90. [Medline].
Italiano A, Saint-Paul MC, Caroli-Bosc FX, et al. Epidermal growth factor receptor (EGFR) status in primary colorectal tumors correlates with EGFR expression in related metastatic sites: biological and clinical implications. Ann Oncol. 2005 Sep. 16(9):1503-7. [Medline].
Lindor NM, Rabe K, Petersen GM, et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA. 2005 Apr 27. 293(16):1979-85. [Medline].
Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet. 1999 Nov. 36(11):801-18. [Medline].
La Quaglia MP, Feins N, Eraklis A, Hendren WH. Rectal duplications. J Pediatr Surg. 1990 Sep. 25(9):980-4. [Medline].
Ferrari A, Bertario L, Signoroni S, Gil Deza E, Gercovich G. Colorectal carcinoma in children and adolescents. cure4kids. Available at https://www.cure4kids.org/private/oncochap/ocrev_302/Onco-Ch68-Colorectal-Carcinaoma.pdf. Accessed: June 6, 2020.
Kim JH, Choi PR, Park SJ, et al. Prognostic factors for metastatic colorectal cancer after first-line chemotherapy with FOLFOX-4 or FOLFIRI regimen. Korean J Gastroenterol. 2014 Apr. 63(4):209-15. [Medline].
Wang H, Tso V, Wong C, Sadowski D, Fedorak RN. Development and validation of a highly sensitive urine-based test to identify patients with colonic adenomatous polyps. Clin Transl Gastroenterol. 2014. 5:e54. [Medline].
Ganepola GA, Nizin J, Rutledge JR, Chang DH. Use of blood-based biomarkers for early diagnosis and surveillance of colorectal cancer. World J Gastrointest Oncol. 2014 Apr 15. 6(4):83-97. [Medline]. [Full Text].
Kaste SC, Marina N, Fryrear R, et al. Peritoneal metastases in children with cancer. Cancer. 1998 Jul 15. 83(2):385-90. [Medline].
Arena EA, Bilchik AJ. What is the optimal means of staging colon cancer?. Adv Surg. 2013. 47:199-211. [Medline].
Amin MB, Edge S, Greene F, et al. AJCC Cancer Staging Manual. 8th ed. New York, NY: Springer; 2017. 252-4.
Pellino G, Selvaggi F. Restorative proctocolectomy in pediatric patients. J Am Coll Surg. 2014 Nov. 219 (5):1106. [Medline].
Ozdemir Y, Kiran RP, Erem HH, et al. Functional outcomes and complications after restorative proctocolectomy and ileal pouch anal anastomosis in the pediatric population. J Am Coll Surg. 2014 Mar. 218 (3):328-35. [Medline].
Warmann SW, Seitz G, Fuchs J. Surgical complications in pediatric surgical oncology. Pediatr Blood Cancer. 2012 Aug. 59 (2):398-404. [Medline].
Septer S, Lawson CE, Anant S, Attard T. Familial adenomatous polyposis in pediatrics: natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing debate. Fam Cancer. 2016 Jul. 15 (3):477-85. [Medline].
Heiss KF, Schaffner D, Ricketts RR, Winn K. Malignant risk in juvenile polyposis coli: increasing documentation in the pediatric age group. J Pediatr Surg. 1993 Sep. 28(9):1188-93. [Medline].
Bi X, Lin Q, Foo TW, et al. Proteomic analysis of colorectal cancer reveals alterations in metabolic pathways: mechanism of tumorigenesis. Mol Cell Proteomics. 2006 Jun. 5 (6):1119-30. [Medline].

Media Gallery

This picture depicts an abdominal CT scan of a 7 year-old boy with a mucinous adenocarcinoma of the ascending colon. Note the thickness and increased vascularity of the colonic wall, as well as irregularities on the serosal surface. This cut also shows severe tumor infiltration of the colonic mesentery surrounding the mesenteric and retroperitoneal vessels.
Coronal CT scan demonstrating the profuse tumoral infiltration of the ascending colonic mesentery surrounding mesenteric and portal vessels. Also note the thickness of the colonic hepatic flexure.
Surgical specimen after right hemicolectomy, including the terminal ileum up to the transverse colon. Mesenteric fat, vessels and lymph nodes were resected en block with the ascending colon. The large intestine has been opened longitudinally. Note the tumor on the right lower quadrant of the image, with severe thickness of the wall, areas of necrosis and hemorrhage, and some stippled calcifications.

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Author

Jaime Shalkow, MD, FACS Pediatric Surgical Oncologist, National Institute of Pediatrics, ABC Cancer Center, Anahuac University, Mexico

Jaime Shalkow, MD, FACS is a member of the following medical societies: American College of Surgeons, International Society of Paediatric Surgical Oncology, Latin American Pediatric Surgical Oncology Group, Mexican Association of Pediatric Surgery, Mexican Association of Pediatrics, Mexican Society of Oncology

Disclosure: Nothing to disclose.

Coauthor(s)

Rodrigo Díaz-Machorro, MD Pediatric Oncologic Surgeon, Pediatric Surgeon, Pediatric National Institute, ABC Medical Center, and Medica Sur, Mexico

Rodrigo Díaz-Machorro, MD is a member of the following medical societies: Mexican Association of Pediatric Surgery, Mexican Association of Pediatrics, Mexican Society of Oncology

Disclosure: Nothing to disclose.

Daniel Margain Treviño, MD Chief Resident, Department of General Surgery, ABC Medical Center, Mexico

Disclosure: Nothing to disclose.

Leonard H Wexler, MD Pediatric Oncologist, Memorial Sloan-Kettering Cancer Center

Leonard H Wexler, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Clinical Oncology, American Society of Pediatric Hematology/Oncology, Connective Tissue Oncology Society

Disclosure: Nothing to disclose.

Michael P La Quaglia, MD, FACS, FAAP, FRCS(Ed Hon) Chief of Pediatric Surgical Service, Joseph H Burchenal Chair in Pediatrics, Memorial Sloan-Kettering Cancer Center; Professor, Department of Surgery, Weill-Cornell University Medical School

Michael P La Quaglia, MD, FACS, FAAP, FRCS(Ed Hon) is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Association for Cancer Research, American College of Surgeons, American Pediatric Surgical Association, American Society of Transplant Surgeons, New York Academy of Sciences, Society of Laparoendoscopic Surgeons, Society of Surgical Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Steven K Bergstrom, MD Department of Pediatrics, Division of Hematology-Oncology, Kaiser Permanente Medical Center of Oakland

Steven K Bergstrom, MD is a member of the following medical societies: Alpha Omega Alpha, Children's Oncology Group, American Society of Clinical Oncology, International Society for Experimental Hematology, American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Chief Editor

Cameron K Tebbi, MD Director, Children's Cancer Research Group Laboratories; Pediatric Hematologist/Oncologist, Tampa General Hospital and St Joseph's Children’s Hospital of Tampa

Disclosure: Nothing to disclose.

Additional Contributors

Aviva L Katz, MD Assistant Professor of Surgery, University of Pittsburgh School of Medicine; Consulting Staff, Division of General and Thoracic Surgery, Children's Hospital of Pittsburgh

Aviva L Katz, MD is a member of the following medical societies: American Academy of Pediatrics, Association of Women Surgeons, American College of Surgeons, American Pediatric Surgical Association, Physicians for Social Responsibility, Wilderness Medical Society

Disclosure: Nothing to disclose.

Joyce Vazquez-Braverman, MD Instructor of ACLS, BLS, and Heartsavers, American Heart Assocation

Joyce Vazquez-Braverman, MD is a member of the following medical societies: American College of Physicians

Disclosure: Nothing to disclose.

Eduardo Fastag Guttman, MD Medical Assistant Physician, Anesthesiology Integral

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