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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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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