1. Juvenile polyps Lara Oyetunji January 26, 2012

2. Case Presentation JB is a13 year old male with an approximately 5-year history of rectal bleeding and diagnosis of constipation.JB is a13 year old male with an approximately 5-year history of rectal bleeding and diagnosis of constipation. Seen by Gastroenterology at Swedish where he underwent 2 colonoscopies in March 2010 and April 2011 which showed what parents report as inflammation and a distal rectal polyp which was not removed due to location and risk of excessive bleeding.Seen by Gastroenterology at Swedish where he underwent 2 colonoscopies in March 2010 and April 2011 which showed what parents report as inflammation and a distal rectal polyp which was not removed due to location and risk of excessive bleeding. He has had multiple different clean-out regimens and has been placed on MiraLAX over this period of time due to concerns for constipation.He has had multiple different clean-out regimens and has been placed on MiraLAX over this period of time due to concerns for constipation. Transfer of care to Gastroenterology at Seattle Children’s in August 2011.Transfer of care to Gastroenterology at Seattle Children’s in August 2011.

3. PAST MEDICAL HISTORY:PAST MEDICAL HISTORY: Birth history is normal.Birth history is normal. Growth and development are normal.Growth and development are normal. He was born 3-1/2 weeks early and weighed 6 pounds 3 ounces at birth.He was born 3-1/2 weeks early and weighed 6 pounds 3 ounces at birth. Hospitalized in 2007 for a GoLYTELY clean-out.Hospitalized in 2007 for a GoLYTELY clean-out. PAST SURGICAL HISTORY: None. Anesthesia for his 3 colonoscopies.PAST SURGICAL HISTORY: None. Anesthesia for his 3 colonoscopies. MEDICATIONS:MEDICATIONS: Concerta for attention deficit.Concerta for attention deficit. MiraLAX,MiraLAX, MVI,MVI, previously on Cortifoam enemas.previously on Cortifoam enemas. ALLERGIES: No known drug allergiesALLERGIES: No known drug allergies Case Presentation

4. Underwent an esophagogastroduodenoscopy and a colonoscopy on January 6, 2012Underwent an esophagogastroduodenoscopy and a colonoscopy on January 6, 2012 EGD: Lower esophageal sphincter was at 34 cm from the lip, no hiatal hernia. Normal appearing stomach, pylorus and duodenum.EGD: Lower esophageal sphincter was at 34 cm from the lip, no hiatal hernia. Normal appearing stomach, pylorus and duodenum. Colonoscopy:Colonoscopy: Two polypoid lesions within 5 cm of the anal verge into the rectum, unable to decide if the lesions were pedunculated or not.Two polypoid lesions within 5 cm of the anal verge into the rectum, unable to decide if the lesions were pedunculated or not. Nearby, the bases of the 2 polypoid lesions, nodular mucosal lesions were seen. There was no bleeding despite multiple contact with the lesions.Nearby, the bases of the 2 polypoid lesions, nodular mucosal lesions were seen. There was no bleeding despite multiple contact with the lesions. Otherwise normal exam including terminal ileum.Otherwise normal exam including terminal ileum. Pathology: Polypoid lesion lined by colonic mucosa. Much of surface is ulcerated with chronic inflammed granulation tissue. Mucus filled cysts are present, some of which have ruptured. No neoplasia or dysplasia. Consistent with juvenile polyp.Pathology: Polypoid lesion lined by colonic mucosa. Much of surface is ulcerated with chronic inflammed granulation tissue. Mucus filled cysts are present, some of which have ruptured. No neoplasia or dysplasia. Consistent with juvenile polyp. Referred to the surgery clinic, seen on January 10, 2012.Referred to the surgery clinic, seen on January 10, 2012. Case Presentation

7. Prevalence of Colorectal Polyps in Pediatric Colonoscopy Kalpesh Thakkar, Abeer Alsarraj, Emily Fong, Jennifer L. Holub, Mark A. Gilger and Hashem B. El Serag Digestive Disease and Science, 2011 Dec 7 AIMS: To estimate the prevalence, types, and clinical determinants of colonic polyps in a large cohort of children.To estimate the prevalence, types, and clinical determinants of colonic polyps in a large cohort of children. METHODS : Cross-sectional study to determine the presence, number, and location of colorectal polyps reported in all children (0-20 years) who underwent colonoscopy at 14 pediatric facilities between January 2000 and December 2007 recorded in Pediatric Endoscopy Database System Clinical Outcomes Research Initiative (PEDS-CORI).Cross-sectional study to determine the presence, number, and location of colorectal polyps reported in all children (0-20 years) who underwent colonoscopy at 14 pediatric facilities between January 2000 and December 2007 recorded in Pediatric Endoscopy Database System Clinical Outcomes Research Initiative (PEDS-CORI). They compared procedures with and without polyps with respect to procedure indication, age, sex, and race.They compared procedures with and without polyps with respect to procedure indication, age, sex, and race.

8. RESULTS: Analysis of 13,115 colonoscopy procedures performed in 11,637 patients.Analysis of 13,115 colonoscopy procedures performed in 11,637 patients. Colorectal polyps were reported in 810 procedures (6.1%) and in 12% of patients with lower GI bleeding.Colorectal polyps were reported in 810 procedures (6.1%) and in 12% of patients with lower GI bleeding. Children with colorectal polyps compared to those without wereChildren with colorectal polyps compared to those without were significantly younger (8.9 years vs. 11.9 years),significantly younger (8.9 years vs. 11.9 years), male (58.3% vs. 49.0%)male (58.3% vs. 49.0%) non-white race (27.5% vs. 21.9%), andnon-white race (27.5% vs. 21.9%), and had lower GI bleeding (54.4% vs. 26.6%)had lower GI bleeding (54.4% vs. 26.6%) In a sample of 122 patients with polyps from a single center, the histological types were solitary juvenile in 91 (70.5%), multiple juvenile in 20 (15.5%), adenoma in 14 (10.9%) and hyperplastic polyps in four patients (3.1%).In a sample of 122 patients with polyps from a single center, the histological types were solitary juvenile in 91 (70.5%), multiple juvenile in 20 (15.5%), adenoma in 14 (10.9%) and hyperplastic polyps in four patients (3.1%). CONCLUSIONS: Colorectal polyps are detected in 6.1% overall and in 12.0% among those with lower gastrointestinal bleeding during pediatric colonoscopy. Approximately 26% are multiple juvenile or adenoma. CONCLUSIONS: Colorectal polyps are detected in 6.1% overall and in 12.0% among those with lower gastrointestinal bleeding during pediatric colonoscopy. Approximately 26% are multiple juvenile or adenoma. Prevalence of Colorectal Polyps in Pediatric Colonoscopy Kalpesh Thakkar, Abeer Alsarraj, Emily Fong, Jennifer L. Holub, Mark A. Gilger and Hashem B. El Serag Digestive Disease and Science, 2011 Dec 7

9. Differential Diagnosis? Isolated Juvenile PolypsIsolated Juvenile Polyps Juvenile Polyposis syndromeJuvenile Polyposis syndrome Peutz-Jeghers syndromePeutz-Jeghers syndrome Hereditary non-polyposis colon cancer (HNPCC)Hereditary non-polyposis colon cancer (HNPCC) Familial adenomatous polyposis (FAP)Familial adenomatous polyposis (FAP) Cronkite-Canada syndromeCronkite-Canada syndrome Cowden syndromeCowden syndrome

10. Autosomal dominant disorderAutosomal dominant disorder Predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum.Predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than a hundred.Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than a hundred. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Juvenile Polyposis syndrome

11. Histology: Juvenile polyps are hamartomas that develop from an abnormal collection of tissue elements normally present at this site.Juvenile polyps are hamartomas that develop from an abnormal collection of tissue elements normally present at this site. Juvenile polyps show a normal epithelium with a dense stroma, an inflammatory infiltrate, and a smooth surface with dilated, mucus-filled cystic glands in the lamina propria.Juvenile polyps show a normal epithelium with a dense stroma, an inflammatory infiltrate, and a smooth surface with dilated, mucus-filled cystic glands in the lamina propria. Muscle fibers and the proliferative characteristics of adenomas are typically not seen in juvenile polyps.Muscle fibers and the proliferative characteristics of adenomas are typically not seen in juvenile polyps. Juvenile Polyposis syndrome

12. Histology – normal colon

13. Histology - juvenile polyp

14. Histology – adenoma

15. Histology – adenocarcinoma

16. If the polyps are left untreated, they may cause bleeding and anemia.If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur.Most juvenile polyps are benign; however, malignant transformation can occur. Risk of GI cancers in families with JPS ranges from 9% to 50%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have been reported.Risk of GI cancers in families with JPS ranges from 9% to 50%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have been reported. Annual screening should begin between the ages of 10 and 12 years.Annual screening should begin between the ages of 10 and 12 years. Juvenile Polyposis syndrome

17. Three types of juvenile polyposis syndrome have been described: Juvenile polyposis of infancyJuvenile polyposis of infancy characterized by polyps that occur throughout the gastrointestinal tract during infancy.characterized by polyps that occur throughout the gastrointestinal tract during infancy. Juvenile polyposis of infancy is the most severe form of the disorder and is associated with the poorest outcome.Juvenile polyposis of infancy is the most severe form of the disorder and is associated with the poorest outcome. Children with this type may develop a condition called protein-losing enteropathy.Children with this type may develop a condition called protein-losing enteropathy. This condition results in severe diarrhea, failure to thrive, and general wasting and cachexia.This condition results in severe diarrhea, failure to thrive, and general wasting and cachexia. Generalized juvenile polyposis is diagnosed when polyps develop throughout the gastrointestinal tract.Generalized juvenile polyposis is diagnosed when polyps develop throughout the gastrointestinal tract. In juvenile polyposis coli, affected people develop polyps only in their colon.In juvenile polyposis coli, affected people develop polyps only in their colon. Juvenile Polyposis syndrome

18. Diagnosis: Juvenile polyposis syndrome (JPS) is diagnosed if any one of the following findings is present:Juvenile polyposis syndrome (JPS) is diagnosed if any one of the following findings is present: More than five juvenile polyps of the colorectumMore than five juvenile polyps of the colorectum Multiple juvenile polyps of the upper and lower GI tractMultiple juvenile polyps of the upper and lower GI tract Any number of juvenile polyps and a family history of juvenile polypsAny number of juvenile polyps and a family history of juvenile polyps Management : Largely attributed to treatment of manifestations :Largely attributed to treatment of manifestations : Routine colonoscopy with endoscopic polypectomy to reduce the risk of bleeding, intestinal obstruction, and colon cancer. Routine colonoscopy with endoscopic polypectomy to reduce the risk of bleeding, intestinal obstruction, and colon cancer. When the number of polyps is large, removal of all or part of the colon or stomach may be necessary.When the number of polyps is large, removal of all or part of the colon or stomach may be necessary. Juvenile Polyposis syndrome

19. Peutz-Jeghers syndrome Polyposis of the small intestine and, to a lesser extent, polyposis of the colon and rectum.Polyposis of the small intestine and, to a lesser extent, polyposis of the colon and rectum. Characteristic melanin spots often are noted on the buccal mucosa and lips of these patients.Characteristic melanin spots often are noted on the buccal mucosa and lips of these patients. The polyps of Peutz-Jeghers syndrome generally are considered to be hamartomas and are not thought to be at significant risk for malignant degeneration. However, carcinoma may occasionally develop.The polyps of Peutz-Jeghers syndrome generally are considered to be hamartomas and are not thought to be at significant risk for malignant degeneration. However, carcinoma may occasionally develop. Because the entire length of the GI tract may be affected, surgery is reserved for symptoms such as obstruction or bleeding or for patients in whom polyps develop adenomatous features.Because the entire length of the GI tract may be affected, surgery is reserved for symptoms such as obstruction or bleeding or for patients in whom polyps develop adenomatous features. Screening consists of a baseline colonoscopy and upper endoscopy at age 20 years, followed by annual flexible sigmoidoscopy thereafter.Screening consists of a baseline colonoscopy and upper endoscopy at age 20 years, followed by annual flexible sigmoidoscopy thereafter.

20. Familial adenomatous polyposis (FAP) Colon cancer predisposition syndrome characterized by hundreds to thousands of precancerous adenomatous colonic polyps, beginning at a mean age of 16 years (range 7-36 years).Colon cancer predisposition syndrome characterized by hundreds to thousands of precancerous adenomatous colonic polyps, beginning at a mean age of 16 years (range 7-36 years). APC is the only gene in which mutation is known to cause FAP.APC is the only gene in which mutation is known to cause FAP. Inheritance is autosomal dominant.Inheritance is autosomal dominant. The adenomatous polyps of FAP and juvenile polyps of JPS are histologically distinct.The adenomatous polyps of FAP and juvenile polyps of JPS are histologically distinct. Extracolonic manifestations that are variably present include polyps of the gastric fundus and duodenum, osteomas, dental anomalies, congenital hypertrophy of the retinal pigment epithelium (CHRPE), soft-tissue tumors, and desmoid tumors.Extracolonic manifestations that are variably present include polyps of the gastric fundus and duodenum, osteomas, dental anomalies, congenital hypertrophy of the retinal pigment epithelium (CHRPE), soft-tissue tumors, and desmoid tumors.

21. Hereditary non-polyposis colon cancer (HNPCC) Inheritance is autosomal dominant. Inheritance is autosomal dominant. HNPCC is known to be associated with mutations in five genes involved in mismatch repair: MSH2, MLH1, PMS1, PMS2, and MSH6.HNPCC is known to be associated with mutations in five genes involved in mismatch repair: MSH2, MLH1, PMS1, PMS2, and MSH6. Pathology of the polyps should be useful in distinguishing the this and juvenile polyposis syndrome.Pathology of the polyps should be useful in distinguishing the this and juvenile polyposis syndrome. There is an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin.There is an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin.

22. Cronkite-Canada syndrome GI polyposis in association with alopecia, cutaneous pigmentation, and atrophy of the fingernails and toenails.GI polyposis in association with alopecia, cutaneous pigmentation, and atrophy of the fingernails and toenails. Diarrhea is a prominent symptom, and vomiting, malabsorption, and protein-losing enteropathy may occur.Diarrhea is a prominent symptom, and vomiting, malabsorption, and protein-losing enteropathy may occur. Mortality rate exceeds 50% regardless of therapy, coexistent malignant changes in the polyps, gastrointestinal bleeding, and the possibility of intussusception or prolapse of gastric polyp- bearing mucosa increase the mortalityMortality rate exceeds 50% regardless of therapy, coexistent malignant changes in the polyps, gastrointestinal bleeding, and the possibility of intussusception or prolapse of gastric polyp- bearing mucosa increase the mortality Surgery is reserved for complications of polyposis, such as obstruction.Surgery is reserved for complications of polyposis, such as obstruction.

23. Cowden syndrome Autosomal dominant disorderAutosomal dominant disorder Hamartomas of all three embryonal cell layers.Hamartomas of all three embryonal cell layers. Facial trichilemmomas, breast cancer, thyroid disease, and GI polyps are typical of the syndrome. Patients should be screened for cancers.Facial trichilemmomas, breast cancer, thyroid disease, and GI polyps are typical of the syndrome. Patients should be screened for cancers.

24. JB – what next? Exam under anesthesia to determine if the larger polyp is resectable or not.Exam under anesthesia to determine if the larger polyp is resectable or not. If it pedunculated do a transanal excision of the lesion and biopsy any other concerning polyps.If it pedunculated do a transanal excision of the lesion and biopsy any other concerning polyps. If it is not pedunculated, intraoperative transrectal ultrasound to determine depth of the lesion wiith consideration to doing a transanal sleeve proctectomy to excise the lesion.If it is not pedunculated, intraoperative transrectal ultrasound to determine depth of the lesion wiith consideration to doing a transanal sleeve proctectomy to excise the lesion. Recommend annual screening with flexible sigmoidoscopy.Recommend annual screening with flexible sigmoidoscopy.

25. Questions?