Juvenile and adenomatous gastrointestinal polyposis

Summary This is the fourth report of a case showing an association between juvenile and adenomatous polyposis. Starting at age 14, this patient underwent multiple polypectomies and gastrointestinal resections over a 15-year period. Although initial biopsies were diagnosed as juvenile polyps, later biopsies showed both adenomatous polyps and large polypoid masses with a mixture of juvenile and adenomatous features. Several typical small hyperplastic polyps were also found in the stomach. This case contrasts with the previous three cases in that the gastrointestinal tract is more widely involved and in that there is an unusual marked hyperplasia of argentaffin-and argyrophil-positive cells. The case reported here strengthens the relation between adenomatous polyposis and juvenile polyposis.     

Pouch excision for recurrent serrated adenomas following restorative proctocolectomy for juvenile polyposis

PURPOSE: The study contained herein was undertaken to report the case of a patient with juvenile polyposis in whom multiple and rapid recurrence of mixed polyps, with progressive predominance of the adenomatous component, developed in a diverted ileoanal pouch. METHODS: The case of this patient with juvenile polyposis was reviewed. Despite regular surveillance and polypectomies, extensive and multiple recurrences of serrated polyps developed. RESULTS: Because the pouch was never cleared of polyps, a compromise to remove the pouch was decided on. Such a case has not been reported previously. CONCLUSION: Mixed juvenile polyposis may affect any level of the gastrointestinal tract. The ileal pouch and any rectal remnant may incidentally need surgical excision.     

Juvenile colonic polyposis with villous adenoma and retroperitoneal fibrosis: Report of a case

Summary A 25-year-old Nigerian black woman was found to have polyps involving the rectum, rectosigmoid, and sigmoid colon on air-contrast barium-enema examination. Resection of a segment of sigmoid colon revealed numerous polyps that were predominantly of the juvenile type, in keeping with the diagnosis of juvenile polyposis of the colon. This case is unusual because of the coexistence of retroperitoneal fibrosis with juvenile polyposis of the colon. In addition, one of the colonic polyps was a villous adenoma. The implications of these findings are discussed in relation to polyposis syndromes reported previously.     

Generalized juvenile polyposis with carcinoma

Generalized juvenile polyposis usually is not associated with an increased risk for gastrointestinal carcinoma. A subgroup of patients, however, have juvenile polyps with adenomatous features. A case report of juvenile polyposis, together with adenocarcinoma of the colon and review of the literature, are presented to emphasize the potential for malignancy in this subgroup of patients and to guide appropriate evaluation.     

Juvenile polyps with cachexia. Report of an infant and comparison with Cronkhite-Canada syndrome in adults

Juvenile polyps occur in adults and infants; where multiple, they may be complicated by progressive cachexia with hypoalbuminemia and electrolyte depletion. We report a fatal case of multiple juvenile polyposis with cachexia, alopecia, and megalocephaly presenting in a 9-month-old infant, and review 2 additional cases in infancy. A similar syndrome in adults had been described by Cronkhite and Canada, with intestinal polyposis, nail dystrophy, hyperpigmentation, and alopecia. Histological examination of a polyp from one case of Cronkhite-Canada syndrome suggests a juvenile rather than adenomatous pathology. Multiple juvenile polyps can cause devastating enteropathy and cachexia.     

Diffuse juvenile polyposis of the colon: A premalignant condition?

Juvenile polyps are a common cause of rectal bleeding in the pediatric age group. These polyps are usually solitary, but occasionally polyposis can be identified by barium-enema or colonoscopic examinations. The benign nature of a single polyp or even scattered polyposis in childhood has been supported by several authors. A case of diffuse juvenile polyposis of the colon with associated adenomatous polyps of the colon in a 17-year-old girl who presented with iron deficiency anemia and rectal prolapse is discussed. This combination of diffuse juvenile polyposis and adenomatous polyps is an uncommon entity which is felt to represent a premalignant lesion that warrants appropriate therapy. A review of the literature concerning the cause, diagnosis, and treatment of juvenile polyps is also discussed.     

A case report of juvenile polyposis with adenomatous change and a review of 34 cases reported in Japan

It has recently come to be thought that cases of juvenile polyposis have a natural tendency to develop adenoma and/or carcinoma. Here we present a case of juvenile polyposis coli with adenomatous change in a 21-year-old male, with a review of 34 cases of juvenile polyposis in the Japanese literature, and discuss the pathogenetic development of the polyps and their malignant potential. In this case, focal or entire adenomatous areas were found in large part of the polyps in the resected sigmoid colon and rectum, though these findings had not been recognized in 23 polypectomy specimens from the rectum 10 months prior to the operation. It was suggested that adenomatous change developed quickly in a very short time.     

Juvenile polyposis coli A report of three patients in three generations of one family

Conclusions and Summary Three case reports are presented of three generations in one family having colonic polyps of juvenile type. A familial tendency to develop juvenile polyposis is suggested. Although a carcinoma occurred concomitantly in this series, there is insufficient evidence to suggest a relationship between familial juvenile polyposis coli and carcinoma.     

Colonic Polyps: Experience of 236 Indian Children

Objective: We studied the clinical spectrum, histology, and malignant potential of colonic polyps in Indian children (≤12 yr).
Methods: Two hundred thirty-six children with colonic polyps were studied from January 1991 to October 1996. They were evaluated clinically and colonoscopic polypectomy was done. Children with five or more juvenile polyps were labeled as having juvenile polyposis and serial colonoscopic polypectomies were done every 3 wk. Colectomy was performed when there were intractable symptoms or clearing of the polyps by colonoscopy was not possible. Histological examination of the polyps was done. Follow-up colonoscopy was done in children with juvenile polyposis only.
Results: The mean age of these children was 6.12 ± 2.7 yr, with a male preponderance (3.5:1). Rectal bleeding of a mean duration of 14 ± 16 months was the presenting symptom in 98.7%. Solitary polyps were seen in 76%, multiple polyps in 16.5%, and juvenile polyposis in 7% (  n = 17  ) of the children. A majority (93%) of the polyps were juvenile and 85% were rectosigmoid in location. Adenomatous changes, seen in 11%, were more common in juvenile polyposis (59%) than in juvenile polyps (5%). Among those with juvenile polyposis, colon clearance was achieved in eight, six required colectomy for intractable symptoms, and three were still on the polypectomy program. Polyps recurred in 5% of children with juvenile polyps and 37.5% of those with juvenile polyposis. Conclusions: Juvenile polyps remain the most common colonic polyps in children. A significant number of cases of polyps are multiple and proximally located, which emphasizes the need for total colonoscopy in all. Juvenile polyps should be removed even if asymptomatic because of their neoplastic potential. Colonoscopic polypectomy is effective even in juvenile polyposis. Surveillance colonoscopy is required in juvenile polyposis only.     

Colonic polyps in children and adolescents.

Colonic polyps most commonly present with rectal bleeding in children. The isolated juvenile polyp is the most frequent kind of polyp identified in children. 'Juvenile' refers to the histological type of polyp and not the age of onset of the polyp. Adolescents and adults with multiple juvenile polyps are at a significant risk of intestinal cancer. The challenge for adult and pediatric gastroenterologists is determining the precise risk of colorectal cancer in patients with juvenile polyposis syndrome. Attenuated familial adenamatous polyposis (AFAP) can occur either by a mutation at the extreme ends of the adenomatous polyposis coli gene or by biallelic mutations in the mutY homologue (MYH) gene. The identification of MYH-associated polyposis as an autosomal recessive condition has important implications for screening and management strategies. Adult and pediatric gastroenterologists need to be aware of the underlying inheritance patterns of polyposis syndromes so that patients and their families can be adequately evaluated and managed. Colonic polyps, including isolated juvenile polyps, juvenile polyposis syndrome, FAP, AFAP and MYH-associated polyposis, are discussed in the present review.     

Malignant potential of juvenile polyposis coli

Juvenile polyps of the colon and rectum traditionally have been viewed as being benign inflammatory or harmartomatous lesions without potential for malignant change. The authors report a case of adenocarcinoma developing in a patient with sporadic juvenile polyposis. Juvenile polyposis was diagnosed in the patient at age 4 years. He underwent subtotal colectomy at age 6 years. At age 12, he underwent a proctectomy and a Swenson pull-through because of adenomatous changes in the rectal stump. At age 19 surveillance endoscopy revealed invasive cancer in a juvenile polyp.     

Intraoperative small bowel enteroscopy in familial adenomatous and familial juvenile polyposis

Background: In familial adenomatous polyposis and juvenile polyposis, polyps can occur throughout the gastrointestinal tract.Methods: We report seven patients with familial adenomatous polyposis and two patients with juvenile polyposis who underwent small bowel enteroscopy at the time of exploratory celiotomy either for colectomy or other pathology.Results: Polyps in the jejunum and/or ileum were noted in five of nine (56%) patients at enteroscopy. In three of nine (33%) patients these polyps were adenomatous. Two of these patients had polyps in the jejunum and in the ileum, whereas one patient had jejunal adenomas alone. These polyps were from 3 mm to 30 mm in size. The remaining two patients with polyps had lymphoid hyperplasia in the ileum. All three patients who had adenomas at intraoperative small bowel enteroscopy had duodenal adenomas at esophagogastroduodenoscopy. At the age of 14 years, one patient had an intramucosal carcinoma in a small bowel juvenile polyp.Conclusion: Baseline small bowel enteroscopy should be considered at the time of surgical exploration in patients with asymptomatic familial adenomatous polyposis and juvenile polyposis. In patients with duodenal polyps, enteroscopy should be performed at the time of surgery. Biopsy and/or excision of larger polyps should be performed because these polyps may harbor a carcinoma. (Gastrointest Endosc 1995;42:560-4.)     

An Anti-adenoma Antibody, Adnab-9, May Reflect the Risk for Neoplastic Progression in Familial Hamartomatous Polyposis Syndromes

Patients with the hamartomatous polyposis Peutz-Jeghers and familial juvenile polyposis syndromes are predisposed to colorectal cancer but lack early genetic alterations found in adenomatous premalignant lesions. We studied hamartomatous polyps for the expression of an early preneoplastic colorectal neoplasia risk marker also found in familial adenomatous polyposis patients. Retrospective, genetic, and hospital archival tissue immunohistochemistry using Adnab-9, a premalignant marker often found in Paneth-like cells (PCs), was performed on sections of polyps from eight patients with Peutz-Jeghers syndrome, eight patients with familial juvenile polyposis, and 36 hyperplastic polyp control sections. Anti-α-defensin 5 (AD5), a universal PC marker, was also used to label a subgroup of sections. Hamartomatous polyposis patients also underwent specific genetic analysis. Eighty-nine percent of Peutz-Jeghers syndrome polyps labeled with Adnab-9 compared with 63% for AD5; 88% of familial juvenile polyposis sections also labeled with Adnab-9. Of the 36 hyperplastic polyp sections, only four (11%) labeled with Adnab-9 and one (3%) with AD5. Adnab-9 labeling of PCs in the epithelial elements of hamartomatous colonic lesions of hereditary hamartomatous syndrome patients reflects the predisposition to colorectal cancer, further justifying early intervention strategies.     

Clinicopathological study of juvenile polyp

Thirty-two cases of juvenile polyp were investigated for the clinical and pathological findings. This type polyps occured frequently in the first decade with male predominance. Melena and bloody stool were found in all cases, prolapse of the polyps in 28%, and spontaneous amputation in 9.4%. The duration of symptoms were usually within 6 months. The polyps were found frequently in the rectum and sigmoid colon, about 75%. One case of juvenile polyposis in a 12 years-old male was found. The size of the polyps was usually within 2 cm in diameter and the majority of the polyps were pedunculated. Polypectomy was performed for all cases and additional partial resection for 2 cases with multiple polyps and polyposis. Recurrence and malignant transformation were not found. It should be considered that these are at least two types of histogenesis for the so-called juvenile polyp like as hamartomatous and inflammatory.     

Juvenile polyposis of the colon with atypical adenomatous changes and carcinomain Situ

Juvenile polyps are thought to have no malignant potential; however, we report a case of diffuse juvenile polyposis coli in a 19-year-old man where mucosal dysplastic changes ranging from mild dysplasia to carcinomain situ are present. The pathogenetic development of these polyps and their malignant potential are discussed.     

Hereditäres Kolonkarzinom

Colorectal cancer (CRC) is the 2^nd most common cancer in Germany (incidence 70,000 individuals each year). In 20–30% of all cases, a positive familial history is present, and in 2–5% there is a monogenetic background. The most common form of hereditary CRC is hereditary nonpolyposis colorectal cancer (HNPCC), also called Lynch syndrome. Less frequent are familial adenomatous polyposis coli (FAP) and the hamartomatous polyposis syndromes (Peutz–Jeghers syndrome and juvenile polyposis syndrome). Multiple colorectal adenoma syndrome (MAP) is inherited in an autosomal recessive manner and is an important differential diagnosis for Lynch syndrome and attenuated FAP. In all of these syndromes, individuals have a higher risk of developing CRC as well as a broad spectrum of malignancies outside the colorectum. With the identification of genetic background associated with hereditary CRC, at-risk persons now have the chance to know their individual risk before they develop malignancies.     

Life-threatening gastrointestinal hemorrhage due to juvenile polyposis

A 14-yr-old, previously healthy boy presented with massive lower GI hemorrhage. After the routine endoscopic and radiological evaluation, laparotomy and intraoperative colonoscopy revealed multiple polyps in the colon. A hemicolectomy was performed because of the severity of hemorrhage. A diagnosis of juvenile polyposis was made based upon histological findings and the family history. This is an extremely unusual presentation of juvenile polyposis and has been reported only once before. The clinical features, diagnosis, and therapeutic options for juvenile polyposis are discussed. Juvenile polyposis, although a rare condition in the pediatric population, should be considered in the differential diagnosis of life-threatening GI hemorrhage.     

Neoplasia in ileal pouch mucosa after total proctocolectomy for juvenile polyposis

PURPOSE: Patients treated with restorative proctocolectomy for familial adenomatous polyposis or ulcerative colitis occasionally develop disease in the ileal pouch similar to that originally present in the colon. We investigated the possibility of analogous involvement in the ileal pouch of juvenile polyposis patients. METHODS: Endoscopic surveillance for neoplasia throughout the gastrointestinal tract was performed, with retrieval of all polypectomy specimens for histologic classification using the criteria of Morson. RESULTS: Multiple large juvenile polyps were found in the ileal pouch of one patient less than 10 years after restorative proctocolectomy for hereditary juvenile polyposis. The pouch was much more severely affected than the proximal ileum, small intestine, or stomach. Although most polyps had a completely benign histologic appearance, three had moderate to severe dysplasia. DISCUSSION: Mucosal changes induced by bacteria or stasis of luminal contents may promote manifestation in the ileal pouch of the disease phenotype usually more evident in the colon. Patients with severe or generalized juvenile polyposis should be considered for periodic endoscopic surveillance of the ileal pouch beginning several years after restorative proctocolectomy. Supported by National Institutes of Health Grants P30 CA14520 and U01 CA59352, Bethesda, Maryland, and a Merit Review grant to Dr. Stoltenberg from the United States Department of Veteran's Affairs, Washington, D.C.     

Familial juvenile polyposis coli; increased risk of colorectal cancer.

Six patients from one family and one solitary patient with juvenile polyposis coli are described. The histological changes in colonic polyps formed a spectrum from juvenile polyps, through focal to extensive adenomatous change, to adenocarcinomas. One patient aged 49 years had an adenocarcinoma of the colon and in another, aged 33, with rectal polyps and metastatic cancer this was suspected although the primary tumour was not located. Two additional patients, aged 19 and 41 years, had severe adenomatous dysplasia in a juvenile polyp. Four patients also had gastroduodenal polyps. The present findings clearly contradict the previous view that juvenile polyposis coli is not premalignant and only rarely needs surgical treatment. As other recent reports also describe frequent occurrence of neoplastic changes in juvenile polyps, colectomy, and ileorectostomy at the age of about 20 years is recommended as the treatment of choice for juvenile polyposis coli, as in patients with familial adenomatosis coli. Follow up should ideally include gastroduodenoscopy and inspection of the rectal remnant at regular intervals.