Melena Revealing an Attenuated Familial Adenomatous Polyposis in an Elderly Patient: A Case Report

We describe a patient who was diagnosed with multiple tubulleuvillous adenomas with focus of high-grade tubular dysplasia all over the colonic mucosa, discovered during a colonoscopy performed during an episode of melena. Genetic testing has identified a germline truncating mutation at the codon (5q22.2) of the adenomatous polyposis (APC) gene. This mutation is localized in the alternately spliced region of exon 12, a region which is associated with an attenuated familial adenomatous polyposis (PAFA) phenotype. Our patient had no extracolic manifestations of PAFA and none of her relatives had a history of rectocolic polyposis. Treatment consisted of colectomy with ileorectal anastomosis. PAFA is an ill-defined condition of unknown prevalence and penetrance, requiring individual treatment and lifelong monitoring. It is essential to identify these patients with a view to setting up appropriate endoscopic surveillance at an early age in family members carrying this mutation, due to the marked intra-family phenotypic variance.

Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis

Desmoid tumours (DT) are one of the main causes of death in patients with familial adenomatous polyposis (FAP). Surgical trauma is a risk factor for DT, yet a colectomy is inevitable in FAP to prevent colorectal cancer. This systematic review and meta-analysis aimed to synthesize the available evidence on DT risk related to type, approach and timing of colectomy. A search was performed in MEDLINE, EMBASE and the Cochrane Library. Studies were considered eligible when DT incidence was reported after different types, approaches and timing of colectomy. Twenty studies including 6452 FAP patients were selected, all observational. No significant difference in DT incidence was observed after IRA versus IPAA (OR 0.99, 95% CI 0.69–1.42) and after open versus laparoscopic colectomy (OR 0.88, 95% CI 0.42–1.86). Conflicting DT incidences were seen after early versus late colectomy and when analysing open versus laparoscopic colectomy according to colectomy type. Three studies reported a (non-significantly) higher DT incidence after laparoscopic IPAA compared to laparoscopic IRA, with OR varying between 1.77 and 4.09. A significantly higher DT incidence was observed in patients with a history of abdominal surgery (OR 3.40, 95% CI 1.64–7.03, p = 0.001). Current literature does not allow to state firmly whether type, approach, or timing of colectomy affects DT risk in FAP patients. Fewer DT were observed after laparoscopic IRA compared to laparoscopic IPAA, suggesting laparoscopic IRA as the preferred choice if appropriate considering rectal polyp burden. PROSPERO registration number CRD42020161424.

Two-time perforation of the ileal J-pouch 6 and 18 years after restorative proctocolectomy and ileal pouch–anal anastomosis for familial adenomatous polyposis: a case report

Background Perforation of the ileal J-pouch after restorative proctocolectomy and ileal pouch–anal anastomosis are extremely rare. There has been no report of perforation of the ileal J-pouch occurring twice over several years. We report the first case of perforation at 6 and 18 years following restorative proctocolectomy. Case presentation The patient was a 52-year-old man who underwent a two-stage restorative proctocolectomy with a hand-sewn ileal J-pouch anal anastomosis due to familial adenomatous polyposis and sigmoid colon cancer at 34 years of age. At the age of 40, he underwent ileal pouch resection at its blind end, abdominal drainage, and anastomotic dilatation. The patient had a perforation of the blind end of the ileal J-pouch from increased intraluminal pressure, with anastomotic stricture and pervasive peritonitis. The patient had no symptoms for a few years; however, 18 years after the initial surgery and 12 years after the first perforation, the patient presented with severe abdominal pain. Computed tomography demonstrated pneumoperitoneum; accordingly, laparotomy was performed. Upon opening the abdominal cavity, contaminated ascites and inflammatory changes were documented involving the ileum. A 2-mm perforation involving the blind end of the ileal J-pouch was also observed and repaired, followed by temporary loop ileostomy creation. Postoperative endoscopy revealed an ulcer in the ileal J-pouch and a stricture located directly at the anastomosis. Conclusions The blind end of the J-pouch repeatedly perforated over the years due to recurrent anastomotic stricture. Regular surveillance is, therefore, considered necessary for the release of stricture, maintenance of anastomotic patency, and prevention of ileal J-pouch perforation.

The association of ectopic craniopharyngioma in the fourth ventricle with familial adenomatous polyposis: illustrative case

BACKGROUND Craniopharyngioma (CP) often arises in the sellar and suprasellar areas; ectopic CP in the posterior fossa is rare. Familial adenomatous polyposis (FAP) is a genetic disorder involving the formation of numerous adenomatous polyps in the gastrointestinal tract, and it is associated with other extraintestinal manifestations. OBSERVATIONS The authors reported the case of a 63-year-old woman with FAP who presented with headache and harbored a growing mass in the fourth ventricle. Magnetic resonance imaging (MRI) findings revealed a well-circumscribed mass with high intensity on T1-weighted images and low intensity on T2-weighted images and exhibited no contrast enhancement. Gross total resection was performed and histopathology revealed an adamantinomatous CP (aCP). The authors also reviewed the previous reports of ectopic CP in the posterior fossa and found a high percentage of FAP cases among the ectopic CP group, thus suggesting a possible association between the two diseases. LESSONS An ectopic CP may be reasonably included in the differential diagnosis in patients with FAP who present with well-circumscribed tumors in the posterior fossa.

Hereditary Colorectal Cancer and Polyposis Syndromes

The majority of cases of inherited colorectal cancer (CRC) are accounted for by two syndromes: Lynch syndrome and familial adenomatous polyposis (FAP). In the management of FAP, the role of prophylactic surgery is clearly defined, although the optimal procedure for an individual patient depends on a number of factors. In the management of Lynch syndrome, the indications for prophylactic procedures are emerging. The authors address the clinical evaluation, investigation findings, medical and surgical therapy, and extracolonic diseases of FAP, attenuated form of FAP (AFAP), MYH-associated polyposis, Lynch syndrome, familial colorectal cancer type X (FCCTX), hyperplastic polyposis syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. AFAP has been described that is associated with fewer adenomas and later development of CRC compared with classic FAP. The AFAP phenotype occurs in less than 10% of FAP patients. The clinical criteria for AFAP are no family members with more than 100 adenomas before the age of 30 years and (1) at least two patients with 10 to 99 adenomas at age over 30 years or (2) one patient with 10 to 99 adenomas at age over 30 years and a first-degree relative with CRC with few adenomas. Given that polyposis has a later onset and the risk of CRC is less well established in AFAP, some authors question whether prophylactic colectomy is necessary in all AFAP patients. This review contains 26 tables and 173 references Keywords: Colorectal cancer, Lynch syndrome, hyperplastic polyp, Peutz-Jeghers syndrome, juvenile polyposis syndrome, familial adenomatous polyposis

HISTOPATOLOGIA DA POLIPOSE ADENOMATOSA FAMILIAR E SUA ASSOCIAÇÃO COM O ADENOCARCINOMA COLORRETAL

Introdução: Adenomas são lesões precursoras com potencial evolutivo para malignidade entre 5 e 15 anos. Doenças como a polipose adenomatosa familiar (PAF) aumentam o risco de desenvolvimento do câncer colorretal. Objetivos: Descrever a histologia colorretal, correlacionando à PAF e sua evolução para adenocarcinoma colorretal. Material e métodos: Pesquisa bibliográfica nas bases Pubmed e Scielo, com os descritores: “familial adenomatous polyposis” e “colorectal neoplasms”. Foram utilizados: Robbins Patologia Básica 9ª Ed.; Junqueira e Carneiro Histologia Básica 13ª Ed. Resultados: O intestino grosso possui mucosa de tecido epitelial simples cilíndrico com células caliciformes e criptas de Lieberküng, lâmina própria de tecido conjuntivo frouxo e muscular da mucosa. A submucosa contém tecido conjuntivo denso e plexo de Meissner. A muscular própria possui duas subcamadas musculares lisas: circular interna, longitudinal externa, e plexo de Auerbach. Por fim, a serosa/adventícia possui tecido conjuntivo frouxo e adiposo. A PAF é uma doença autossômica dominante caracterizada pelo desenvolvimento de adenomas entéricos. Ela resulta da mutação no supressor tumoral adenomatous polyposis coli, responsável pela estabilidade genômica e apoptose. Se não tratados precocemente, 100% dos pacientes acometidos desenvolverá câncer colorretal. Na forma clássica, apresenta inúmeros adenomas, que evoluem para câncer rapidamente. Na atenuada, há menos adenomas, menor agressividade e progressão lenta. Estruturalmente, os adenomas são tubulares, vilosos ou túbulo-vilosos, classificação essencial para conhecimento do potencial maligno. A displasia epitelial de baixo grau nos adenomas possui núcleos alongados e pseudoestratificados, com pequenos nucléolos, enquanto a de alto grau apresenta núcleos redondos, estratificação e nucléolo proeminente. No cólon proximal, os adenocarcinomas são polipóides e exofíticos, raramente causando obstrução. Já no distal, são lesões anulares com estreitamento luminal e oclusão. Clinicamente, no cólon direito ocorre anemia ferropriva e no esquerdo sangramento oculto, alterações intestinais e cólicas. Microscopicamente, os adenocarcinomas bem diferenciados possuem células colunares altas, semelhantes aos adenomas, com componente invasivo causador de resposta desmoplásica, ocasionando consistência firme. Os pouco diferenciados formam glândulas e produzem mucina. Ainda, estas neoplasias podem apresentar diferenciação neuroendócrina. Conclusão: As características da PAF explicam sua correlação com o desenvolvimento de carcinomas colorretais. Assim, destaca-se a importância do estudo histopatológico, facilitando a compreensão evolutiva adenomas-câncer neste grupo populacional.