RESUMO
BACKGROUND/AIMS: Serrated polyposis syndrome (SPS) has been shown to increase the risk of colorectal cancer (CRC). However, little is known about the characteristics of Asian patients with SPS. This study aimed to identify the clinicopathological features and risk of CRC in Korean patients with SPS as well as the differences between Korean and Western patients based on a literature review. METHODS: This retrospective study included 30 patients with SPS as defined by World Health Organization classification treated at Samsung Medical Center, Korea, between March 1999 and May 2011. RESULTS: Twenty patients (67%) were male. The median patient age at diagnosis was 56 years (range, 39–76 years). A total of 702 polyps were identified during a median follow-up of 43 months (range, 0–149 months). Serrated polyps were noted more frequently in the distal colon (298/702, 55%). However, large serrated polyps and serrated adenomas were mainly distributed throughout the proximal colon (75% vs. 25% and 81% vs. 19%, respectively); 73.3% had synchronous adenomatous polyps. The incidence of CRC was 10% (3/30 patients), but no interval CRC was detected. A total of 87% of the patients underwent esophagogastroduodenoscopy and 19.2% had significant lesions. CONCLUSIONS: The phenotype of SPS in Korean patients is different from that of Western patients. In Korean patients, SPS is more common in men, there were fewer total numbers of serrated adenoma/polyps, and the incidence of CRC was lower than that in Western patients. Korean patients tend to more frequently have abnormal gastric lesions. However, the prevalence of synchronous adenomatous polyps is high in both Western and Korean patients.
Assuntos
Humanos , Masculino , Adenoma , Pólipos Adenomatosos , Povo Asiático , Classificação , Colo , Neoplasias Colorretais , Diagnóstico , Endoscopia do Sistema Digestório , Seguimentos , Incidência , Coreia (Geográfico) , Fenótipo , Pólipos , Prevalência , Estudos Retrospectivos , Organização Mundial da SaúdeRESUMO
OBJECTIVE: The authors present a case report of hyperplastic polyposis syndrome from the Coloproctology Service, Vitória Apart Hospital, Vitória-ES. CASE STUDY: Our case is a 24-year-old man who suffered from fatigue, malaise and microcytic and hypochromic anemia, whose upper digestive endoscopy presented several hyperplastic polyps in the stomach and whose colonoscopy revealed colonic polyposis mainly in the right colon; the histopathology showed tubular adenoma with moderate atypia in the ascending colon. Thus, a videolaparoscopic right colectomy was performed; the analysis of the surgical fragment showed multiple (more than 30) polyps distributed through the cecum and ascending colon. CONCLUSION: The histopathological diagnosis of hyperplastic polyposis is a challenging task. In general, most polyps are hyperplastic, but serrated and classic adenomas also occur. These associated adenomatous injuries can be the cause of malignant transformation. So far, there is no consensus about the appropriate treatment; however, a colectomy procedure may be beneficial in a scenario of a large number of hyperplastic polyps, concurrent serrated adenomas, or multiple high-risk adenomatous lesions. (AU)
A Síndrome Polipose Hiperplásica (HPS), descrita em 1980, é considerada como a presença de pólipos hiperplásicos múltiplos, grandes e/ou proximais e, ocasionalmente, um número menor de adenomas serrados, adenomas clássicos e pólipos mistos. A grande maioria dos pacientes são assintomáticos, sendo o diagnóstico um achado incidental da colonoscopia. No tocante ao prognóstico, a maioria dos autores considera HPS um achado incidental sem potencial de malignização, porém, estudos recentes têm descrito lesões genéticas sincrônicas à HPS e ao câncer colorretal. OBJETIVO: Os autores apresentam um relato de caso de Síndrome Polipose Hiperplásica do serviço de coloproctologia do Vitória Apart Hospital, Vitória-ES. CASO CLÍNICO: Trata-se de um paciente de 24 anos, masculino, que apresentava fadiga, adinamia e anemia microcitica e hipocrômica que apresentou na Endoscopia Digestiva Alta: diversos pólipos hiperplásicos no estômago e na Colonoscopia: polipose colônica principalmente em cólon direito cujo histopatológico demonstrou adenoma tubular com atipia moderada no ascendente. Para tal foi realizado colectomia direita videolaparoscópica em que a análise da peça mostrou múltiplos pólipos hiperplásicos distribuídos pelo ceco e cólon ascendente, superior a 30. CONCLUSÃO: O diagnóstico histopatológico de HPS é desafiador. Em geral, a maioria dos pólipos são hiperplásicos, mas também ocorrem adenomas serrados e adenomas clássicos. Tais lesões adenomatosas associadas podem ser a causa de transformações malignas. Ainda não há consenso do tratamento adequado, porém, a colectomia pode ser benéfica quando há grande número de pólipos hiperplásicos, adenomas serrados concomitantes ou múltiplas lesões adenomatosas de alto risco. (AU)
Assuntos
Humanos , Masculino , Adulto , Reto/patologia , Colo/patologia , Hiperplasia/diagnóstico , Colonoscopia , Colectomia , EndoscopiaRESUMO
Hyperplastic or serrated polyps were once believed to have little to no clinical significance. A subset of these polyps are now considered to be precursors to colorectal cancers (CRC) in the serrated pathway that may account for at least 15% of all tumors. The serrated pathway is distinct from the two other CRC pathways and involves an epigenetic hypermethylation mechanism of CpG islands within promoter regions of tumor suppressor genes. This process results in the formation of CpG island methylator phenotype tumors. Serrated polyps are divided into hyperplastic polyps, sessile serrated adenomas/polyps (SSA/Ps), and traditional serrated adenomas (TSAs). The SSA/P and the TSA have the potential for dysplasia and subsequent malignant transformation. The SSA/Ps are more common and are more likely to be flat than TSAs. Their flat morphology may make them difficult to detect and thus explain the variation in detection rates among endoscopists. Challenges for endoscopists also include the difficulty in pathological interpretation as well surveillance of these lesions. Furthermore, serrated polyps may be inadequately resected by endoscopists. Thus, it is not surprising that the serrated pathway has been linked with interval cancers. This review will provide the physician or clinician with the knowledge to manage patients with serrated polyps.
Assuntos
Humanos , Proteínas Adaptadoras de Transdução de Sinal/genética , Pólipos Adenomatosos/genética , Colonoscopia , Neoplasias Colorretais/genética , Metilação de DNA , Polipose Intestinal/genética , Pólipos Intestinais/genética , Proteínas Nucleares/genética , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas ras/genéticaRESUMO
Hyperplastic polyposis syndrome (HPS) is a rare condition characterized by the presence of numerous hyperplastic polyps (HPs) in the colon and rectum. Patients with HPS have an increased risk of colorectal cancer. This link is associated with gene mutations, especially B type Raf kinase (BRAF). However, a case of HPS associated with gene mutations has seldom been reported in Korea. Here, we describe a case of HPS in which a BRAF mutation was present in a 34-year-old woman. She had more than 110 HPs in the stomach and colorectum, which we removed. All of the polyps were diagnosed histologically as HPs, and no adenomatous or malignant changes were noted. We performed a BRAF and K-ras mutation analysis as well as a microsatellite analysis on the resected colon polyps. BRAF mutations were found in the resected colon polyps, but there was no evidence of K-RAS mutation or microsatellite instability.
Assuntos
Adulto , Feminino , Humanos , Hidróxido de Alumínio , Carbonatos , Colo , Neoplasias Colorretais , Coreia (Geográfico) , Instabilidade de Microssatélites , Repetições de Microssatélites , Fosfotransferases , Pólipos , Reto , EstômagoRESUMO
BACKGROUND/AIMS: A flexible spectral imaging color enhancement system was installed in new capsule software for video capsule endoscopy. Contrast image capsule endoscopy (CICE) is a novel technology using light-emitting diodes selected for the main absorption range of hemoglobin. We assessed the feasibility and diagnostic effi cacy for small bowel surveillance in patients with polyposis syndromes. METHODS: Six patients with polyposis syndromes, four with familial adenomatous polyposis and one each with Cowden syndrome (CS) and Cronkhite-Canada syndrome (CCS) were examined using CICE. We conducted three evaluations to assess the effect on the numbers of the detected polyps; compare polyp diagnostic rates between adenoma and hamartoma; and assess polyp visibility. RESULTS: The numbers of detected polyps and diagnostic accuracy did not differ signifi cantly between pre-contrast and contrast images. However, 50% of the adenomatous polyps displayed enhanced visibility on contrast images. CICE contrast images exhibited clearly demarcated lesions and improved the visibility of minute structures of adenomatous polyps. Hamartomatous polyp micro-structures in patients with CS and CCS were more clearly visualized on contrast than pre-contrast images. CONCLUSIONS: CICE is an effective tool for enhancing the visibility of polyps in patients with polyposis syndrome.
Assuntos
Humanos , Absorção , Adenoma , Polipose Adenomatosa do Colo , Pólipos Adenomatosos , Cápsulas Endoscópicas , Endoscopia por Cápsula , Síndrome do Hamartoma Múltiplo , Hemoglobinas , Polipose Intestinal , PóliposRESUMO
Background: Familial adenomatous polyposis (FAP) is an inherited colorectal cancer predisposing syndrome that has an autosomal dominant mode of inheritance with complete penetrance. Although the disease-causing gene of FAP, the adenomatous polyposis coli (APC) gene, is well understood, genetic testing for FAP remains uncommon in Thailand, possibly because of its high cost. Objective: Present a family in southern Thailand that had benefited from this test. Subject and methods: The proband was a 31-year-old man who had rectal cancer with profuse adenomatous polyposis of his colon. Results: APC mutation screening revealed a novel mutation at codon 1249 (TGC1249TAA) that could predict a premature stop codon. On screening of three siblings in the same generation who were alive and 11 members of the descendant generation, four cases were positive for the mutation. The positive members were confirmed to have a type of diffuse colonic polyposis by endoscopy, and a prophylactic colectomy was performed without complications for every affected individual. Conclusion: A genetic test is cost-effective. It should be considered for FAP, especially when the number of at-risk family members is high.
RESUMO
A Polipose Juvenil é uma afecção rara e faz parte do grupo das poliposes hamartomatosas familiares (PHF). É uma síndrome autossômica dominante que pode ser desencadeada por mutações no gene SMAD4/DPC4 (que codifica um sinalizador intermediário de TGF-b). Caracteriza-se pelo aparecimento de 10 ou mais pólipos hamartomatosos (juvenis) no trato gastrintestinal, predominando no cólon. Costuma manifestar-se entre 4 e 14 anos de idade. Alguns pólipos adquirem focos adenomatosos apesar da natureza hamartomatosa das lesões e há chance de malignização. Relato de 2 casos de pacientes portadores de Polipose Juvenil colônica associada a focos de adenoma com displasia e revisão da literatura.
Juvenile Polyposis Syndrome is a rare disease and is included in the Hamartomatous Familial Polyposis's (HFP) group. It's an autosomal dominant syndrome which can be determinated by SMAD4/DPC4 germline mutations (which codifies an intermediary mediator of TGF-b). It's characterized by 10 or more hamartomatous polyps (juveniles) throughout the gastrointestinal tract, especially in the colon. The symptoms usually appears between the ages of 4 and 14 years old. Some polyps can acquire adenomatous changes despite the lesion's hamartomatous nature and there's chance of colorectum malignization. Case report of two patients with Juvenile Polyposis coli associated to adenomatous changes with dysplasia and literature review.
Assuntos
Humanos , Masculino , Feminino , Criança , Adulto , Mutação/genética , Pólipos do Colo/patologia , Polipose Adenomatosa do Colo/patologiaRESUMO
PURPOSE: Colonic polyposis is less common in children than in adults. The clinical data pertaining to colonic polyposis in children are limited. Children with colonic polyposis have complications associated with numerous polyps, malignant transformation of the polyps, and extraintestinal neoplasms. We studied the clinical spectrum, endoscopic characteristics, and histologic findings of colonic polyposis in Korean children. METHODS: We reviewed the clinical data of 37 children with multiple colonic polyps between 1987 and 2009. The mean age at the time of diagnosis of colonic polyposis was 8.0+/-3.2 years. RESULTS: Peutz-Jeghers syndrome, juvenile polyposis syndrome, familial adenomatous polyposis (FAP), and lymphoid polyposis was diagnosed in 22, 7, 6, and 2 children, respectively. The most common clinical presentation in children with colonic polyposis was hematochezia. A family history of colonic polyposis was noted in 7 children. The colonoscopic findings of colonic polyposis varied with the size and number of polyps. The majority of polyps were multi-lobulatd and pedunculated in children with Peutz-Jeghers syndrome. The polyps in children with juvenile polyposis syndrome were primarily round and pedunculated. For the children with FAP, the colon was carpeted with small, sessile polyps. There were multiple sessile polyps in the patients with lymphoid polyposis. Surgical polypectomy was performed in 14 children (38%). Intestinal segmental resection was performed in 13 children (35%). Four patients with FAP underwent total colectomy. Four children with Peutz-Jeghers syndrome had extraintestinal neoplasms. No malignant transformation of polyp was identified. CONCLUSION: Children with colonic polyposis should undergo a careful initial evaluation and require periodic re-evaluation.
Assuntos
Adulto , Criança , Humanos , Polipose Adenomatosa do Colo , Colectomia , Colo , Pólipos do Colo , Endoscopia , Pisos e Cobertura de Pisos , Hemorragia Gastrointestinal , Polipose Intestinal , Síndromes Neoplásicas Hereditárias , Síndrome de Peutz-Jeghers , PóliposRESUMO
PURPOSE: Colonic polyposis is less common in children than in adults. The clinical data pertaining to colonic polyposis in children are limited. Children with colonic polyposis have complications associated with numerous polyps, malignant transformation of the polyps, and extraintestinal neoplasms. We studied the clinical spectrum, endoscopic characteristics, and histologic findings of colonic polyposis in Korean children. METHODS: We reviewed the clinical data of 37 children with multiple colonic polyps between 1987 and 2009. The mean age at the time of diagnosis of colonic polyposis was 8.0+/-3.2 years. RESULTS: Peutz-Jeghers syndrome, juvenile polyposis syndrome, familial adenomatous polyposis (FAP), and lymphoid polyposis was diagnosed in 22, 7, 6, and 2 children, respectively. The most common clinical presentation in children with colonic polyposis was hematochezia. A family history of colonic polyposis was noted in 7 children. The colonoscopic findings of colonic polyposis varied with the size and number of polyps. The majority of polyps were multi-lobulatd and pedunculated in children with Peutz-Jeghers syndrome. The polyps in children with juvenile polyposis syndrome were primarily round and pedunculated. For the children with FAP, the colon was carpeted with small, sessile polyps. There were multiple sessile polyps in the patients with lymphoid polyposis. Surgical polypectomy was performed in 14 children (38%). Intestinal segmental resection was performed in 13 children (35%). Four patients with FAP underwent total colectomy. Four children with Peutz-Jeghers syndrome had extraintestinal neoplasms. No malignant transformation of polyp was identified. CONCLUSION: Children with colonic polyposis should undergo a careful initial evaluation and require periodic re-evaluation.
Assuntos
Adulto , Criança , Humanos , Polipose Adenomatosa do Colo , Colectomia , Colo , Pólipos do Colo , Endoscopia , Pisos e Cobertura de Pisos , Hemorragia Gastrointestinal , Polipose Intestinal , Síndromes Neoplásicas Hereditárias , Síndrome de Peutz-Jeghers , PóliposRESUMO
Cronkhite-Canada syndrome is a very rare syndrome. This non-familial hamartomatous polyposis syndrome is characterized by multiple polyps on the entire gastrointestinal tract, nail dystrophy, skin pigmentation and systemic alopecia. The courses of this syndrome could be classified into five types according to clinical symptoms; diarrhea, taste disturbance, xerostomia, abdominal pain and alopecia. Cronkhite-Canada syndrome has a high mortality rate up to 45~60% due to nutritional absorption disturbance, hypoalbuminemia, recurrent infection, sepsis, heart failure and gastrointestinal bleeding. A pathogenesis of Cronkhite-Canada syndrome is still unknown, and only conservative treatment is available. We diagnosed a 55 years-old female with Cronkhite-Canada syndrome based on the clinical symptoms of nail change, taste disturbance and alopecia, and the histologic finding of polyps in the entire gastrointestinal tract; these polyps were found in the stomach, small intestine and large intestine via capsule endoscopy. We report on this case and we review the relevant medical literature.
Assuntos
Feminino , Humanos , Dor Abdominal , Absorção , Alopecia , Endoscopia por Cápsula , Diarreia , Trato Gastrointestinal , Insuficiência Cardíaca , Hemorragia , Hipoalbuminemia , Polipose Intestinal , Intestino Grosso , Intestino Delgado , Unhas , Pólipos , Sepse , Pigmentação da Pele , Estômago , XerostomiaRESUMO
Juvenile Polyposis Syndrome is a rare condition that is characterized by the development of multiple polyps in the gastrointestinal tract. It is a hamartomatous disorder that was first described in families in 1964. Both sporadic and familial cases with autosomal dominant inheritance have been reported on. Juvenile Polyposis Syndrome is regarded as a distinct from the solitary juvenile polyps that develop in 2% of children and adolescents, and the latter have no malignant potential. We report here on a case of Juvenile Polyposis Syndrome in an 18 year old male along with a review of the relevant literature. The patient had various numbers of different sized pedunculated polyps that were observed throughout the entire gastrointestinal tract.
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Adolescente , Criança , Humanos , Masculino , Trato Gastrointestinal , Polipose Intestinal , Síndromes Neoplásicas Hereditárias , Pólipos , TestamentosRESUMO
Turcot's syndrome is a rare hereditary disease marked by the association of central nervous system neuroepithelial tumor with colonic polyposis. Authors report herein a case of a 15-year-old girl diagnosed as having Turcot's syndrome, otherwise known as brain tumor-polyposis syndrome, combined with sigmoid colon cancer. The patient was carried out craniostomy and brain tumor removal. The tumor was confirmed histologically to be oligodendroglioma. The patient visited the department of internal medicine for bloody diarrhea during 6 months. Colonoscopy and biopsy was done. The patient was diagnosed as having Turcot's syndrome combined with sigmoid colon cancer, and was then transferred to the department of surgery for treatment of sigmoid colon cancer. Total proctocolectomy and IPAA (ileal pouch-anal anastomosis) was carried out. Multiple polyps were found in the colon, two large masses were confirmed histologically to be adenocarcinoma. The remaining polyps were adenomas. This case report describes the characteristic features of Turcot's syndrome presented by this patient.
Assuntos
Adolescente , Feminino , Humanos , Adenocarcinoma , Adenoma , Biópsia , Encéfalo , Neoplasias Encefálicas , Sistema Nervoso Central , Colo , Neoplasias do Colo , Colonoscopia , Diarreia , Doenças Genéticas Inatas , Medicina Interna , Neoplasias Neuroepiteliomatosas , Oligodendroglioma , Pólipos , Neoplasias do Colo SigmoideRESUMO
Objective To summarize the clinical data of 45 cases of familial adenomatous polyposis(FAP) and the experiences of treatment and diagnosis of FAP. Methods Retrospectively analyzed of the clinical data was made on 45 FAP patients.The choice of operative procedure included total colectomy+ileostomy in 25 cases,subtotal colectomy+rectal polyposis electrocautery in 15,and total colectomy with ileo-anal anastomosis in 5. Results Average age of patients at first diagnosis was 33.5 years. A family history was found in 35 patients. Bleeding, diarrhea, pain are common clinical presentations, and the numbers of polyposis were all more than 100. All patients without malignant change survived for 3-21years;and metastasis of liver was the main cause of death in patients with malignant change. There were age differences between malignant and non malignant group. Conclusions FAP lacks typical clinical presentation, and misdiagnosis is not uncommon. Surgical therapy should be done on an individual basis and according to the actual condition of patients.