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1.
J Med Case Rep ; 18(1): 415, 2024 Sep 08.
Artículo en Inglés | MEDLINE | ID: mdl-39244621

RESUMEN

BACKGROUND: Familial adenomatous polyposis is characterized by the presence of multiple colorectal adenomatous polyps and caused by germline mutations in the tumor suppressor gene and adenomatous polyposis coli, located on chromosome 5q21-q22. Familial adenomatous polyposis occurs in approximately 1/10,000 to 1/30,000 live births, and accounts for less than 1% of all colorectal cancers in the USA. It affects both sexes equally and has a worldwide distribution. The incidence of colon cancer in low- and middle-income countries is rising. In addition to the increasing incidence, lack of early detection and impeded access to optimal multidisciplinary treatment may worsen survival outcomes. Developing quality diagnostic services in the proper health context is crucial for early diagnosis and successful therapy of patients with colorectal cancer, and applying a resource-sensitive approach to prioritize essential treatments on the basis of effectiveness and cost-effectiveness is key to overcoming barriers in low- and middle-income countries. We report a case of familial adenomatous polyposis presenting as adenocarcinoma with multiple colorectal adenomatous polyps. The diagnosis of familial adenomatous polyposis was made by the presence of numerous colorectal adenomatous polyps and family history of colonic adenocarcinoma. Due to its rarity, we decided to report it. CASE PRESENTATION: A 22-year-old Ethiopian female patient presented to Addis Ababa University College of Health science, Addis Ababa, Ethiopia with rectal bleeding. Abdominopelvic computed tomography scan was done and showed distal rectal asymmetric anterior wall thickening in keeping with rectal tumor. Colonoscopy was done and she was diagnosed to have familial adenomatous polyposis with severe dysplasia. In the meantime, colonoscopy guided biopsy was taken and the diagnosis of adenocarcinoma with familial adenomatous polyposis was rendered. For this, total proctocolectomy was carried out. On laparotomy there was also incidental finding of left ovarian deposition for which left salpingo-oophorectomy was done, and 4 weeks after surgical resection, the patient was started on oxaliplatin, leucovorin, fluorouracil chemotherapy regimen. CONCLUSION: In the clinical evaluation of a patient with rectal bleeding, familial adenomatous polyposis must be considered as a differential diagnosis in subjects having family history of colonic adenocarcinoma for early diagnostic workup, management, family genetic counseling, and testing.


Asunto(s)
Poliposis Adenomatosa del Colon , Humanos , Poliposis Adenomatosa del Colon/diagnóstico , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/terapia , Femenino , Adulto Joven , Adenocarcinoma/diagnóstico , Colonoscopía , Hemorragia Gastrointestinal/etiología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Fluorouracilo/uso terapéutico , Leucovorina/uso terapéutico , Etiopía
3.
Endocr Pract ; 30(8): 726-730, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38782203

RESUMEN

BACKGROUND: Patients with familial adenomatous polyposis (FAP) have an increased risk of thyroid nodular disease. Previous studies demonstrated that screening thyroid ultrasound (US) will allow detection of nodules in 38% and thyroid cancer in 2.6% of patients. The aim of this study is to define the value of serial US evaluation at identifying disease progression in patients with FAP. METHODS: Retrospective review from 2008 to 2023 at a single referral center. All patients with FAP and screening thyroid US were included. Patient demographics, initial US characteristics, follow-up regarding the development of new nodules and cancer were assessed using a Kaplan-Meier analysis. RESULTS: A total of 556 patients underwent screening. Fifty percent were male. Median age at first screening was 38 year old. Eighty percent underwent longitudinal follow-up for a median length of 7 years. At initial screening, 169 patients (30%) had nodules. For patients with normal baseline US, 14% developed a nodule overtime. A total of 20 patients (3.6%) were diagnosed with thyroid cancer. The cumulative incidence of initial and subsequent cancer was 4% by 5 years and 6% by 10 years, while the cumulative incidence of thyroid nodules was 40% and 48%, respectively. CONCLUSIONS: Based on the Kaplan-Meier analysis, ongoing longitudinal screening is warranted for patients with FAP as they are prone to thyroid cancer and nodule development overtime even when presenting with a baseline normal US. Additionally, these data demonstrate a slow development of thyroid cancer from a normal US, thus it is reasonable to consider selectively extending the screening interval for this population.


Asunto(s)
Poliposis Adenomatosa del Colon , Progresión de la Enfermedad , Neoplasias de la Tiroides , Nódulo Tiroideo , Ultrasonografía , Humanos , Poliposis Adenomatosa del Colon/epidemiología , Poliposis Adenomatosa del Colon/diagnóstico , Poliposis Adenomatosa del Colon/complicaciones , Masculino , Femenino , Adulto , Estudios Retrospectivos , Nódulo Tiroideo/epidemiología , Nódulo Tiroideo/patología , Nódulo Tiroideo/diagnóstico , Nódulo Tiroideo/diagnóstico por imagen , Persona de Mediana Edad , Neoplasias de la Tiroides/epidemiología , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/patología , Neoplasias de la Tiroides/diagnóstico por imagen , Adulto Joven , Incidencia , Estudios de Seguimiento
4.
Wiad Lek ; 77(2): 338-344, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38592998

RESUMEN

OBJECTIVE: Aim: To explore the prevalence, clinical characteristics, and diagnostic aspects of diffuse familial adenomatous polyposis in childhood. This objective is accomplished through an extensive review of recent literature, and the presentation of case report from our clinical practice. PATIENTS AND METHODS: Materials and Methods: We analyzed 75 scientific papers, the findings of which have been documented in the PubMed database. Our search criteria included keywords such as ≪diffuse familial adenomatous intestinal polyposis,≫ ≪children,≫ and ≪diagnosis.≫ Then we conducted a second-stage analysis that involved a detailed review of a practical case - the medical records of inpatient Kh.V. who had been diagnosed with familial adenomatous polyposis. CONCLUSION: Conclusions: The analysis of the literature data is consistent with the findings from our clinical observations of familial adenomatous polyposis in a patient with complicated family anamnesis. It is worth noting that clinical features do not significantly differ across various types of polyposis. In cases of suspected familial adenomatous polyposis in adolescents, genetic testing is crucial.


Asunto(s)
Poliposis Adenomatosa del Colon , Adolescente , Humanos , Poliposis Adenomatosa del Colon/diagnóstico , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/genética , Intestinos , Pruebas Genéticas
5.
Gan To Kagaku Ryoho ; 51(3): 334-335, 2024 Mar.
Artículo en Japonés | MEDLINE | ID: mdl-38494823

RESUMEN

Desmoid-type fibromatosis is a relatively rare disease, often associated with familial adenomatous polyposis and a history of abdominal surgery. A 43-year-old male patient presented with abdominal pain and contrast-enhanced CT showed a mass in the lower abdomen. The mass was a 4×4×3 cm white, dense tumor with a wreath-like arrangement of eosinophilic spindle-shaped cells. Immunostaining showed KIT(-), CD34(-), desmin(-), ß-catenin(+), SMA(few+), and the diagnosis was desmoid-type fibrosis. Six months after surgery, there was no apparent recurrence.


Asunto(s)
Poliposis Adenomatosa del Colon , Fibromatosis Abdominal , Fibromatosis Agresiva , Masculino , Humanos , Adulto , Fibromatosis Agresiva/cirugía , Fibromatosis Agresiva/diagnóstico , Poliposis Adenomatosa del Colon/cirugía , Poliposis Adenomatosa del Colon/complicaciones , Mesenterio/cirugía , Mesenterio/patología , Dolor Abdominal , Intestino Delgado/cirugía , Intestino Delgado/patología , Fibromatosis Abdominal/cirugía
7.
Cancer Lett ; 589: 216822, 2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38521200

RESUMEN

Familial adenomatous polyposis (FAP) is a heritable disease that increases the risk of colorectal cancer (CRC) development because of heterozygous mutations in APC. Little is known about the microenvironment of FAP. Here, single-cell RNA sequencing was performed on matched normal tissues, adenomas, and carcinomas from four patients with FAP. We analyzed the transcriptomes of 56,225 unsorted single cells, revealing the heterogeneity of each cell type, and compared gene expression among tissues. Then we compared the gene expression with that of sporadic CRC. Furthermore, we analyzed specimens of 26 FAP patients and 40 sporadic CRC patients by immunohistochemistry. Immunosuppressiveness of myeloid cells, fibroblasts, and regulatory T cells was upregulated even in the early stages of carcinogenesis. CD8+ T cells became exhausted only in carcinoma, although the cytotoxicity of CD8+ T cells was gradually increased according to the carcinogenic step. When compared with those in the sporadic CRC microenvironment, the composition and function of each cell type in the FAP-derived CRC microenvironment had differences. Our findings indicate that an immunosuppressive microenvironment is constructed from a precancerous stage in FAP.


Asunto(s)
Adenoma , Poliposis Adenomatosa del Colon , Neoplasias Colorrectales , Humanos , Linfocitos T CD8-positivos/patología , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/genética , Poliposis Adenomatosa del Colon/patología , Proteína de la Poliposis Adenomatosa del Colon/genética , Carcinogénesis , Neoplasias Colorrectales/genética , Neoplasias Colorrectales/patología , Microambiente Tumoral
8.
Dis Colon Rectum ; 67(S1): S91-S98, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38422398

RESUMEN

BACKGROUND: IPAA is often required for patients with ulcerative colitis or familial adenomatous polyposis after colectomy. This procedure reduces but does not completely eliminate the risk of neoplasia. OBJECTIVE: This study focuses on the histopathology of neoplasia in the ileal pouch, rectal cuff, and anal transition zone. DATA SOURCES: We performed a MEDLINE search for English-language studies published between 1981 and 2022 using the PubMed search engine. The terms "ileal pouch-anal anastomosis," "pouchitis," "pouch dysplasia," "pouch lymphoma," "pouch squamous cell carcinoma," "pouch adenocarcinoma," "pouch neoplasia," "dysplasia of rectal cuff," and "colitis-associated dysplasia" were used. STUDY SELECTION: Human studies of neoplasia occurring in the pouch and para-pouch were selected, and the full text was reviewed. Comparisons were made within and across studies, with key concepts selected for inclusion in this article. CONCLUSIONS: Neoplasia in the pouch is a rare complication in patients with IPAA. Annual endoscopic surveillance is recommended for familial adenomatous polyposis patients and ulcerative colitis patients with a history of prior dysplasia or carcinoma. In familial adenomatous polyposis, dysplastic polyps of the pouch are visible and readily amenable to endoscopic removal; however, glandular dysplasia in the setting of ulcerative colitis may be invisible on endoscopy. Therefore, random biopsies and adequate tissue sampling of the pouch and rectal cuff are recommended in this setting. The histological diagnosis of IBD-associated dysplasia can be challenging and should be confirmed by at least 1 expert GI pathologist. See video from the symposium.


Asunto(s)
Poliposis Adenomatosa del Colon , Reservorios Cólicos , Proctocolectomía Restauradora , Humanos , Poliposis Adenomatosa del Colon/patología , Poliposis Adenomatosa del Colon/cirugía , Poliposis Adenomatosa del Colon/complicaciones , Reservorios Cólicos/efectos adversos , Reservorios Cólicos/patología , Proctocolectomía Restauradora/efectos adversos , Colitis Ulcerosa/patología , Colitis Ulcerosa/complicaciones , Colitis Ulcerosa/cirugía , Reservoritis/patología , Reservoritis/etiología , Reservoritis/diagnóstico , Adenocarcinoma/patología , Adenocarcinoma/etiología , Adenocarcinoma/cirugía , Enfermedades Inflamatorias del Intestino/patología , Enfermedades Inflamatorias del Intestino/complicaciones
9.
Orphanet J Rare Dis ; 19(1): 88, 2024 Feb 25.
Artículo en Inglés | MEDLINE | ID: mdl-38403687

RESUMEN

BACKGROUND AND AIMS: Metformin has been reported to inhibit the occurrence and development of colorectal cancer (CRC) by mediating changes in intestinal flora. Studies have also indicated that the occurence of familial adenomatous polyposis (FAP) may also be associated with changes in the intestinal flora. Therefore, we investigated the efficacy and safety of metformin in treating FAP and the association with intestinal flora. RESULTS: Compared with the baseline, the mean number and load of polyps in the areas of nanocarbon labeling and postoperative residuals in the test group were lower than those in the placebo group, while the diversity of intestinal flora species was increased. At the genus level, the relative abundance of g_Ruminococcus in the test group was lower than that at baseline, whereas the relative abundance of g_Lactobacillus was higher. These changes were statistically significant (P < 0.05). CONCLUSION: One-year metformin therapy for FAP is safe and effective, potentially mediated by modulating the intestinal flora. This study provides new insights and strategies for preventing adenomatous polyp carcinogenesis in FAP and explores possible preventive action.


Asunto(s)
Poliposis Adenomatosa del Colon , Microbioma Gastrointestinal , Humanos , Poliposis Adenomatosa del Colon/tratamiento farmacológico , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/epidemiología , Resultado del Tratamiento , Estudios Prospectivos , Método Doble Ciego
11.
J Gastroenterol ; 59(3): 187-194, 2024 03.
Artículo en Inglés | MEDLINE | ID: mdl-38263336

RESUMEN

BACKGROUND: Patients with familial adenomatous polyposis (FAP) have an increased risk of developing gastric neoplasms. However, the clinical course of FAP with these gastric lesions has not yet been fully clarified. The present study aimed to clarify the changes in the incidence risk of developing gastric adenoma or gastric cancer during the lifespan of patients with FAP. METHODS: Four hundred forty-three patients with data regarding gastric adenoma and gastric cancer retrospectively registered in a nationwide Japanese multicenter study were enrolled. The cumulative incidences and hazard rates (HRs) of gastric neoplasms were evaluated. RESULTS: The cumulative incidence rates in 50-year-old patients with FAP were 22.8% for gastric adenoma and 7.6% for gastric cancer, respectively. No significant association was found between gastric neoplasms and the colonic phenotype. The peak age for the HR of gastric adenoma was 65 years, with the highest HR (0.043). Regarding the incidence of gastric cancer, the HR increased moderately up to the age of 40 years, but the increase accelerated from the age of 50 years (HR = 0.0067). CONCLUSION: Careful surveillance of the upper gastrointestinal tract in elderly patients with FAP, such as shortening the interval of follow-up according to age, may be helpful for early diagnosis of gastric cancer.


Asunto(s)
Adenocarcinoma , Poliposis Adenomatosa del Colon , Pólipos Adenomatosos , Neoplasias Gástricas , Humanos , Anciano , Adulto , Persona de Mediana Edad , Neoplasias Gástricas/etiología , Neoplasias Gástricas/genética , Japón/epidemiología , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/epidemiología , Poliposis Adenomatosa del Colon/genética , Adenocarcinoma/epidemiología , Adenocarcinoma/etiología , Adenocarcinoma/patología
12.
Dis Colon Rectum ; 67(3): 427-434, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38064246

RESUMEN

BACKGROUND: Prophylactic surgery for familial adenomatous polyposis has evolved over several decades. Restorative proctocolectomy with IPAA provides an alternative to total abdominal colectomy with ileorectal anastomosis. We have previously shown that the rate of proctectomy and rectal cancer after total abdominal colectomy with ileorectal anastomosis in the "pre-pouch era" was 32% and 13%, respectively. OBJECTIVE: To determine the rate of proctectomy and rectal cancer among familial adenomatous polyposis patients and relative rectal sparing (fewer than 20 rectal polyps) selected for total abdominal colectomy with ileorectal anastomosis in the modern era. DESIGN: Retrospective cohort study. SETTING: Single tertiary care institution with a hereditary colorectal cancer registry. PATIENTS: Patients with familial adenomatous polyposis who underwent total abdominal colectomy with ileorectal anastomosis between 1993 and 2020. MAIN OUTCOME MEASURES: Incidence of proctectomy for any indication and rectal cancer. RESULTS: A total of 197 patients with a median age of 24 years (range, 10-67) were included. The median follow-up after total abdominal colectomy with ileorectal anastomosis was 13 years (interquartile range, 6-17). Sixteen patients (8%) underwent proctectomy. Indications included rectal cancer in 6 patients (3%; 2 stage I and 4 stage III), polyps with high-grade dysplasia in 4 (2%), progressive polyp burden in 3 (1.5%), defecatory dysfunction in 2 (1%), and anastomotic leak in 1 (0.5%). Among 30 patients (18%) with 20 or more rectal polyps at the time of total abdominal colectomy with ileorectal anastomosis, 8 patients (26%) underwent proctectomy and 3 patients developed rectal cancer (10%). Among 134 patients (82%) with fewer than 20 polyps, 8 patients (6%) underwent proctectomy and 3 patients developed rectal cancer (2%). Number of rectal polyps at the time of total abdominal colectomy with ileorectal anastomosis was associated with the likelihood of proctectomy (OR 1.1, p < 0.001) but not incident rectal cancer ( p = 0.3). LIMITATION: Retrospective data collection. CONCLUSIONS: Patients with familial adenomatous polyposis selected for total abdominal colectomy with ileorectal anastomosis by rectal polyp number have low rates of proctectomy and rectal cancer compared to historical controls. With appropriate selection criteria and surveillance, total abdominal colectomy with ileorectal anastomosis remains an important and safe treatment option for patients with familial adenomatous polyposis. See Video Abstract . RIESGO DE PROCTECTOMA DESPUS DE ANASTOMOSIS ILEORRECTAL EN POLIPOSIS ADENOMATOSA FAMILIAR EN LA ERA MODERNA: ANTECEDENTES:La cirugía profiláctica para la poliposis adenomatosa familiar (PAF) ha evolucionado durante varias décadas. La proctocolectomía restauradora con anastomosis anal con bolsa ileal (IPAA) proporciona una alternativa a la colectomía abdominal total con anastomosis ileorrectal (TAC/IRA). Anteriormente hemos demostrado que la tasa de proctectomía y cáncer de recto después de TAC/IRA en la era "pre-bolsa" era del 32% y el 13%, respectivamente.OBJETIVO:Determinar la tasa de proctectomía y cáncer de recto entre pacientes con PAF y pacientes con preservación rectal relativa (<20 pólipos rectales) seleccionados para TAC/IRA en la era moderna.DISEÑO:Estudio de cohorte retrospectivo.ÁMBITO:Institución única de atención terciaria con un registro de cáncer colorrectal hereditario.PACIENTES:Pacientes con PAF que se sometieron a TAC/IRA entre 1993 y 2020.MEDIDAS DE RESULTADO PRINCIPALES:Incidencia de proctectomía por cualquier indicación y cáncer de recto.RESULTADOS:Se incluyeron 197 pacientes con una mediana de edad de 24 años (rango 10-67). La mediana de seguimiento tras TAC/IRA fue de 13 años (RIC 6-17). 16 pacientes (8%) fueron sometidos a proctectomía. Las indicaciones incluyeron cáncer de recto en 6 (3%) (2 en estadio I y 4 en estadio III); pólipos con displasia de alto grado en 4 (2%); carga progresiva de pólipos en 3 (1,5%), disfunción defecatoria en 2 (1%); y fuga anastomótica en 1 (0,5%). Entre 30 pacientes (18%) con ≥20 pólipos rectales en el momento de TAC/IRA, 8 pacientes (26%) se sometieron a proctectomía y 3 pacientes desarrollaron cáncer de recto (10%). Entre 134 pacientes (82%) con <20 pólipos, 8 pacientes (6%) se sometieron a proctectomía y 3 pacientes desarrollaron cáncer de recto (2%). El número de pólipos rectales en el momento de TAC/IRA se asoció con la probabilidad de proctectomía (OR 1,1, p <0,001), pero no con la incidencia de cáncer de recto (p = 0,3).LIMITACIÓN:Recopilación de datos retrospectivos.CONCLUSIÓN:Los pacientes con PAF seleccionados para TAC/IRA por el número de pólipos rectales tienen tasas bajas de proctectomía y cáncer de recto en comparación con los controles históricos. Con criterios de selección y vigilancia adecuados, TAC/IRA sigue siendo una opción de tratamiento importante y segura para los pacientes con PAF. (Pre-proofed version ).


Asunto(s)
Poliposis Adenomatosa del Colon , Proctectomía , Neoplasias del Recto , Humanos , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Estudios Retrospectivos , Anastomosis Quirúrgica , Neoplasias del Recto/cirugía , Neoplasias del Recto/complicaciones , Poliposis Adenomatosa del Colon/cirugía , Poliposis Adenomatosa del Colon/complicaciones
13.
Gastroenterol Hepatol ; 47(4): 397-400, 2024 Apr.
Artículo en Inglés, Español | MEDLINE | ID: mdl-37597744

RESUMEN

Recently, biallelic MSH3 germline pathogenic/likely pathogenic variants have been recognized as a rare cause of adenomatous polyposis. We present a 49-year-old woman who was admitted to our high-risk colorectal cancer clinic after incidental detection of a biallelic MSH3 (likely) pathogenic variant when tested for the germline (likely) pathogenic variants in hereditary breast and ovarian cancer related genes. The focus of this case report is to describe the genotype and phenotype of our patient with MSH3-related adenomatous polyposis. More than half of the polyps (13/19) were located in the right colon. In addition, benign and malignant extraintestinal lesions may be common as our patient had simple liver and kidney cysts and two basal cell skin carcinomas.


Asunto(s)
Poliposis Adenomatosa del Colon , Pólipos del Colon , Neoplasias Colorrectales , Femenino , Humanos , Persona de Mediana Edad , Pólipos del Colon/genética , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/genética , Genotipo , Fenotipo , Neoplasias Colorrectales/genética , Proteína 3 Homóloga de MutS/genética
14.
Dis Colon Rectum ; 67(2): 273-279, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-36940315

RESUMEN

BACKGROUND: Clinical experience teaches that intraperitoneal adhesions are more severe in patients with familial adenomatous polyposis than in patients without it. This impression may come from the common association of familial adenomatous polyposis with desmoid disease. OBJECTIVES: This study aimed to determine whether patients with familial adenomatous polyposis and desmoid disease develop more severe adhesions than those without desmoid disease. DESIGN: Prospectively collected data study. SETTINGS: Hereditary colorectal cancer center in a tertiary referral hospital. PATIENTS: Patients undergoing first reoperative intra-abdominal surgery for familial adenomatous polyposis; controls were those having their initial abdominal surgery. INTERVENTIONS: Surgery and adhesiolysis. MAIN OUTCOME MEASURES: Presence and type of desmoid disease; presence and severity of nondesmoid intraperitoneal adhesions. Where patients had multiple operations, only the first reoperative surgery was chosen. Desmoid disease was noted as reaction (sheet) or mass. Adhesions were graded as none, mild (<10 min for mobilization), average (10-30 min), and severe (>30 min or significant bowel damage). Patients having their first abdominal surgery for familial adenomatous polyposis were used as a control group. RESULTS: A total of 211 patients had no prior surgery; 5% had desmoids and 1% had adhesions. One hundred thirty-seven patients underwent reoperative surgery: 39% had desmoid disease ( p < 0.05 vs no prior surgery), the highest rate being in patients after IPAA (57%), and 45% had severe adhesions ( p < 0.01 vs no prior surgery), worst after Koch pouch (89%), and total proctocolectomy with ileostomy (82%). Thirty-six percent of patients without desmoid disease had severe adhesions. Desmoid reaction was associated with severe adhesions in 47% of cases and desmoid tumors in 66% of cases. LIMITATIONS: Possible limitations include the potential overlap between desmoid adhesions and nondesmoid adhesions and the potential for inaccuracy in defining the time of adhesiolyses. CONCLUSIONS: Familial adenomatous polyposis is associated with severe postoperative adhesions after reoperative abdominal surgery, especially in patients who develop desmoid disease. See Video Abstract . CORRELACIN ENTRE LA GRAVEDAD DE LAS ADHERENCIAS Y LA ENFERMEDAD DESMOIDEA EN PACIENTES CON POLIPOSIS ADENOMATOSA FAMILIAR ESTUDIO PROSPECTIVO DE COHORTES: ANTECEDENTES:La experiencia clínica demuestra que las adherencias intraperitoneales son más graves en pacientes con poliposis adenomatosa familiar que en pacientes sin enfermedad desmoidea. Esta impresión puede provenir de la asociación común de poliposis adenomatosa familiar con enfermedad desmoidea.OBJETIVOS:Ver si los pacientes con poliposis adenomatosa familiar y enfermedad desmoidea desarrollan adherencias más graves que aquellos sin enfermedad desmoidea.DISEÑO:Estudio de datos recolectados prospectivamente.AJUSTES:Centro de cáncer colorrectal hereditario en un hospital de referencia terciario.PACIENTES:Pacientes sometidos a una primera cirugía intraabdominal de caracter reoperatorio por poliposis adenomatosa familiar: los controles fueron los que se sometieron a su cirugía abdominal inicial.INTERVENCIONES:Cirugía y adhesiolisis.PRINCIPALES MEDIDAS DE RESULTADO:Presencia y tipo de enfermedad desmoidea; presencia y severidad de adherencias intraperitoneales no desmoideas. Cuando los pacientes tenían múltiples operaciones, solo se eligió la primera cirugía reoperatoria. La enfermedad desmoidea se anotó como reacción (hoja filamentosa) o masa. Las adherencias se calificaron como ninguna, leve (<10 minutos para la movilización), promedio (10 a 30 minutos) y severa (>30 minutos o daño intestinal significativo). Los pacientes sometidos a una primera cirugía abdominal por poliposis adenomatosa familiar se utilizaron como grupo de control.RESULTADOS:211 pacientes no tenían cirugía previa: 5% desmoideos y 1% adherencias. 137 pacientes se sometieron a cirugía reoperatoria: 39% tenía enfermedad desmoidea ( p < 0,05 frente aquellos sin cirugía previa), la tasa más alta se presentó en aquellos pacientes después de una anastomosis ileoanal con reservorio (57%) donde el 45% tenía adherencias graves ( p < 0,01 frente aquellos sin cirugía previa), peores resultados se observaron después de la confección de un reservorio de Koch (89%) y luego de proctocolectomía total con ileostomía (82%). El 36% de los pacientes sin enfermedad desmoidea tenían adherencias graves. La reacción desmoidea se asoció con adherencias graves en el 47% de los casos, y los tumores desmoides se asociaron con adherencias graves en el 66% de los casos.LIMITACIONES:Superposición potencial entre adherencias desmoideas y adherencias no desmoideas. Posible inexactitud en la definición del tiempo de adhesiolisis.CONCLUSIONES:La poliposis adenomatosa familiar se asocia con adherencias postoperatorias graves después de una cirugía abdominal reoperatoria, especialmente en pacientes que desarrollan enfermedad desmoidea. (Traducción-Dr. Xavier Delgadillo ).


Asunto(s)
Pared Abdominal , Poliposis Adenomatosa del Colon , Fibromatosis Agresiva , Proctocolectomía Restauradora , Humanos , Fibromatosis Agresiva/cirugía , Fibromatosis Agresiva/complicaciones , Estudios Prospectivos , Poliposis Adenomatosa del Colon/cirugía , Poliposis Adenomatosa del Colon/complicaciones , Proctocolectomía Restauradora/efectos adversos , Pared Abdominal/cirugía , Adherencias Tisulares/etiología , Adherencias Tisulares/cirugía
15.
BMJ Case Rep ; 16(11)2023 Nov 14.
Artículo en Inglés | MEDLINE | ID: mdl-37963665

RESUMEN

A female patient in her 20s presented to a routine ophthalmology appointment. Medical history was unremarkable. Family history was notable for intestinal cancer of a second-degree relative, diagnosed in her late 60s. Fundus examination revealed bilateral, multiple, flat, oval, pigmented lesions with an irregular halo of atrophy. The patient was diagnosed with atypical congenital hypertrophy of retinal pigmented epithelium. Investigation of extraocular associations was performed, including upper and lower endoscopy, which revealed 500-1000 colonic polyps with a maximum size 25 mm. Pathology did not reveal submucosal invasion. Genetic testing detected an adenomatous polyposis coli mutation (heterozygotic variant c.3183_3187delACAAA p.(Gln1062*)).


Asunto(s)
Poliposis Adenomatosa del Colon , Epitelio Pigmentado de la Retina , Humanos , Femenino , Epitelio Pigmentado de la Retina/patología , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/diagnóstico , Poliposis Adenomatosa del Colon/genética , Fondo de Ojo , Hipertrofia/congénito , Pruebas Genéticas
16.
Dig Dis Sci ; 68(11): 4117-4122, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37713035

RESUMEN

Familial adenomatous polyposis is an autosomal dominant disease due to a mutation in the adenomatous polyposis coli (APC) gene. The disease, characterized by the development of adenomas throughout the colon and rectum, is also associated with extracolonic manifestations including gastric fundic polyps and cancer. In this report, we describe two patients with FAP with advanced gastric adenocarcinoma who received systemic chemotherapy. We reviewed the literature published over the past two decades on gastric cancer in FAP patients to assess the clinical course of this disease. Due to its recent increased incidence in Western countries, close endoscopic surveillance to detect early gastric neoplastic lesions is recommended.


Asunto(s)
Poliposis Adenomatosa del Colon , Pólipos , Neoplasias Gástricas , Humanos , Neoplasias Gástricas/patología , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/genética , Poliposis Adenomatosa del Colon/diagnóstico , Genes APC
18.
Turk J Gastroenterol ; 34(10): 1025-1034, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37565794

RESUMEN

BACKGROUND/AIMS: The aim of this study was to both classify data of familial adenomatous polyposis patients with and without duode- nal cancer and to identify important genes that may be related to duodenal cancer by XGboost model. MATERIALS AND METHODS: The current study was performed using expression profile data from a series of duodenal samples from familial adenomatous polyposis patients to explore variations in the familial adenomatous polyposis duodenal adenoma-carcinoma sequence. The expression profiles obtained from cancerous, adenomatous, and normal tissues of 12 familial adenomatous polyposis patients with duodenal cancer and the tissues of 12 familial adenomatous polyposis patients without duodenal cancer were compared. The ElasticNet approach was utilized for the feature selection. Using 5-fold cross-validation, one of the machine learning approaches, XGboost, was utilized to classify duodenal cancer. Accuracy, balanced accuracy, sensitivity, specificity, positive predictive value, negative predictive value, and F1 score performance metrics were assessed for model performance. RESULTS: According to the variable importance obtained from the modeling, ADH1C, DEFA5, CPS1, SPP1, DMBT1, VCAN-AS1, APOB genes (cancer vs. adenoma); LOC399753, APOA4, MIR548X, and ADH1C genes (adenoma vs. adenoma); SNORD123, CEACAM6, SNORD78, ANXA10, SPINK1, and CPS1 (normal vs. adenoma) genes can be used as predictive biomarkers. CONCLUSIONS: The proposed model used in this study shows that the aforementioned genes can forecast the risk of duodenal cancer in patients with familial adenomatous polyposis. More comprehensive analyses should be performed in the future to assess the reliability of the genes determined.


Asunto(s)
Adenoma , Poliposis Adenomatosa del Colon , Neoplasias Duodenales , Humanos , Neoplasias Duodenales/genética , Neoplasias Duodenales/patología , Reproducibilidad de los Resultados , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/genética , Adenoma/genética , Adenoma/patología , Duodeno/patología , Proteínas de Unión al Calcio , Proteínas de Unión al ADN , Proteínas Supresoras de Tumor , Inhibidor de Tripsina Pancreática de Kazal
20.
J Gastroenterol Hepatol ; 38(9): 1592-1597, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37423767

RESUMEN

BACKGROUND AND AIM: Multiple duodenal polyposis associated with familial adenomatous polyposis (FAP) is a high risk of duodenal cancer development. We evaluated the feasibility of intensive endoscopic resection that is a comprehensive treatment strategy combining multiple kinds of endoscopic treatments. METHODS: This is a retrospective observational study. From January 2012 to July 2022, a total of 28 consecutive patients in FAP who underwent endoscopic resection for multiple duodenal polyposis more than twice were included. Various endoscopic treatments, such as cold polypectomy (CP), endoscopic mucosal resection (EMR), underwater EMR (UEMR), endoscopic submucosal dissection (ESD), and endoscopic papillectomy (EP), were applied depending on lesions size and location. We evaluated individual information from patients' medical records, including patient characteristics, lesion characteristics, details of endoscopic treatment, pathologic findings, and Spigelman index (SI). We compared the differences in the number of treatments and observation periods with and without SI decrease. RESULTS: A total of 1040 lesions were removed by 138 sessions of endoscopic resections. The median follow-up period was 3.2 years. At the beginning of the endoscopic intervention, median SI was 9 (6-11) and the proportion of Spigelman stage (SS) IV was 61%. Repeated endoscopic treatments finally reduced SI in 26 patients (93%), and the proportion of SS IV significantly decreased to 13% with every endoscopic treatment. The mean SI change was -4.2 points per year (95% confidence interval: -0.6 to -5.9). There were no patients required surgical duodenectomy during the follow-up period. CONCLUSION: Intensive resection has a potential of downstaging duodenal lesions associated with FAP.


Asunto(s)
Poliposis Adenomatosa del Colon , Pólipos Adenomatosos , Neoplasias Duodenales , Humanos , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/cirugía , Duodeno/cirugía , Duodeno/patología , Endoscopía , Neoplasias Duodenales/complicaciones , Neoplasias Duodenales/cirugía , Neoplasias Duodenales/patología , Estudios Retrospectivos
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