Año 2020 / Volumen 112 / Número 5
Original
Random biopsies in patients harboring a CDH1 mutation: time to change the approach?

367-372

DOI: 10.17235/reed.2020.6720/2019

Rui Castro, João Lobo, Inês Pita, Flávio Videira, Luís Pedro-Afonso, Mário Dinis-Ribeiro, Catarina Brandão,

Resumen
Introduction and aim: hereditary diffuse gastric cancer (HDGC) can be caused by a CDH1 mutation. It often presents as multiple foci of signet ring cell carcinoma (SRCC) that is rarely detected by gastroscopy. Prophylactic total gastrectomy is recommended at a young age. The aim of this study was to determine the adequacy of gastroscopy according to the Cambridge protocol in patients with a CDH1 mutation. Methods: patients with a CDH1 mutation admitted to our department between September 2016 and October 2018 were evaluated. All patients underwent a baseline gastroscopy according to the Cambridge protocol, followed by a recommended total gastrectomy. Endoscopic findings, the number of biopsies and histological evaluation of biopsy samples were registered. Postoperative histopathological assessment was compared with endoscopic findings in patients that underwent a total gastrectomy (n = 13). Results: twenty-five patients were included and 35 gastroscopies performed. On these, 996 gastric biopsies were performed, which included 952 random and 44 targeted. Only three patients had SRCC foci in random biopsies and one also had SRCC lesions in two targeted biopsies. In our cohort, 332 random and 22 targeted biopsies were needed to identify a single SRCC focus. Total gastrectomy was performed in 13 patients and SRCC foci were identified in 12 surgical specimens, the remaining specimen had a precursor lesion of HDGC. Discussion: gastroscopy has a poor sensitivity to detect SRCC. Even with Cambridge protocol, gastroscopy has a very limited role in the surveillance of patients with a CDH1 mutation and prophylactic total gastrectomy is the most advisable option. Nevertheless, endoscopic protocols should be optimized to favor targeted biopsies over a high number of random biopsies.
Share Button
Nuevo comentario
Comentarios
No hay comentarios para este artículo.
Bibliografía
1. Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, et al. E-cadherin germline mutations in familial gastric cancer. Nature. 1998;392(6674):402-5.
2. van der Post RS, Vogelaar IP, Carneiro F, Guilford P, Huntsman D, Hoogerbrugge N, et al. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet. 2015;52(6):361-74.
3. Gaya DR, Stuart RC, Going JJ, Stanley AJ. Hereditary diffuse gastric cancer associated with E-cadherin mutation: penetrance after all. Eur J Gastroenterol Hepatol. 2008;20(12):1249-51.
4. Munitiz V, Jimeno P, Ruiz de Angulo D, Ortiz Á, Martínez de Haro LF, Marín M, et al. Está indicada la gastrectomía profiláctica en pacientes sanos portadores del gen CDH1 para el cáncer gástrico difuso hereditario? Rev Esp Enferm Dig. 2019; 111(3):189-92.
5. Norton JA, Ham CM, Van Dam J, Jeffrey RB, Longacre TA, Huntsman DG, et al. CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. Ann Surg. 2007;245(6):873-9.
6. Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V, et al. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010;47(7):436-44.
7. Rogers WM, Dobo E, Norton JA, Van Dam J, Jeffrey RB, Huntsman DG, et al. Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications. Am J Surg Pathol. 2008;32(6):799-809.
8. Charlton A, Blair V, Shaw D, Parry S, Guilford P, Martin IG. Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone. Gut. 2004;53(6):814-20.
9. Barber ME, Save V, Carneiro F, Dwerryhouse S, Lao-Sirieix P, Hardwick RH, et al. Histopathological and molecular analysis of gastrectomy specimens from hereditary diffuse gastric cancer patients has implications for endoscopic surveillance of individuals at risk. J Pathol. 2008;216(3):286-94.
10. Shaw D, Blair V, Framp A, Harawira P, McLeod M, Guilford P, et al. Chromoendoscopic surveillance in hereditary diffuse gastric cancer: an alternative to prophylactic gastrectomy? Gut. 2005;54(4):461-8.
11. Lim YC, di Pietro M, O'Donovan M, Richardson S, Debiram I, Dwerryhouse S, et al. Prospective cohort study assessing outcomes of patients from families fulfilling criteria for hereditary diffuse gastric cancer undergoing endoscopic surveillance. Gastrointest Endosc. 2014;80(1):78-87.
12. Brandão C, Castro R, Ribeiro MD. Esophageal Heterotopic Gastric Mucosal: How to Deal with it in CDH1 Mutation Carriers? Gastroenterol Hepatol Int J. 2018;3(1):000137.
13. Oliveira C, Seruca R, Carneiro F. Hereditary gastric cancer. Best Pract Res Clin Gastroenterol. 2009;23(2):147-57.
14. Oliveira C, Pinheiro H, Figueiredo J, Seruca R, Carneiro F. Familial gastric cancer: genetic susceptibility, pathology, and implications for management. Lancet Oncol. 2015;16(2):e60-70.
15. Brandao C, Dinis-Ribeiro M. Early diagnosis of hereditary diffuse gastric cancer: (not only) an endoscopic challenge! Endosc Int Open. 2016;4(12):E1311-E2.
Artículos relacionados

Imagen en Patología Digestiva

Sustained silence of a small signet ring cell carcinoma

DOI: 10.17235/reed.2023.9891/2023

Imagen en Patología Digestiva

Ink stained gastric lesions: a rare cause of gastrointestinal bleeding

DOI: 10.17235/reed.2021.8141/2021

Imagen en Patología Digestiva

Artrodesis cervical penetrada en esófago detectada mediante gastroscopia

DOI: 10.17235/reed.2019.6222/2019

Artículo Especial

Indicadores de calidad en gastroscopia. Procedimiento de la gastroscopia

DOI: 10.17235/reed.2019.6023/2018

Imagen en Patología Digestiva

Tumor mucinoso de colon simulando un quiste hidatídico

DOI: 10.17235/reed.2017.5041/2017

Instrucciones para citar
Castro R, Lobo J, Pita I, Videira F, Pedro-Afonso L, Dinis-Ribeiro M, et all. Random biopsies in patients harboring a CDH1 mutation: time to change the approach? . 6720/2019


Descargar en un gestor de citas

Descargue la cita de este artículo haciendo clic en uno de los siguientes gestores de citas:

Métrica
Este artículo ha sido visitado 857 veces.
Este artículo ha sido descargado 171 veces.

Estadísticas de Dimensions


Estadísticas de Plum Analytics

Ficha Técnica

Recibido: 31/10/2019

Aceptado: 30/12/2019

Prepublicado: 27/04/2020

Publicado: 08/05/2020

Tiempo de revisión del artículo: 48 días

Tiempo de prepublicación: 179 días

Tiempo de edición del artículo: 190 días


Compartir
Este artículo aun no tiene valoraciones.
Valoración del lector:
Valora este artículo:




Asociación Española de Ecografía Digestiva Sociedad Española de Endoscopia Digestiva Sociedad Española de Patología Digestiva
La REED es el órgano oficial de la Sociedad Española de Patología Digestiva, la SociedadEspañola de Endoscopia Digestiva y la Asociación Española de Ecografía Digestiva
Política de cookies Política de Privacidad Aviso Legal © Copyright 2023 y Creative Commons. Revista Española de Enfermedades Digestivas