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Prophylactic Laparoscopic-Assisted Total Gastrectomy for Hereditary Diffuse Gastric Cancer

BACKGROUND: Ten percent of gastric cancer (GC) cases are familial, with one third resulting from a mutation in the tumor suppressor gene CDH1. Loss of this important structure can result in hereditary diffuse gastric cancer (HDGC), which carries a high mortality if early diagnosis is not made. Despi...

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Autores principales: Francis, Wesley P., Rodrigues, Daniald M., Perez, Nolan E., Lonardo, Fulvio, Weaver, Donald, Webber, John D.
Formato: Texto
Lenguaje:English
Publicado: Society of Laparoendoscopic Surgeons 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3015792/
https://www.ncbi.nlm.nih.gov/pubmed/17651578
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author Francis, Wesley P.
Rodrigues, Daniald M.
Perez, Nolan E.
Lonardo, Fulvio
Weaver, Donald
Webber, John D.
author_facet Francis, Wesley P.
Rodrigues, Daniald M.
Perez, Nolan E.
Lonardo, Fulvio
Weaver, Donald
Webber, John D.
author_sort Francis, Wesley P.
collection PubMed
description BACKGROUND: Ten percent of gastric cancer (GC) cases are familial, with one third resulting from a mutation in the tumor suppressor gene CDH1. Loss of this important structure can result in hereditary diffuse gastric cancer (HDGC), which carries a high mortality if early diagnosis is not made. Despite its clear genetic origin, optimal management of HDGC family members is controversial, as the utility and efficacy of current cancer screening programs for mutation carriers are unproven. METHODS: A 53-year-old Caucasian woman was initially seen for genetic screening because multiple family members had mutations of the CDH1 gene. Her pedigree analysis demonstrated 4 generations of gastric cancer, and 2 of the generations carried the CDH1 germline mutation, consistent with HDGC. At endoscopy, the patient's gastric mucosa was normal and random biopsies were also normal. The patient underwent a laparoscopic total gastrectomy. RESULTS: The gross examination of her stomach appeared normal. On histologic examination, however, the stomach was found to have diffuse (signet ring cell) adenocarcinoma in-situ with 11 microscopic foci of invasive adenocarcinoma limited to the lamina propria. CONCLUSIONS: Our case is the first reported prophylactic total gastrectomy utilizing a laparoscopic approach, and it highlights the importance of taking a thorough family history and obtaining a pedigree analysis. Endoscopic screening in HDGC cannot rule out diffuse GC, because the stomach and biopsies can be normal despite the presence of adenocarcinoma. Therefore, our case supports the recommendation for prophylactic gastrectomy in HDGC.
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spelling pubmed-30157922011-02-17 Prophylactic Laparoscopic-Assisted Total Gastrectomy for Hereditary Diffuse Gastric Cancer Francis, Wesley P. Rodrigues, Daniald M. Perez, Nolan E. Lonardo, Fulvio Weaver, Donald Webber, John D. JSLS Case Reports BACKGROUND: Ten percent of gastric cancer (GC) cases are familial, with one third resulting from a mutation in the tumor suppressor gene CDH1. Loss of this important structure can result in hereditary diffuse gastric cancer (HDGC), which carries a high mortality if early diagnosis is not made. Despite its clear genetic origin, optimal management of HDGC family members is controversial, as the utility and efficacy of current cancer screening programs for mutation carriers are unproven. METHODS: A 53-year-old Caucasian woman was initially seen for genetic screening because multiple family members had mutations of the CDH1 gene. Her pedigree analysis demonstrated 4 generations of gastric cancer, and 2 of the generations carried the CDH1 germline mutation, consistent with HDGC. At endoscopy, the patient's gastric mucosa was normal and random biopsies were also normal. The patient underwent a laparoscopic total gastrectomy. RESULTS: The gross examination of her stomach appeared normal. On histologic examination, however, the stomach was found to have diffuse (signet ring cell) adenocarcinoma in-situ with 11 microscopic foci of invasive adenocarcinoma limited to the lamina propria. CONCLUSIONS: Our case is the first reported prophylactic total gastrectomy utilizing a laparoscopic approach, and it highlights the importance of taking a thorough family history and obtaining a pedigree analysis. Endoscopic screening in HDGC cannot rule out diffuse GC, because the stomach and biopsies can be normal despite the presence of adenocarcinoma. Therefore, our case supports the recommendation for prophylactic gastrectomy in HDGC. Society of Laparoendoscopic Surgeons 2007 /pmc/articles/PMC3015792/ /pubmed/17651578 Text en © 2007 by JSLS, Journal of the Society of Laparoendoscopic Surgeons. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License (http://creativecommons.org/licenses/by-nc-nd/3.0/), which permits for noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited and is not altered in any way.
spellingShingle Case Reports
Francis, Wesley P.
Rodrigues, Daniald M.
Perez, Nolan E.
Lonardo, Fulvio
Weaver, Donald
Webber, John D.
Prophylactic Laparoscopic-Assisted Total Gastrectomy for Hereditary Diffuse Gastric Cancer
title Prophylactic Laparoscopic-Assisted Total Gastrectomy for Hereditary Diffuse Gastric Cancer
title_full Prophylactic Laparoscopic-Assisted Total Gastrectomy for Hereditary Diffuse Gastric Cancer
title_fullStr Prophylactic Laparoscopic-Assisted Total Gastrectomy for Hereditary Diffuse Gastric Cancer
title_full_unstemmed Prophylactic Laparoscopic-Assisted Total Gastrectomy for Hereditary Diffuse Gastric Cancer
title_short Prophylactic Laparoscopic-Assisted Total Gastrectomy for Hereditary Diffuse Gastric Cancer
title_sort prophylactic laparoscopic-assisted total gastrectomy for hereditary diffuse gastric cancer
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3015792/
https://www.ncbi.nlm.nih.gov/pubmed/17651578
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