Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family.


Journal

BMC gastroenterology
ISSN: 1471-230X
Titre abrégé: BMC Gastroenterol
Pays: England
ID NLM: 100968547

Informations de publication

Date de publication:
03 May 2020
Historique:
received: 03 09 2019
accepted: 22 04 2020
entrez: 5 5 2020
pubmed: 5 5 2020
medline: 29 1 2021
Statut: epublish

Résumé

Hereditary diffuse gastric cancer is a rare condition that accounts for approximately 1-3% of all gastric cancer cases. Due to its rapid and invasive growth pattern, it is associated with a very poor prognosis. As a result, comprehensive genetic testing is imperative in patients who meet the current testing criteria in order to identify relatives at risk. This case report illustrates the substantial benefit of genetic testing in the family of a patient diagnosed with hereditary diffuse gastric cancer. A 37-year-old patient was admitted to the emergency department with acute abdominal pain. Following explorative laparoscopy, locally advanced diffuse gastric cancer was diagnosed. The indication for genetic testing of CDH1 was given due to the patient's young age. A germline mutation in CDH1 was identified in the index patient. As a result, several family members underwent genetic testing. The patient's father, brother and one aunt were identified as carriers of the familial CDH1 mutation and subsequently received gastrectomy. In both the father and the aunt, histology of the surgical specimen revealed a diffuse growing adenocarcinoma after an unremarkable preoperative gastroscopy. Awareness and recognition of a potential hereditary diffuse gastric cancer can provide a substantial health benefit not only for the patient but especially for affected family members.

Sections du résumé

BACKGROUND BACKGROUND
Hereditary diffuse gastric cancer is a rare condition that accounts for approximately 1-3% of all gastric cancer cases. Due to its rapid and invasive growth pattern, it is associated with a very poor prognosis. As a result, comprehensive genetic testing is imperative in patients who meet the current testing criteria in order to identify relatives at risk. This case report illustrates the substantial benefit of genetic testing in the family of a patient diagnosed with hereditary diffuse gastric cancer.
CASE PRESENTATION METHODS
A 37-year-old patient was admitted to the emergency department with acute abdominal pain. Following explorative laparoscopy, locally advanced diffuse gastric cancer was diagnosed. The indication for genetic testing of CDH1 was given due to the patient's young age. A germline mutation in CDH1 was identified in the index patient. As a result, several family members underwent genetic testing. The patient's father, brother and one aunt were identified as carriers of the familial CDH1 mutation and subsequently received gastrectomy. In both the father and the aunt, histology of the surgical specimen revealed a diffuse growing adenocarcinoma after an unremarkable preoperative gastroscopy.
CONCLUSION CONCLUSIONS
Awareness and recognition of a potential hereditary diffuse gastric cancer can provide a substantial health benefit not only for the patient but especially for affected family members.

Identifiants

pubmed: 32362280
doi: 10.1186/s12876-020-01283-2
pii: 10.1186/s12876-020-01283-2
pmc: PMC7197118
doi:

Substances chimiques

Antigens, CD 0
CDH1 protein, human 0
Cadherins 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

129

Références

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Auteurs

Elisabeth Niemeyer (E)

Department of Medical Oncology and Hematology, University Cancer Center Hamburg, University Hamburg-Eppendorf, Hamburg, Germany. e.niemeyer@uke.de.

Hamid Mofid (H)

Department of Surgery, Regio Klinikum Pinneberg, Pinneberg, Germany.

Carsten Zornig (C)

Israelitisches Krankenhaus, Hamburg, Germany.

Eike-Christian Burandt (EC)

Institute of Pathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Alexander Stein (A)

Department of Medical Oncology and Hematology, University Cancer Center Hamburg, University Hamburg-Eppendorf, Hamburg, Germany.

Andreas Block (A)

Department of Medical Oncology and Hematology, University Cancer Center Hamburg, University Hamburg-Eppendorf, Hamburg, Germany.

Alexander E Volk (AE)

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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Classifications MeSH