Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family.
Abdomen, Acute
/ etiology
Adenocarcinoma
/ complications
Adult
Antigens, CD
/ genetics
Cadherins
/ genetics
Gastrectomy
Gastroscopy
Genetic Predisposition to Disease
/ genetics
Genetic Testing
Germ-Line Mutation
Humans
Immunohistochemistry
Male
Neoplastic Syndromes, Hereditary
/ complications
Pedigree
Prognosis
Stomach Neoplasms
/ complications
CDH1 germline mutation
Hereditary diffuse gastric cancer
Prophylactic gastrectomy
Journal
BMC gastroenterology
ISSN: 1471-230X
Titre abrégé: BMC Gastroenterol
Pays: England
ID NLM: 100968547
Informations de publication
Date de publication:
03 May 2020
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
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