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

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Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family. / Niemeyer, Elisabeth; Mofid, Hamid; Zornig, Carsten; Burandt, Eike-Christian; Stein, Alexander; Block, Andreas; Volk, Alexander E.

In: BMC GASTROENTEROL, Vol. 20, No. 1, 03.05.2020, p. 129.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Niemeyer, E, Mofid, H, Zornig, C, Burandt, E-C, Stein, A, Block, A & Volk, AE 2020, 'Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family', BMC GASTROENTEROL, vol. 20, no. 1, pp. 129. https://doi.org/10.1186/s12876-020-01283-2

APA

Niemeyer, E., Mofid, H., Zornig, C., Burandt, E-C., Stein, A., Block, A., & Volk, A. E. (2020). Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family. BMC GASTROENTEROL, 20(1), 129. https://doi.org/10.1186/s12876-020-01283-2

Vancouver

Niemeyer E, Mofid H, Zornig C, Burandt E-C, Stein A, Block A et al. Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family. BMC GASTROENTEROL. 2020 May 3;20(1):129. https://doi.org/10.1186/s12876-020-01283-2

Bibtex

@article{d96d07399ad646e196247b164c65054e,
title = "Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family",
abstract = "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: 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: 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.",
author = "Elisabeth Niemeyer and Hamid Mofid and Carsten Zornig and Eike-Christian Burandt and Alexander Stein and Andreas Block and Volk, {Alexander E}",
year = "2020",
month = may,
day = "3",
doi = "10.1186/s12876-020-01283-2",
language = "English",
volume = "20",
pages = "129",
journal = "BMC GASTROENTEROL",
issn = "1471-230X",
publisher = "BioMed Central Ltd.",
number = "1",

}

RIS

TY - JOUR

T1 - Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family

AU - Niemeyer, Elisabeth

AU - Mofid, Hamid

AU - Zornig, Carsten

AU - Burandt, Eike-Christian

AU - Stein, Alexander

AU - Block, Andreas

AU - Volk, Alexander E

PY - 2020/5/3

Y1 - 2020/5/3

N2 - 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: 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: 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.

AB - 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: 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: 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.

U2 - 10.1186/s12876-020-01283-2

DO - 10.1186/s12876-020-01283-2

M3 - SCORING: Journal article

C2 - 32362280

VL - 20

SP - 129

JO - BMC GASTROENTEROL

JF - BMC GASTROENTEROL

SN - 1471-230X

IS - 1

ER -