Gastric carcinoma in a 25-year-old man with Fanconi anemia: case report and literature review

Fanconi anemia (FA) is a rare genetic disorder characterized by defective DNA repair, genomic instability, and bone marrow failure.It affects approximately 1 in 200,000 live births and increases the risk of malignancies, including solid tumors.We report a 25-year-old man with FA who presented severe weight loss, vomiting, and oral intolerance.Imaging revealed pyloric stenosis and gastric wall thickening.Endoscopy confirmed intramucosal intestinal-type gastric adenocarcinoma.Despite hematologic optimization, chemotherapy, and total gastrectomy, the patient died from severe malnutrition.Early surveillance and multidisciplinary management are essential to improve outcomes in patients with FA.

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Publication Details

Journal
Anales Médicos de la Asociación Médica del Centro Médico ABC
Published
2026-07-27
DOI
https://doi.org/10.24875/amh.m26000157
Primary Topic
DNA Repair Mechanisms
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article
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article

Gastric carcinoma in a 25-year-old man with Fanconi anemia: case report and literature review

Eduardo Téllez-Bernal, Arturo García-Galicia, Armando Basilio-Roque, Víctor M. Vargas-Vargas et al.
Anales Médicos de la Asociación Médica del Centro Médico ABC
DNA Repair Mechanisms
article

Gastric carcinoma in a 25-year-old man with Fanconi anemia: case report and literature review

Eduardo Téllez-Bernal, Arturo García-Galicia, Armando Basilio-Roque, Víctor M. Vargas-Vargas, Warda A. Romero-Budib, Salvador Macías-Díaz, Cynthia S. Cruz-Medina, Miriam I. Escamilla López, Jorge Loría-Castellanos, Idalia Hernández- Coronel
article en

Abstract

Fanconi anemia (FA) is a rare genetic disorder characterized by defective DNA repair, genomic instability, and bone marrow failure.It affects approximately 1 in 200,000 live births and increases the risk of malignancies, including solid tumors.We report a 25-year-old man with FA who presented severe weight loss, vomiting, and oral intolerance.Imaging revealed pyloric stenosis and gastric wall thickening.Endoscopy confirmed intramucosal intestinal-type gastric adenocarcinoma.Despite hematologic optimization, chemotherapy, and total gastrectomy, the patient died from severe malnutrition.Early surveillance and multidisciplinary management are essential to improve outcomes in patients with FA.

Anales Médicos de la Asociación Médica del Centro Médico ABCVol. 71(3)
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DNA Repair Mechanisms
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Gastric carcinoma in a 25-year-old man with Fanconi anemia: case report and literature review — Eduardo Téllez-Bernal, Arturo García-Galicia, et al. · Anales Médicos de la Asociación Médica del Centro Médico ABC (2026) | TGRS Research Map | TGRS