Case report demonstrating gastric cancer development in a 25-year-old with Fanconi anemia, suggesting the need for early intervention.
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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Basilio-Roque et al. (2026) studied this question.
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