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J Pediatr Hematol Oncol. 2013 Nov;35(8):e341-3. doi: 10.1097/MPH.0b013e318279b3f7.

Gastric signet ring carcinoma in a patient with ataxia-telangiectasia: a case report and review of the literature.

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  • 1*Department of Pediatrics, Division of Pediatric Hematology and Oncology †Department of Pediatrics, Division of Pediatric Allergy and Immunology ‡Department of Pediatrics, Division of Pediatric Gastroenterology Departments of §Pathology ∥Radiology, Division of Pediatric Radiology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.


Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency disease characterized by progressive cerebellar ataxia, telangiectasia, sinopulmoner recurrent infections, and cancer susceptibility. Individuals with A-T are known to be at increased risk of certain malignancies including leukemia, lymphoma, and breast and gastric cancer. We present an 18-year-old case of A-T with Hashimoto thyroiditis who admitted with complaints of nausea, vomiting, anorexia, and weight loss. An upper endoscopic biopsy revealed gastric signet ring cell carcinoma. To the best of our knowledge, we report the first case of signet ring cell carcinoma in the patient with A-T. Our experience with occurrence of Hashimoto thyroiditis and gastric signet ring cell carcinoma in the same case of A-T underlines that the clinicians handling A-T must be vigilant about both malignancy and autoimmune disorders.

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