期刊
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
卷 35, 期 8, 页码 E341-E343出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MPH.0b013e318279b3f7
关键词
ataxia-telangiectasia; gastric signet ring cell carcinoma; Hashimoto thyroiditis
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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