Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0004135 (
ATM
)
13,001
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Gastric signet ring carcinoma in a patient with ataxia-telangiectasia: a case report and review of the literature. 2321 92
