ISSN 1004-4140
    CN 11-3017/P

    SPECT/CT诊断1例多发性内分泌腺瘤病1型样综合征的临床案例分析

    A Clinical Case Analysis of Multiple Endocrine Neoplasia 1-Like Syndrome Diagnosed by SPECT/CT

    • 摘要: 多发性内分泌腺瘤病(MEN)是指患者出现1型两个或两个以上的内分泌腺体肿瘤,其发病率低,症状多变,诊断困难。本文报告1例基因检测阴性的MEN样综合征病例,根据实验室检查结果、影像及病理结果考虑MEN1,行基因检测全外显子组测序(含线粒体)结果为阴性,遂诊断为MEN1型样综合征。患者垂体瘤病理免疫组化提示垂体促甲状腺激素(TSH)腺瘤,甲状旁腺病理提示甲状旁腺腺瘤,后续检查发现另有肾上腺腺瘤及乳腺腺病瘤。

       

      Abstract: Multiple endocrine neoplasia (MEN) refers to the occurrence of tumors in two or more endocrine glands, with low incidence, variable symptoms, and difficult diagnosis. This paper reports a case of MEN1-like syndrome with a negative genetic test. Based on laboratory test results, imaging, and pathological results, the patient was considered to have MEN1, and the whole-exon sequencing (including mitochondria) was negative, so it was diagnosed as MEN1-like syndrome. Pathological immunohistochemistry confirmed a pituitary adenoma, and a parathyroid adenoma was revealed by parathyroid pathology. Subsequent examinations revealed an adrenal adenoma and a mammary adenosis nodule.

       

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