Friedman Jared G, Papagiannis Ioannis G
Northwestern University Feinberg School of Medicine, Chicago, Illinois.
AACE Clin Case Rep. 2024 Mar 28;10(4):127-131. doi: 10.1016/j.aace.2024.03.007. eCollection 2024 Jul-Aug.
BACKGROUND/OBJECTIVE: Li-Fraumeni syndrome (LFS) is an inherited sequence variant in TP53 characterized by the early onset of various core malignancies including adrenocortical carcinoma (ACC), sarcomas, breast cancer, leukemias, and central nervous system tumors. We present a case of a patient with LFS who developed endocrine neoplasms not classically seen in LFS in addition to developing ACC.
A 26-year-old nonbinary individual assigned female at birth with a history of LFS complicated by osteosarcoma of the jaw was incidentally found to have thyroid and sellar masses on surveillance magnetic resonance imaging. Fine-needle aspiration of thyroid mass confirmed papillary thyroid carcinoma, and the patient underwent total thyroidectomy. Pituitary workup was notable for laboratory test results consistent with adrenocorticotropic hormone-dependent hypercortisolism; the patient underwent resection of the pituitary lesion. The patient was subsequently noted on abdominal imaging to have a new left adrenal mass; they underwent left adrenalectomy with pathology consistent with ACC.
There is limited literature on the relationship between LFS and thyroid and pituitary neoplasms. Genetic testing has suggested that TP53 sequence variants may play a role in tumorigenesis in thyroid and pituitary neoplasms; however, most of the current literature is based on evidence of somatic rather than germline sequence variants.
This case highlights a patient with LFS with neoplasia of multiple endocrine organs including ACC, which is a classic finding, as well as papillary thyroid carcinoma and Cushing disease. Further investigation may be necessary to assess if patients with LFS are at a higher risk of various endocrine neoplasms in addition to the core malignancies classically described because this could affect future screening protocols.
背景/目的：李-弗劳梅尼综合征（LFS）是一种TP53基因的遗传性序列变异，其特征是多种核心恶性肿瘤的早发，包括肾上腺皮质癌（ACC）、肉瘤、乳腺癌、白血病和中枢神经系统肿瘤。我们报告一例LFS患者，该患者除发生ACC外，还出现了LFS中不常见的内分泌肿瘤。
一名26岁出生时被指定为女性的非二元性别个体，有LFS病史并伴有颌骨骨肉瘤，在监测磁共振成像时偶然发现甲状腺和鞍区肿块。甲状腺肿块细针穿刺确诊为甲状腺乳头状癌，患者接受了甲状腺全切术。垂体检查发现实验室检查结果与促肾上腺皮质激素依赖性皮质醇增多症一致；患者接受了垂体病变切除术。随后腹部影像学检查发现患者左肾上腺有一个新肿块；他们接受了左肾上腺切除术，病理结果与ACC一致。
关于LFS与甲状腺和垂体肿瘤之间关系的文献有限。基因检测表明，TP53序列变异可能在甲状腺和垂体肿瘤的肿瘤发生中起作用；然而，目前的大多数文献基于体细胞而非种系序列变异的证据。
本病例突出了一名患有LFS的患者，其出现了包括ACC在内的多个内分泌器官肿瘤，ACC是一个典型发现，此外还有甲状腺乳头状癌和库欣病。可能需要进一步研究，以评估LFS患者除了经典描述的核心恶性肿瘤外，是否有更高的风险发生各种内分泌肿瘤，因为这可能会影响未来的筛查方案。
