■Li-Fraumeni综合征(LFS)是TP53中的一种遗传序列变体,其特征是包括肾上腺皮质癌(ACC)在内的各种核心恶性肿瘤的早期发作,肉瘤,乳腺癌,白血病,和中枢神经系统肿瘤.我们介绍了一例LFS患者,该患者除了发展ACC外,还发展了LFS中经典未见的内分泌肿瘤。
■一名26岁的非二元个体在出生时被分配为女性,有LFS并伴有颌骨骨肉瘤的病史,在磁共振成像监测中偶然发现甲状腺和鞍区肿块。甲状腺肿块细针抽吸术证实甲状腺乳头状癌,患者接受了甲状腺全切除术。垂体检查的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。随后在腹部成像中发现患者有新的左肾上腺肿块;他们接受了左肾上腺切除术,病理与ACC一致。
■关于LFS与甲状腺和垂体肿瘤之间关系的文献有限。基因测试表明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,目前的大多数文献都是基于体细胞序列变异而不是种系序列变异的证据.
该病例突出显示了一名LFS患者,包括ACC在内的多个内分泌器官瘤形成,这是一个经典的发现,以及甲状腺乳头状癌和库欣病。除了经典描述的核心恶性肿瘤外,可能还需要进一步调查以评估LFS患者是否有更高的内分泌肿瘤风险,因为这可能会影响未来的筛查方案。
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.