背景:甲状腺髓样癌(MTC)是一种由甲状腺滤泡旁C细胞引起的神经内分泌肿瘤,在极少数情况下,可引起副肿瘤异位库欣综合征(ECS)。MTC患者库欣综合征(CS)的发展通常与疾病的晚期和预后不良有关。总结:我们描述了一例年轻男性因MTC导致严重CS的病例。我们进行了系统评价,以确定由于MTC引起的ECS病例。我们搜索了PubMed,Scopus,和WebofScience在数据库开始到2022年2月之间的出版物,我们收集了患者特征,疾病介绍,采用治疗策略,和疾病结果。除了我们的病人,我们确定了文献报道的由MTC引起的96例ECS。诊断时的平均年龄为44.4岁(范围10-84岁),男性占主导地位(男性:女性[M:F]=1.8:1)。大多数患者(51%)在诊断时出现转移性疾病,并表现出严重的皮质醇增多症。随访期间有17例患者发生远处转移和皮质醇增多症。有趣的是,在48%的患者中,CS的诊断遵循MTC的诊断,中位时间为48个月,但是,在诊断为伴随的患者中(38%),皮质醇增多症引起的症状通常是寻求医疗建议的原因。病理结果显示,在接受测试的患者中,有76%的患者存在促肾上腺皮质激素(ACTH)或促肾上腺皮质激素释放激素(CRH)阳性细胞的证据。皮质醇增多症的管理在大多数患者中具有挑战性,48%的患者需要,最终,双侧肾上腺切除术(BLA)的确定性治疗。最近,关于酪氨酸激酶抑制剂(TKIs)治疗MTC所致ECS患者皮质醇增多症的证据有限.尽管生存信息有限,预后普遍较差,死亡的主要原因是CS的并发症或疾病进展。结论:尽管它很少,在ECS的鉴别诊断中应考虑MTC。皮质醇增多症的管理是改善患者症状的关键因素,但通常具有挑战性,并且经常需要BLA。需要进一步的研究来研究TKIs在MTC合并ECS患者中的作用。
Background: Medullary thyroid cancer (MTC) is a neuroendocrine tumor arising from parafollicular C-cells of the thyroid gland that, in rare cases, can cause a paraneoplastic ectopic Cushing\'s syndrome (ECS). The development of Cushing\'s syndrome (CS) in MTC patients is generally associated with advanced disease and poor prognosis. Summary: We described a case of severe CS due to MTC in a young male. We performed a systematic
review to identify cases of ECS due to MTC. We searched PubMed, Scopus, and Web of Science for publications between database inception and February 2022 and we collected the patient characteristics, disease presentation, employed treatment strategies, and disease outcomes. In addition to our patient, we identified 96 cases of ECS due to MTC reported in literature. Mean age at diagnosis was 44.4 years (range 10-84), and there was a male predominance (male:female [M:F] = 1.8:1). Most patients (51%) presented with metastatic disease at diagnosis and showed severe hypercortisolism. Seventeen patients developed distant metastasis and hypercortisolism during follow-up. Interestingly, in 48% of patients, the diagnosis of CS followed the diagnosis of MTC with a median time of 48 months but, among patients in whom the diagnosis was concomitant (38%), symptoms due to hypercortisolism were frequently the reason for seeking medical advice. Pathology results showed evidence of adrenocorticotropic hormone (ACTH) or corticotropin releasing hormone (CRH) positive cells in 76% of patients in whom they were tested. The management of hypercortisolism was challenging in most patients with 48% requiring, eventually, definitive treatment with bilateral adrenalectomy (BLA). Recently, some limited evidence has emerged regarding tyrosine kinase inhibitors (TKIs) treatment for hypercortisolism in patients with ECS due to MTC. Despite limited information on survival, prognosis was generally poor and the main causes of death were either complications of CS or disease progression. Conclusions: Despite its rarity, MTC should be considered in the differential diagnosis of ECS. Management of hypercortisolism is a key factor to improve the patient\'s symptoms but it is often challenging and BLA is frequently required. Further studies are needed for investigating the role of TKIs in patients with MTC with ECS.