Hickey Kala, Yaremko Hannah, Orr Christine, Pace David
Department of General Surgery, Faculty of Medicine, Memorial University, St. John's, NL A1B 3V6, Canada.
Faculty of Medicine, Memorial University, St. John's, NL A1B 3V6, Canada.
Curr Oncol. 2025 Mar 31;32(4):205. doi: 10.3390/curroncol32040205.
Ectopic adrenocorticotropic hormone syndrome (EAS) occurs when a tumor develops neuroendocrine differentiation with the secretion of ACTH resulting in hypercortisolism and possibly Cushing's syndrome (CS). Only 5-10% of CS cases are attributed to EAS; of these, breast tumors comprise less than 1%. Two known variants of breast neuroendocrine tumors include neuroendocrine-differentiated carcinoma and ductal carcinoma with neuroendocrine features. Currently, guidelines for treatment are limited and EAS is associated with significant morbidity and mortality. A 39-year-old female presented with a rapidly enlarging breast mass. Biopsy demonstrated invasive poorly differentiated breast carcinoma with high-grade neuroendocrine features and necrosis. Staging at diagnosis confirmed metastatic disease of the liver and bone. First-line chemotherapy (Cisplatin/Etoposide/Durvalumab) was initiated with evidence of disease progression after four cycles. Given a poor response to therapy, a simple mastectomy was performed for local control and complete pathologic analysis, demonstrating high-grade neuroendocrine carcinoma with large-cell features. Second-line therapy (Adriamycin/Cyclophosphamide) was initiated for three cycles after which the patient required admission for severe and refractory hypokalemia. Workup confirmed elevated ACTH consistent with paraneoplastic EAS and further evidence of disease progression. Third-line therapy (Nab-Paclitaxel) was initiated, and genetic testing was completed, confirming the PIK3 mutation, for which access to Alpelisib therapy was requested. Given symptoms of progressive severe CS with significant liver disease limiting medical therapies, the patient underwent urgent bilateral laparoscopic adrenalectomy after which she was able to be discharged home while awaiting additional systemic therapy. EAS resulting in CS secondary to breast neuroendocrine carcinoma is a rare and challenging diagnosis. Further research is needed to inform treatment guidelines to improve outcomes. While patient survival is dependent upon the underlying disease process, laparoscopic bilateral adrenalectomy is an accepted, definitive treatment option.
异位促肾上腺皮质激素综合征(EAS)是指肿瘤发生神经内分泌分化并分泌促肾上腺皮质激素(ACTH),导致皮质醇增多症,并可能引发库欣综合征(CS)。仅5% - 10%的CS病例归因于EAS;其中,乳腺肿瘤占比不到1%。乳腺神经内分泌肿瘤的两种已知变体包括神经内分泌分化癌和具有神经内分泌特征的导管癌。目前,治疗指南有限,且EAS与显著的发病率和死亡率相关。一名39岁女性因乳腺肿块迅速增大就诊。活检显示为浸润性低分化乳腺癌,具有高级别神经内分泌特征和坏死。诊断时的分期证实存在肝和骨转移。开始一线化疗(顺铂/依托泊苷/度伐鲁单抗),四个周期后出现疾病进展迹象。鉴于对治疗反应不佳,行单纯乳房切除术以进行局部控制和完整病理分析,结果显示为具有大细胞特征的高级别神经内分泌癌。开始二线治疗(阿霉素/环磷酰胺),三个周期后患者因严重且难治性低钾血症入院。检查证实促肾上腺皮质激素升高,符合副肿瘤性EAS,且有疾病进一步进展的证据。开始三线治疗(白蛋白结合型紫杉醇),并完成基因检测,证实存在PIK3突变,因此申请使用阿培利司治疗。鉴于进行性严重库欣综合征的症状以及严重肝病限制了药物治疗,患者接受了紧急双侧腹腔镜肾上腺切除术,术后在等待进一步全身治疗期间得以出院回家。继发于乳腺神经内分泌癌的EAS导致库欣综合征是一种罕见且具有挑战性的诊断。需要进一步研究以完善治疗指南,改善治疗结果。虽然患者的生存取决于潜在疾病进程,但腹腔镜双侧肾上腺切除术是一种公认的确定性治疗选择。