30 Years of experience:the Clinical Features of 73 Cases with Ectopic ACTH Syndrome in a Single Center

Presentation Number: MON 418
Date of Presentation: April 3rd, 2017

Hanze Du, Lin Lu*, Huijuan Zhu, Hui Pan, Anli Tong, Fan Ping, Yong Fu, Shi Chen, Hongbo Yang, Lian Duan, Naishi Li, Xiaoping Xing and Zhaolin Lu
Peking Union Medical College Hospital, Key laboratory of National Health and Family Planning Commission, Chinese Academy of Medical Science, Beijing, China

Abstract

Objective:To investigate and discuss the features of the diagnosis and treatment of the rare disease-Ectopic ACTH syndrome.

Methods: A retrospective study of 73 cases with ACTH-dependent Cushing’s syndrome reviewed from 1988 to 2016 in Peking Union Medical College Hospital.

Results: 73 patients was admitted to Peking Union Medical College Hospital (PUMCH) with average age of 38.6 years old and median 12 months duration at initial disease presentation. Most cases presented clinical and biochemical evidences of Cushing’s syndrome with increased serum cortisol (100%) and ACTH (96.9%). 61.4% EAS cases had obesity (BMI>24kg/m2), and 81.7% cases with hypokalemia (2.77±0.70 mmol/L). High-dose dexamethasone suppression test (HDDST) failed to suppress UFC and 17OHCS in 80.6% cases. 21 (100%) patients showed no petrosal-to-peripheral ACTH gradient on IPSS. 87.7% patients could detect ectopic tumor by CT, MRI, octreotide or PET-CT scanning. 54 cases were definitively diagnosed as ectopic ACTH syndrome by finding ectopic tumors; 9 cases were diagnosed as ectopic ACTH by imaging examinations and 10 cases without source of ectopic hormone identified, 5 cases were treated with bilateral or unilateral adrenalectomy. In 54 cases with histopathological confirmed diagnosis, carcinoid is the most common pathology classification in EAS patients. Pulmonary and bronchia tumors were most frequently detected (44.4%, n=24), followed by thymus and mediastinum carcinoid (31.5%, n=17), pancreatic carcinoid (5.6%, n=3) and pheochromocytoma (5.6%, n=3). We identified 3 Ectopic CRH syndrome cases in our study, include perineal primitive neuroectodermal tumor, presacral teratoma and medullary thyroid carcinoma. Two of three cases had insuppressible UFC or 17OHCS after HDDST (<50%), and another case could suppress UFC <80% in HDDST, however no suspicious pituitary tumor were identified by pituitary MRI scans. The ACTH staining were negative in immunohistochemistry, but CRH were positive.

Conclusions: Clinical manifestations of EAS is similar to Cushing disease, however it is relatively difficult and complicated to localize the tumor of ectopic ACTH syndrome patients. The EAS patients had lower obesity and higher hypokalemia rate than Cushing Diseases patients. Regular CT/MRI scanning could detect nearly 80% possible EAS tumor, for uncertain ectopic tumor patients, octreotide or PET-CT scanning had little benefit to locate suspicious tumor. Chest carcinoid tumors are the most common ectopic ACTH secreting resource in EAS patients.

 

Nothing to Disclose: HD, LL, HZ, HP, AT, FP, YF, SC, HY, LD, NL, XX, ZL