Impact of RET Screening on the Management of Multiple Endocrine Neoplasia Type 2A: 10 Years Experience and Follow-up in Three Families

Author:

Wang Yue-Ping1ORCID,Li Fei-Ping2ORCID,Wang Hui-Hong3ORCID,Fang Xu-Dong3ORCID,Zhu Zai-Sheng1ORCID,Chen Yong-Liang4,Qi Xiao-Ping3ORCID

Affiliation:

1. Department of Urology, the Affiliated Jinhua Hospital, Zhejiang University School of Medicine, 365 Renmin East Road, Jinhua 321000, Zhejiang Province, China

2. Department of Urology, the Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, 150 Ximen Street, Linhai 317000, Zhenjiang Province, China

3. Department of Oncologic and Urologic Surgery, the 903rd PLA Hospital, Wenzhou Medical University, 40 Jichang Road, Hangzhou 310004, Zhejiang Province, China

4. Department of Urology, Shaoxing Central Hospital, China Medical University, 1 Huayu Road, Keqiao District, Shaoxing 312030, Zhejiang Province, China

Abstract

Background: Multiple endocrine neoplasia type 2A (MEN 2A) is mainly caused by germline RET codon C634 mutation and is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), and hyperparathyroidism (HPTH). The early diagnosis and initial normative treatment are helpful for the long-term outcome of MEN2A. Methods: Three index cases and their 29 relatives from three families with MEN2A were included in this study. Genetic screening was performed on all participants. Demographic, clinical profiles, tumor histopathologic features, and follow-up records were systematically analyzed. Results: In total, RET C634Y mutation was identified in 10 individuals (10/32, 31.3%). Among them, 5 presented with MTC symptoms, whereas the other 5 did not show apparent clinical manifestation, and all were subjected to thyroidectomy with varying neck dissection. Compared to individuals in the former, the latter benefited greatly from RET screening with significantly younger age at diagnosis of MTC and surgery (18.1 ± 13.8 years vs. 39.0 ± 14.1 years, P =0.045), and less-aggressive MTC behavior (size: 0.74 vs. 2.82 cm, P =0.026; LN+/resected: 20.0% vs. 100.0%, P =0.048) and also lower recurrence rate of MTC (20.0% vs. 100.0%, P =0.048). The PHEO was identified in 6 of the 10 carriers (60.0%), and all had undergone adrenal-sparing surgery. During the 10 years of follow-up, one (16.7%) developed recurrence of PHEO. Conclusion: Integrated RET screening, serum calcitonin, and plasma metanephrine/normetanephrine levels can facilitate the early diagnosis and standardized MTC/PHEO surgery to improve the prognosis of MEN2A. Laparoscopic adrenal-sparing surgery prior to the bilateral total thyroidectomy is a preferred surgical approach for PHEO.

Publisher

Bentham Science Publishers Ltd.

Subject

Immunology and Allergy,Endocrinology, Diabetes and Metabolism

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