Related Experiment Video
Updated: Apr 18, 2026
Spontaneous Murine Model of Anaplastic Thyroid Cancer
Published on: February 3, 2023
Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese
Jian-Qiang Zhao1, Zhen-Guang Chen2, Xiao-Ping Qi2
1Department of Head and Neck Surgery, Zhejiang Cancer Hospital, Hangzhou, 310022 Zhejiang Province China.
Background:
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant inherited endocrine malignancy syndrome. Early and normative surgery is the only curative method for MEN 2-related medullary thyroid carcinoma (MTC). In patients with adrenal pheochromocytoma, cortical-sparing adrenalectomy (CSA) can be utilized to preserve adrenocortical function.
Methods:
We present twenty-six of 33 MEN2 patients underwent prophylactic thyroidectomy with varying neck dissection and eight of 24 MEN2A patients with PHEO underwent adrenal-sparing surgery. Direct sequencing of entire RET exons was performed in all participants.
Results:
The RET mutations (p.C634Y [n = 10], p.C634R [n = 9], p.C634F [n = 2], p.C618Y [n = 8], p.C618R [n = 3], and p.M918T [n = 1]) were confirmed in 20 symptomatic patients and identified in 13 at-risk relatives (RET carriers). Twenty-six of 33 MEN2 patients underwent thyroidectomies with neck dissections; the mean age at the time of the first thyroid surgery and the tumor diameter of the 6 RET carriers was decreased compared with 20 symptomatic patients (P < 0.001 and P = 0.007, respectively), while the disease-free survival was increased (80% vs.10%, P = 0.0001). Seven RET carriers who were declined surgery. One of 20 symptomatic patients with MTC bone metastases after surgery received vandetanib therapy for 20 months and responded well. Additionally, 8 of 24 MEN2A patients who initially had unilateral pheochromocytomas underwent CSA, 1 developed contralateral pheochromo cytomas 10 years later, then also accepted and also agreed to a CSA. None of the patients required steroid replacement therapy.
Conclusions:
Based on our results, integrated RET screening and the pre-operative calcitonin level is an excellent strategy to ensure earlier diagnosis and standard thyroidectomy. CSA can be utilized to preserve adrenocortical function in patients with pheochromocytomas.
Insights
Early RET screening and surgery significantly improve outcomes for Multiple Endocrine Neoplasia type 2 (MEN2) patients with medullary thyroid carcinoma. Cortical-sparing adrenalectomy (CSA) effectively preserves adrenal function in patients with pheochromocytoma.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Multiple Endocrine Neoplasia type 2 (MEN2) is an inherited endocrine malignancy syndrome.
- Early surgical intervention is crucial for curative treatment of MEN2-related medullary thyroid carcinoma (MTC).
- Cortical-sparing adrenalectomy (CSA) is a surgical option to preserve adrenal function in patients with pheochromocytoma.
Purpose of the Study:
- To evaluate the efficacy of prophylactic thyroidectomy and CSA in MEN2 patients.
- To assess the impact of RET mutation screening on early diagnosis and treatment outcomes.
- To determine the long-term functional preservation of the adrenal gland after CSA.
Main Methods:
- Conducted prophylactic thyroidectomy with neck dissection in 33 MEN2 patients.
- Performed adrenal-sparing surgery (CSA) in 8 MEN2A patients with pheochromocytoma.
- Utilized direct sequencing of RET exons for genetic analysis in all participants.
Main Results:
- RET mutations were confirmed in 20 symptomatic patients and 13 at-risk relatives.
- Prophylactic thyroidectomy in RET carriers resulted in earlier diagnosis, smaller tumor size, and improved disease-free survival (80% vs. 10%).
- CSA preserved adrenocortical function in all patients, with no requirement for steroid replacement therapy.
Conclusions:
- Integrated RET screening and calcitonin level assessment facilitate earlier diagnosis and standard thyroidectomy for MEN2.
- CSA is an effective strategy for preserving adrenocortical function in MEN2 patients with pheochromocytoma.
