1.Multiple endocrine neoplasia-IIb with RET gene mutation p.M918T: A case report.
Ping JIN ; Wenmu HU ; Youbo YANG ; Xiaodan LONG ; Zhaohui MO
Journal of Central South University(Medical Sciences) 2020;45(10):1261-1265
Multiple endocrine neoplasia-IIb (MEN-IIb) is a rare hereditary autosomal dominant syndrome caused by mutations in the RET proto-oncogene. It's characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), mucosal neuromas, and Marfanoid habitus. Because of the rarity of MEN-IIb and finiteness of clinical cognition, the majority of the patients suffer a delayed diagnosis. A MEN-IIb patient with the lingual mucosal neuromas since childhood was admitted in the Third Xiangya Hospital of Central South University in November, 2018. He had surgical history of mitral valve prolapse and spinal deformity. He was diagnosed with MTC and PHEO at the age of 22 and 28, respectively, and received surgical treatments. Sequencing of RET gene revealed a de novo heterozygous p.M918T mutation in the patient. Being aware of the unique clinical phenotype and screening of RET gene mutation may lead to the early diagnosis and better long-term outcome for MEN-IIb.
Adrenal Gland Neoplasms
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Child
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Genes
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Humans
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Male
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Multiple Endocrine Neoplasia
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Multiple Endocrine Neoplasia Type 2a/genetics*
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Multiple Endocrine Neoplasia Type 2b/genetics*
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Mutation
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Proto-Oncogene Proteins c-ret/genetics*
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Thyroid Neoplasms/genetics*
3."Graded early warning system" of RET germline mutation carriers in MEN2A/MEN2B families and total thyroidectomy (report of 7 cases).
Xin Meng QI ; Wan Xin LI ; Jun Wei HUANG ; Zhi Gang HUANG ; Xiao Hong CHEN
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2023;58(3):212-217
Objective: To explore the reasonable time of prophylactic thyroidectomy for RET gene carriers in multiple endocrine neoplasia(MEN) 2A/2B families. Methods: From May 2015 to August 2021, RET gene carriers in MEN2A/MEN2B families were dynamically followed up at the Department of Thyroid Head and Neck Surgery, Beijing Tongren Hospital of Capital Medical University. The high-risk patients were encouraged to undergo prophylacitc total thyroidectomy according to the principle of "graded early warning system", namely the evaluation of gene detection, calcitonin value and ultrasound examination successively. Seven cases underwent the surgery, including 3 males and 4 females, aged from 7 to 29 years. According to the risk stratification listed in the guidelines of the American Thyroid Association in 2015, there were 2 cases of the highest risk, 2 cases of the high risk and 3 cases of the modest risk. Calcitonin index remained within the normal range in 3 cases and elevated in 4 cases before operation. All 7 patients underwent thyroidectomy with lymph node dissection of the level Ⅵ performed in 4 patients. Results: The time from suggestion to operation was 2 to 37 months, with an average of 15.1 months. The 6 patients were medullary thyroid carcinoma and 1 case with C-cell hyperplasia. The follow-up time was 2 to 82 months, with an average of 38.4 months. Postoperative serum calcitonin levels of all cases decreased to normal level, with biochemical cure. There was no sign of recurrence on ultrasound examination. All 7 patients had no serious complications, no obvious thyroid dysfunction. Their height, weight and other indicators of pediatric patients were similar to those of their peers, with normal growth and development. Conclusion: For healthy people with MEN2A/MEN2B family history, prophylactic thyroidectomy can be carried out selectively based on the comprehensive evaluation of "graded early warning system" with strict screening and close monitoring.
Female
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Male
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Humans
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Child
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Adolescent
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Young Adult
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Adult
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Multiple Endocrine Neoplasia Type 2b/surgery*
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Thyroidectomy
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Multiple Endocrine Neoplasia Type 2a/surgery*
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Calcitonin
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Germ-Line Mutation
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Proto-Oncogene Proteins c-ret/genetics*