Prophylactic thyroidectomy for MEN 2-related medullary thyroid carcinoma based on predictive testing for RET proto-oncogene mutation and basal serum calcitonin in China

Xp, Qi; Jq, Zhao; Zf, Du; Rr, Yang; Jm, Ma; Fei, Jingyi; Cheng, Jun; Js, Han; Hy, Jin; Zg, Chen; Jq, Wang; Yp, Yang; Ying, R.; Xl, Chen; Liu, Wei-Ting; Zhao, Yan; Hl, Jiang; Xn, Zhang

doi:10.1016/j.ejso.2013.06.015

Cited by 21 publications

(20 citation statements)

References 29 publications

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“…MEN 2B is an autosomal dominant genetic disease. After the diagnosis of MEN 2B, the patients' immediate family members should be screened for MTC and PCC, and early genetic testing for RET proto-oncogene mutations is necessary to achieve the purpose of early discovery and early treatment [27][28][29]. Our patient showed no abnormalities in the skeletal structure, lip shape, sonographic examination of the thyroid, or in any of the endocrine examinations, and there were no tumors elsewhere in the oral cavity or the ocular region.…”

Section: Discussionmentioning

confidence: 99%

Solitary mucosal neuroma in the maxillary incisor gingival papilla without multiple endocrine neoplasia type 2B (MEN 2B): a case report and literature review

Qiu

Wang

Chen

et al. 2020

Preprint

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Background Mucosal neuroma (MN) is a benign neural tumor of peripheral nerves histologically characterized by irregular tortuous bundles of nerve cells with prominent perineurium that lie scattered throughout the submucosa. The tumor is usually associated with the multiple endocrine neoplasia type 2B (MEN 2B) but rarely occurs without the other components of MEN 2B. We present a case of solitary MN without MEN 2B that occurs in the maxillary incisor gingival papilla that has not been reported yet and review the literature. Case presentation: A 29-year-old woman presented to our outpatient department with an upper anterior teeth gingiva painless mass for 2-year. Intraoral examination revealed a small, tough, basal wide, well-defined mass in the labial gingival papilla between maxillary central incisor. Excisional biopsy showed that it was characterized by nerve bundles in various sizes surrounded by normal connective tissue in the submucosa under HE staining; Immunohistochemically, the mass showed strongly positive staining of S-100 protein, NSE,NF and weakly positive of EMA. The Laboratory examination and ultrasonography showed no signs of MEN 2B. In the first 6 months of follow-up, there was no evidence of recurrence and other components of MEN 2B. The patient was asymptomatic and she is still being followed up every 6 months. Based on these features, the lesion was finally diagnosed as a solitary gingival MN. Conclusions This study showed a rare solitary MN in the gingiva papilla without MEN 2B that has not been reported yet. The histopathological evaluation can be helpful in the differential diagnosis of MN. It is hoped that a greater understanding of solitary MN without MEN 2B in the oral cavity will avoid potential misdiagnosis, and contribute to determining the correct management, which appears to be complete surgical excision with close follow-up for recurrence and other components of MEN 2B surveillance.

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Section: Discussionmentioning

confidence: 99%

Solitary mucosal neuroma in the maxillary incisor gingival papilla without multiple endocrine neoplasia type 2B (MEN 2B): a case report and literature review

Qiu

Wang

Chen

et al. 2020

Preprint

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“…The clinical data in this family might imply the clinical pattern of a later diagnosis/onset of MTC and a lower penetrance of PHEO. Nonetheless, the genetic RET screening can instructively classify the pathology of thyroid tumors, and individuals with C611Y should be managed using a personalized approach and be related to psychological support ( 5 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 ).…”

Section: Discussionmentioning

confidence: 99%

The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis

Peng

Yang

et al. 2018

Endocrine Connections

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BackgroundCutaneous lichen amyloidosis (CLA) has been reported in some multiple endocrine neoplasia type 2A (MEN 2A) families affected by specific germline RET mutations C634F/G/R/W/Y or V804M, as a characteristic of the clinical manifestation in ‘MEN 2A with CLA’, one of four variants of MEN 2A, which was strictly located in the scapular region of the upper back.Patient FindingsThis study reports a large south-eastern Chinese pedigree with 17 individuals carrying the MEN 2A-harboring germline C611Y (c.1832G>A) RET mutation by Sanger sequencing. One individual presented MEN 2A-related clinical features, including typical CLA in the interscapular region; another individual exhibited neurological pruritus and scratching in the upper back but lacked CLA skin lesions. Both subjects presented with CLA or pruritic symptoms several years before the onset of medullary thyroid carcinoma (MTC) and/or pheochromocytoma. The remaining 15 RET mutation carriers did not exhibit CLA; of these, one presented with MTC and pheochromocytoma, nine with MTC only, two with elevated serum calcitonin and three younger subjects with normal serum calcitonin levels. This family’s clinical data revealed a later diagnosis of MTC (mean age, 45.9 (range: 23–73) years), a lower penetrance of pheochromocytoma (2/17, 11.8%) and CLA (1/17, 5.9%). However, no hyperparathyroidism and Hirschsprung disease were reported in this family.Summary and ConclusionsThis is the first description of a family with MEN 2A-related CLA due to a germline RET C611Y mutation, which might exhibit a novel and diversified genotype–phenotype spectrum in MEN 2A.

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“…QI et al . [ 11 ] also reported that MTC remained located within the thyroid at low concentrations of Ct (<71.4 ng/L) in 17 asymptomatic RET carriers from the Chinese Han nationality. Here, the 3 patients (F4-III2, F6-III2, and F6-III5) might have avoided prophylactic B-LND (VI).…”

Section: Discussionmentioning

confidence: 99%

“…In recent years, combined detection of RET mutations and pre-operative calcitonin (pre-Ct) levels have been considered for comprehensive decision-making regarding the timing or surgical extent of prophylactic TT [ 8 ]-[ 11 ]. Moreover, phase III clinical trials have demonstrated that one oral drug (such as vandetanib), which is a small molecular multi-targeted tyrosine kinase inhibitor, provides a new therapeutic choice for advanced hereditary MTC patients whose disease cannot be resected or who present with metastatic lesions [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese

Zhao

Chen

2015

Hered Cancer Clin Pract

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BackgroundMultiple 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.MethodsWe 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.ResultsThe 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.ConclusionsBased 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.Electronic supplementary materialThe online version of this article (doi:10.1186/s13053-015-0026-1) contains supplementary material, which is available to authorized users.

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Prophylactic thyroidectomy for MEN 2-related medullary thyroid carcinoma based on predictive testing for RET proto-oncogene mutation and basal serum calcitonin in China

Cited by 21 publications

References 29 publications

Solitary mucosal neuroma in the maxillary incisor gingival papilla without multiple endocrine neoplasia type 2B (MEN 2B): a case report and literature review

Solitary mucosal neuroma in the maxillary incisor gingival papilla without multiple endocrine neoplasia type 2B (MEN 2B): a case report and literature review

The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis

Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese

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