The evolving clinical, genetic and therapeutic landscape of multiple endocrine neoplasia type 2

Moodley, Serisha; Weber, Frank; Mulligan, Lois M.

doi:10.1530/erc-17-0488

Cited by 11 publications

(3 citation statements)

References 21 publications

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“…P sychological support is also important to promote effective management of MEN2. The clinical utility of the “5P” strategies for MEN2, which represent a paradigm of precision medicine, could effectively improve the health of MEN2 patients, and ultimately eliminate the adverse outcomes of MEN2 ( 50 , 105 ).…”

Section: Discussionmentioning

confidence: 99%

5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine

Ding

et al. 2020

Front. Endocrinol.

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Multiple endocrine neoplasia type 2 (MEN2) is a neuroendocrine cancer syndrome characterized by medullary thyroid carcinoma, in combination or not with pheochromocytoma, hyperparathyroidism, and extra-endocrine features. MEN2 syndrome includes two clinically distinct forms subtyped as MEN2A and MEN2B. Nearly all MEN2 cases are caused by germline mutations of the RET proto-oncogene. In this review, we propose "5P" strategies for management of MEN2: prevention, prediction, personalization, psychological support, and participation, which could effectively improve clinical outcomes of patients. Based on RET mutations, MEN2 could be prevented through prenatal diagnosis or preimplantation genetic testing. Identification of pathogenic mutations in RET can enable early diagnosis of MEN2. Combining RET mutation testing with measurement of serum calcitonin, plasma or urinary metanephrine/normetanephrine, and serum parathyroid hormone levels could allow risk stratification and accurately prediction of MEN2 progression, thus facilitating implementation of personalized precision treatments to increase disease-free survival and overall survival. Furthermore, increased awareness of MEN2 is needed, which requires participation of physicians, patients, family members, and related organizations. Psychological support is also important for patients with MEN2 to promote comprehensive management of MEN2 symptoms. The "5P" strategies for management of MEN2 represent a typical clinical example of precision medicine. These strategies could effectively improve the health of MEN2 patient, and avoid adverse outcomes, including death and major morbidity, from MEN2.

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Section: Discussionmentioning

confidence: 99%

5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine

Ding

et al. 2020

Front. Endocrinol.

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“…Interestingly, though mean value of hormonal assays of incidental findings was lower than suspected findings, significant statistical difference was not observed between groups ( P > 0.05 in all the four metanephrine secretion). Moreover, patients with suspected finding tumors were recorded with higher prevalence of multiple endocrine neoplasia type 2 (MEN2) ( P < 0.001), a rare hereditary syndrome expressing a variety of mainly endocrine neoplasias including pheochromocytomas ( 17 ).…”

Section: Resultsmentioning

confidence: 99%

Tumor characteristics and surgical outcome in incidentally discovered pheochromocytomas and paragangliomas

Chen

Liu

et al. 2018

Endocrine Connections

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ObjectiveThe proportion of incidentally discovered pheochromocytomas and paragangliomas (PPGL) has increased over time. However, our knowledge of them is quite limited. The purpose of this retrospective study is to generalize the commonalities in incidentally discovered PPGL, offer evidence for clinical diagnosis and management.MethodsFive hundred twenty-six patients were included in our study after filtration from the database of West China Hospital of Sichuan University between May, 2007 and December, 2016. Among the patients, 148 of them were incidental findings and 378 of them were suspected findings. All patients’ demography and tumor characteristics were recorded in detail, especially hemodynamic records and hormonal assays. The reasons for taking radiography were also collected. Most patients received preoperative medical preparation. Intraoperative and postoperative courses as well as surgical outcomes were also analyzed to identify differences between incidental findings and suspected findings.ResultsIncidentally discovered PPGL took up 28.1% of the study population. Suspected PPGLs had a higher prevalence of hypertension, lower proportion of non-functioning PPGL, higher prevalence of MEN2 and better post-surgical blood pressure recovery than incidental finding group. However, patients in the incidental finding group showed no significant difference in preoperative blood pressure and hormonal assays with suspected findings in metaphrine and normetaphrine in plasma and urine (P > 0.05).ConclusionsDue to the development of technology, more PPGLs are discovered incidentally. Considering the tumor characteristics and surgical outcome, surgical decisions should be made more cautiously.

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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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The evolving clinical, genetic and therapeutic landscape of multiple endocrine neoplasia type 2

Cited by 11 publications

References 21 publications

5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine

5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine

Tumor characteristics and surgical outcome in incidentally discovered pheochromocytomas and paragangliomas

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

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