100-Year evolution of precision medicine and surgery for multiple endocrine neoplasia type 2A

Machens, Andreas; Elwerr, Malik; Lorenz, Kerstin; Weber, Frank; Dralle, Henning

doi:10.1007/s12020-020-02232-5

Cited by 22 publications

(27 citation statements)

References 29 publications

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“…In contrast, genetic drift plays a more important role in small populations. Thus, many pathogenic variants must have appeared centuries ago and continue to be passed on to new generations (29).…”

Section: Geographic Spectrum Of Ret Variantsmentioning

confidence: 99%

“…Largest series on MEN2-related RET pathogenic variants from Germany, France, Italy, United Kingdom, Brazil, Japan, and United States of America Table 1 compares the results of RET pathogenic variants causing MEN2 in the largest published series, originating from Germany (n = 533) (9,26,29,36,38,39), France (n = 437) (39,40,41), Italy (n = 237) (17,31,32,42), United Kingdom (UK) (n = 110) (43), Brazil (n = 554) (44), United States of America (USA) (n = 403) (45,46,47,48,49,50,51,52), and Japan (n = 390) (53,54,55,56,57).…”

Section: Geographic Spectrum Of Ret Variantsmentioning

confidence: 99%

“…The data from Germany on RET genotyping are comprehensive and up-to-date (9,26,29,36,38,39). It is interesting to note that one of the German centers, when describing their 40 years of experience with 263 MTC patients (9), presented some differences in RET genotypes in comparison with the total number of cases in Germany (39); thus, in this series, there were more patients with p.Cys634Tyr (n = 49) than patients with p.Cys634Arg (n = 30) and an equal number of patients with p.Leu790Phe and p.Ser891Ala variants (9,39), further demonstrating heterogeneity in RET genotypes throughout Germany (36).…”

Section: Geographic Spectrum Of Ret Variantsmentioning

confidence: 99%

See 2 more Smart Citations

GLOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive review

Maciel

Maia

2022

European Journal of Endocrinology

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Genetic variability in humans is influenced by many factors, such as natural selection, mutations, genetic drift, and migrations. Molecular epidemiology evaluates the contribution of genetic risk factors in the etiology, diagnosis, and prevention of a particular disease. Few areas of medicine have been so clearly affected by genetic diagnosis and management as multiple neoplasia type 2 (MEN2), in which activating pathogenic variants in the RET gene results in the development of medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism in nearly 98%, 50% and 25% of gene carriers, respectively. Here, we aimed to collect RET genotyping data worldwide to analyze the distribution and frequency of RET variants from a global perspective. We show that the mutational spectrum of RET is observed worldwide. The codon 634 variants seem to be the most prevalent, but there are differences in the type of amino acid exchanges among countries and in the frequencies of the other RET codon variants. Most interestingly, studies using haplotype analysis or pedigree linkage have demonstrated that some pathogenic RET variants have been transmitted to offspring for centuries, explaining some local prevalence due to a founder effect. Unfortunately, after almost three decades after the causative role of the germline RET variants have been reported in hereditary MTC, comprehensive genotyping data remain limited to a few countries. The heterogeneity of RET variants justifies the need for a global effort to describe epidemiological data of families with MEN2 to further understand the genetic background and environmental circumstances that affect disease presentation.

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Section: Geographic Spectrum Of Ret Variantsmentioning

confidence: 99%

Section: Geographic Spectrum Of Ret Variantsmentioning

confidence: 99%

Section: Geographic Spectrum Of Ret Variantsmentioning

confidence: 99%

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GLOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive review

Maciel

Maia

2022

European Journal of Endocrinology

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“…Some studies in high-volume centers have shown a low risk of recurrence noted to be 3–13% after adrenal resection. 54 – 56 The authors would suggest only considering cortical-sparing adrenalectomy after previous unilateral adrenal resection, in less aggressive MEN2 variants and in a high-volume endocrine oncology center.…”

Section: Pheochromocytomasmentioning

confidence: 99%

Multiple endocrine neoplasia 2: an overview

Saravana-Bawan

Pasternak

2022

Therapeutic Advances in Chronic Disease

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This review article discusses the diagnosis and treatment of patients with multiple endocrine neoplasia type 2 (MEN2). The most common tumors associated with MEN2 are those of the parathyroid, thyroid, and adrenal glands. Additional manifestations include characteristic clinical phenotypes or features as described in the article. This review provides an overview of clinical manifestations, screening, diagnosis, treatment, and surveillance of patients with MEN2.

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“…15,[29][30][31] Afortunadamente, los síndromes CMT/NEM2-NEM3 son patologías poco frecuentes 32,33 que se relacionan etnográficamente y cuyas mutaciones se siguen transmitiendo en la actualidad. 34 Lo anterior se demuestra por los escasos datos publicados, que representan un lapsus por la rareza de la frecuencia de estos síndromes, o bien, por las tendencias de la ciencia, [35][36][37] de ahí que se exhorte a incrementar los estudios sobre estas patologías.…”

Section: Familias Mexicanas Con Cmt/nem2unclassified

Diagnóstico mutacional del gen <i>RET</i> y la medicina de precisión en México

Martínez-Castillo¹,

Zárate²,

Valenzuela-Pérez³

et al. 2022

GMM

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La medicina de precisión en algunas enfermedades es una realidad; respalda el desarrollo de métodos diagnósticos certeros y específicos, de nuevas drogas y moléculas. Nuestro equipo de investigación en México, conformado por investigadores clínicos y biomédicos, desde hace 20 años realiza de forma gratuita el diagnóstico mutacional del gen RET y su relación con el cáncer medular de tiroides y la neoplasia endocrina múltiple (NEM) 2 y 3. Las variantes patogénicas de RET en la población mexicana coinciden con los datos reportados: la mayoría con 634/NEM2 y 918/NEM3. Actualmente se están desarrollando nuevos métodos de nanobiotecnología para este tipo de determinaciones, de tal forma que puedan obtenerse resultados más rápidos, simples, sensibles y específicos aplicables en todo tipo de laboratorio.

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100-Year evolution of precision medicine and surgery for multiple endocrine neoplasia type 2A

Cited by 22 publications

References 29 publications

GLOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive review

GLOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive review

Multiple endocrine neoplasia 2: an overview

Diagnóstico mutacional del gen <i>RET</i> y la medicina de precisión en México

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