Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC

Frank‐Raue, Karin; Rondot, Susanne; Raue, Friedhelm

doi:10.1016/j.mce.2010.01.012

Cited by 96 publications

(57 citation statements)

References 35 publications

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“…Because MTC metastasizes rapidly, early prophylactic treatment is imperative (53). Original guidelines recommended a prophylactic thyroidectomy between 5 and 10 years of age in MEN2A and FMTC families.…”

Section: Genetic Basis For Treatmentmentioning

confidence: 99%

Integrating surgery and genetic testing for the modern surgeon

Caso¹,

Beamer²,

Lofthus³

et al. 2017

Annals of Translational Medicine

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The field of cancer genetics is rapidly evolving and several genetic mutations have been identified in hereditary cancer syndromes. These mutations can be diagnosed via routine genetic testing allowing prompt intervention. This is especially true for certain variants of colorectal, breast, and thyroid cancers where genetic testing may guide surgical therapy. Ultimately, surgical intervention may drastically diminish disease manifestation or progression in individuals deemed as high-risk based on their genetic makeup.Understanding the concepts of gene-based testing and integrating into current surgical practice is crucial.This review addresses common genetic syndromes, tests, and interventions salient to the current surgeon.

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Section: Genetic Basis For Treatmentmentioning

confidence: 99%

Integrating surgery and genetic testing for the modern surgeon

Caso¹,

Beamer²,

Lofthus³

et al. 2017

Annals of Translational Medicine

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“…Because genetic association studies are critically dependent on definite clinical case definitions of the disease of interest, more penetrant RET mutations were overrepresented in early MEN2 studies ( Fig. 1; Eng et al 1996, Frank-Raue et al 2010, Machens et al 2013a, including the International MEN2 Consortium analysis (Eng et al 1996):…”

Section: Introductionmentioning

confidence: 99%

Advances in risk-oriented surgery for multiple endocrine neoplasia type 2

Machens¹,

Dralle²

2018

Endocrine-Related Cancer

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Genetic association studies hinge on definite clinical case definitions of the disease of interest. This is why more penetrant mutations were overrepresented in early multiple endocrine neoplasia type 2 (MEN2) studies, whereas less penetrant mutations went underrepresented. Enrichment of genetic association studies with advanced disease may produce a flawed understanding of disease evolution, precipitating far-reaching surgical strategies like bilateral total adrenalectomy and 4-gland parathyroidectomy in MEN2. The insight into the natural course of the disease gleaned over the past 25 years caused a paradigm shift in MEN2: from the removal of target organs at the expense of greater operative morbidity to close biochemical surveillance and targeted resection of adrenal tumors and hyperplastic parathyroid glands. The lead time provided by early identification of asymptomatic MEN2 carriers under biochemical surveillance delimits a 'window of opportunity', within which (i) pre-emptive total thyroidectomy alone is adequate, circumventing morbidity attendant to central node dissection; (ii) subtotal 'tissue-sparing' adrenalectomy is sufficient, trading the risk of steroid dependency for the risk of a second pheochromocytoma in the adrenal remnant and (iii) parathyroidectomy is limited to enlarged glands, trading the risk of postoperative hypoparathyroidism for the risk of leaving behind hyperactive parathyroid glands. Future research should delineate further the mutation-specific, age-dependent penetrance of pheochromocytoma and primary hyperparathyroidism to refine the risk-oriented approach to MEN2. The sweeping changes in the management of MEN2 since the new millenium hold the hope that death and major morbidity from this uncommon disease can be eliminated in our lifetime.

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“…Medullary thyroid cancer (MTC) arises from calcitonin secreting parafollicular C cells of thyroid and accounts for 3-5% of all thyroid cancers [1][2][3]. The disease in ultrasound imaging does not differ from other type of tumour [4].…”

Section: Introductionmentioning

confidence: 99%

Częstość występowania mutacji somatycznych RAS w raku rdzeniastym tarczycy — analiza populacji polskiej

Oczko‐Wojciechowska

Pfeifer

Rusinek

et al. 2015

Endokrynologia Polska

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Introduction: Somatic RET mutations are detectable in two-thirds of sporadic cases of medullary thyroid cancer (MTC). Recent studies reported a high proportion of RAS somatic mutations in RET negative tumours, which may indicate RAS mutation as a possible alternative genetic event in sporadic MTC tumorigenesis. Thus, the aim of the study was to evaluate the frequency of somatic RAS mutations in sporadic medullary thyroid cancer in the Polish population and to relate the obtained data to the presence of somatic RET mutations. Material and methods: Somatic mutations (RET, RAS genes) were evaluated in 78 snap-frozen MTC samples (57 sporadic and 21 hereditary) by direct sequencing. Next, three randomly selected RET-negative MTC samples were analysed by the next generation sequencing. Results: RAS mutation was detected in 26.5% of 49 sporadic MTC tumours. None of all the analysed samples showed N-RAS mutation. When only RET-negative samples were considered, the prevalence of RAS mutation was 68.7%, compared to 6% observed in RET-positive samples. Most of these mutations were located in H-RAS codon 61 (72%). None of 21 hereditary MTC samples showed any RAS mutations.

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Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC

Cited by 96 publications

References 35 publications

Integrating surgery and genetic testing for the modern surgeon

Integrating surgery and genetic testing for the modern surgeon

Advances in risk-oriented surgery for multiple endocrine neoplasia type 2

Częstość występowania mutacji somatycznych RAS w raku rdzeniastym tarczycy — analiza populacji polskiej

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