The optimal range of RET mutations to be tested: European comments to the guidelines of the American Thyroid Association

Fugazzola, Laura; Leo, Simone De; Perrino, Michela

doi:10.1186/1756-6614-6-s1-s8

Cited by 10 publications

(6 citation statements)

References 34 publications

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“…Genomic DNA was extracted from peripheral blood nucleated cells by the desalting method 55 . Mutation screening was performed according to a standard algorithm approved by the American and European MTC Management Guidelines 19 56 , which assumes the analysis of exons 10, 11, 13, 14, 15 and 16. These exons were sequenced directly using Big Dye 1.1 reagent and a 3130xl Genome Analyser (Life Technologies, Carlsbad, USA).…”

Section: Methodsmentioning

confidence: 99%

Differences in the transcriptome of medullary thyroid cancer regarding the status and type of RET gene mutations

Oczko-Wojciechowska

Świerniak

Krajewska

et al. 2017

Sci Rep

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Medullary thyroid cancer (MTC) can be caused by germline mutations of the RET proto-oncogene or occurs as a sporadic form. It is well known that RET mutations affecting the cysteine-rich region of the protein (MEN2A-like mutations) are correlated with different phenotypes than those in the kinase domain (MEN2B-like mutations). Our aim was to analyse the whole-gene expression profile of MTC with regard to the type of RET gene mutation and the cancer genetic background (hereditary vs sporadic). We studied 86 MTC samples. We demonstrated that there were no distinct differences in the gene expression profiles of hereditary and sporadic MTCs. This suggests a homogeneous nature of MTC. We also noticed that the site of the RET gene mutation slightly influenced the gene expression profile of MTC. We found a significant association between the localization of RET mutations and the expression of three genes: NNAT (suggested to be a tumour suppressor gene), CDC14B (involved in cell cycle control) and NTRK3 (tyrosine receptor kinase that undergoes rearrangement in papillary thyroid cancer). This study suggests that these genes are significantly deregulated in tumours with MEN2A-like and MEN2B-like mutations; however, further investigations are necessary to demonstrate any clinical impact of these findings.

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Section: Methodsmentioning

confidence: 99%

Differences in the transcriptome of medullary thyroid cancer regarding the status and type of RET gene mutations

Oczko-Wojciechowska

Świerniak

Krajewska

et al. 2017

Sci Rep

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“…This goal can be achieved in almost 100% of tumors confined to the thyroid gland without LNM. Once LNM and extrathyroidal growth (20%) are present, the chances of success decrease significantly ( 11 ). Machens et al showed that in MTC, the number of LNM with systematic compartmental lymph node dissection is highly predictive of biochemical remission after surgery ( 12 ).…”

Section: Surgerymentioning

confidence: 99%

Unilateral Surgery for Medullary Thyroid Carcinoma: Seeking for Clinical Practice Guidelines

et al. 2022

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Optimized preoperative diagnostic tools with calcitonin tests, ultrasound features, functional imaging modalities, and genetic testing to detect hereditary forms have led to an increased rate of earlier diagnosis and surgery for medullary thyroid cancer (MTC). This helps to adapt the primary surgery to the tumor stage and avoid surgical overtreatment for localized tumor growth, i.e., deviating from the regularly recommended thyroidectomy with bilateral central lymph node dissection in favor of a limited unilateral approach. To limit primary surgical therapy, it is crucial that the MTC is clinically unifocal, sporadic, and confined to the thyroid, and that calcitonin levels indicate biochemical recovery after surgery. The main requirement for such a limited approach is the availability of frozen section studies that reliably indicate (i) R0 resection of the MTC, (ii) absence of infiltration of the organ capsule, (iii) lack of desmoplasia (i.e., evidence of the metastatic potential of the MTC), (iiii) absence of contralateral disease or precancerous lesions. Informed consent is mandatory from the patient, who has been fully informed of the advantages, disadvantages, and potential risks of not undergoing the “classic” surgical procedure. The aim of this article is to review the guidelines for the management of early-stage MTC.

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“…Genetic testing for RET mutations, widely implemented in a daily practice, significantly reduced the age of MTC diagnosis in affected families and influenced the management [ 161 , 162 ]. The importance of such diagnostics is proved by the fact that an inherited disease was detected in nearly 10% of apparently sporadic MTC patients [ 163 ].…”

Section: Medullary Thyroid Carcinomamentioning

confidence: 99%

Current Advances in Thyroid Cancer Management. Are We Ready for the Epidemic Rise of Diagnoses?

Rusinek

Chmielik

Krajewska

et al. 2017

IJMS

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A rising incidence of thyroid cancers (TCs) mainly small tumors, observed during recent years, lead to many controversies regarding treatment strategies. TCs represent a distinct molecular background and clinical outcome. Although in most cases TCs are characterized by a good prognosis, there are some aggressive forms, which do not respond to standard treatment. There are still some questions, which have to be resolved to avoid dangerous simplifications in the clinical management. In this article, we focused on the current advantages in preoperative molecular diagnostic tests and histopathological examination including noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP). We discussed the controversies regarding the extent of thyroid surgery and adjuvant radioiodine therapy, as well as new treatment modalities for radioiodine-refractory differentiated thyroid cancer (RR-DTC). Considering medullary thyroid cancer (MTC), we analyzed a clinical management based on histopathology and RET (ret proto-oncogene) mutation genotype, disease follow-up with a special attention to serum calcitonin doubling time as an important prognostic marker, and targeted therapy applied in advanced MTC. In addition, we provided some data regarding anaplastic thyroid cancer (ATC), a highly lethal neoplasm, which lead to death in nearly 100% of patients due to the lack of effective treatment options.

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The optimal range of RET mutations to be tested: European comments to the guidelines of the American Thyroid Association

Cited by 10 publications

References 34 publications

Differences in the transcriptome of medullary thyroid cancer regarding the status and type of RET gene mutations

Differences in the transcriptome of medullary thyroid cancer regarding the status and type of RET gene mutations

Unilateral Surgery for Medullary Thyroid Carcinoma: Seeking for Clinical Practice Guidelines

Current Advances in Thyroid Cancer Management. Are We Ready for the Epidemic Rise of Diagnoses?

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