Thyroid: Medullary carcinoma

Somnay, Yash R.; Mazeh, Haggi

doi:10.4267/2042/48876

Cited by 7 publications

(8 citation statements)

References 24 publications

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“…In our study, 25.9% of patients with MTC harbored a germline RET mutation. The result is in accordance with other published reports, where the prevalence of inherited MTC was 20%-25% ( 2 ). The mutations were discovered in exons 10, 11, 13, 14, and 16, while exons 8 and 9 were not tested in the investigated period.…”

Section: Discussionsupporting

confidence: 93%

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Crude annual incidence rate of medullary thyroid cancer and RET mutation frequency

Milicevic¹,

Bergant²,

Žagar³

et al. 2021

Croat Med J

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Aim To determine the frequency and type of RET mutation in Slovenian medullary thyroid cancer (MTC) patients and estimate the crude annual incidence of MTC in Slovenia.Methods This referral-center retrospective analysis involved 186 MTC patients diagnosed between 1995 and 2015 and their relatives who underwent genetic counseling and testing. The crude incidence rate of MTC was estimated with the joinpoint regression analysis. Genomic DNA was isolated, and exons 10, 11, 13, 14, 15, and 16 of the RET proto-oncogene were amplified with polymerase chain reaction. Point mutations of the RET gene were detected by single-strand conformation analysis and DNA sequencing. Detected mutations were confirmed by restriction enzymes. ResultsThe average crude annual incidence rate of MTC in Slovenia was 0.34/100,000. A germline mutation in the RET proto-oncogene was identified in 25.9% of MTC patients. The most frequently altered codons were codons 634 and 618, followed by codon 790, codon 804, and codon 918. ConclusionsAnnual incidence increase and nation-specific frequency of RET mutations justify the future use of genetic counseling and testing of MTC patients in Slovenia.

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Section: Discussionsupporting

confidence: 93%

“…It occurs in either sporadic (75%) or hereditary form (25%) as a part of multiple endocrine neoplasia type 2 syndrome (MEN 2). MEN 2 results from an autosomal dominant, missense, gain-of-function mutation in the rearranged during transfection ( RET ) proto-oncogene ( 2 ). The syndrome has two subtypes: MEN 2A and MEN 2B.…”

mentioning

confidence: 99%

Crude annual incidence rate of medullary thyroid cancer and RET mutation frequency

Milicevic¹,

Bergant²,

Žagar³

et al. 2021

Croat Med J

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“…Few chemotherapeutic options are available for patients with metastatic MTC that cannot be cured by surgery. [ 19 ] To date, no specific treatments have been developed for pycnodysostosis. It is critical to emphasize and promote supportive management and prophylactic measures to prevent fracture occurrence and maintain oral hygiene.…”

Section: Discussionmentioning

confidence: 99%

Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma

Shi¹,

Huang

Xiao³

et al. 2017

Medicine

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“…Medullary thyroid carcinoma (MTC) originates from the parafollicular C-cells of the thyroid gland and constitutes approximately 5% to 8% of all thyroid cancer. [1] Compared with the most common histotype of thyroid cancer, papillary thyroid carcinoma, which accounts for 80% of thyroid malignancies, [2] MTC is usually more aggressive with a higher risk of hematogenous metastasis. [3] Common metastatic sites of MTC include the lung, liver and bones, and secondary tumors in other organs, such as the breast, are rarely reported.…”

Section: Introductionmentioning

confidence: 99%

Medullary thyroid carcinoma with breast metastasis

Meng¹,

Chen

Tian

et al. 2018

Medicine

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Rationale: Medullary thyroid carcinoma (MTC) is an aggressive subtype of thyroid cancer with frequent hematogenous metastasis. While its metastasis is usually observed in the lung, liver, or bone, it rarely migrates to the breast. Patient concerns: Here we report 2 cases with a complaint of breast lump after initial treatment of MTC. Diagnoses: In both patients, the MTC characteristics of breast nodules were confirmed by pathologic analysis of biopsy specimens. Interventions: The genetic mutations within the metastatic breast lesion were evaluated. Wide local excision was thus performed to 1st case, while no therapeutic intervention for another patient due to the wide-spread presence of the disease. Outcomes: No sign of relapse or metastasis was found in 1st case during a 14-month follow-up. For 2nd case, the breast nodule grew to 14 mm within 3 months before remaining stable for 10 months. Lessons: MTC can be a very indolent disease despite its aggressiveness. Reoperation should be considered for patients with local recurrence or resectable distant metastasis of MTC. The findings for both cases supported serum calcitonin as an important marker for the evaluation of disease. Future studies are needed to advance our understanding of its molecular features and improve strategies for its diagnosis and treatment.

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Thyroid: Medullary carcinoma

Cited by 7 publications

References 24 publications

Crude annual incidence rate of medullary thyroid cancer and RET mutation frequency

Crude annual incidence rate of medullary thyroid cancer and RET mutation frequency

Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma

Medullary thyroid carcinoma with breast metastasis

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