Critically evaluated key points on hereditary medullary thyroid carcinoma

Medullary thyroid carcinoma (MTC) accounts for only 3% of all thyroid carcinomas: 75% as sporadic MTC (sMTC) and 25% as hereditary MTC (hMTC) in the context of multiple endocrine neoplasia type 2 (MEN2). Early diagnosis is possible by determining the tumour marker calcitonin (Ctn) when clarifying no...

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Published in:Frontiers in endocrinology (Lausanne) Vol. 15; p. 1412942
Main Authors: Zhang, Daqi, Liang, Nan, Sun, Hui, Frattini, Francesco, Sui, Chengqiu, Yang, Mingyu, Wang, Hongbo, Dionigi, Gianlorenzo
Format: Journal Article
Language:English
Published: Switzerland Frontiers Media S.A 2024
Subjects:
Biomarkers, Tumor - genetics
Biomarkers, Tumor - metabolism
calcitonin
Calcitonin - metabolism
Carcinoma, Medullary - congenital
Carcinoma, Medullary - diagnosis
Carcinoma, Medullary - genetics
Carcinoma, Medullary - pathology
Carcinoma, Medullary - therapy
Carcinoma, Neuroendocrine - diagnosis
Carcinoma, Neuroendocrine - genetics
Carcinoma, Neuroendocrine - pathology
CEA
hereditary
Humans
medullary thyroid carcinoma
men
Multiple Endocrine Neoplasia Type 2a - diagnosis
Multiple Endocrine Neoplasia Type 2a - genetics
Multiple Endocrine Neoplasia Type 2a - pathology
Multiple Endocrine Neoplasia Type 2a - therapy
Mutation
Proto-Oncogene Mas
Proto-Oncogene Proteins c-ret - genetics
thyroid
Thyroid Neoplasms - diagnosis
Thyroid Neoplasms - genetics
Thyroid Neoplasms - pathology
Thyroid Neoplasms - therapy
Thyroidectomy
pathology
calcitonin
thyroid
men
diagnosis
hereditary
medullary thyroid carcinoma
CEA
ISSN:1664-2392, 1664-2392
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Summary:Medullary thyroid carcinoma (MTC) accounts for only 3% of all thyroid carcinomas: 75% as sporadic MTC (sMTC) and 25% as hereditary MTC (hMTC) in the context of multiple endocrine neoplasia type 2 (MEN2). Early diagnosis is possible by determining the tumour marker calcitonin (Ctn) when clarifying nodular goitre and by detecting the mutation in the proto-oncogene RET in the MEN2 families. If the Ctn level is only slightly elevated, up to 30 pg/ml in women and up to 60 pg/ml in men, follow-up checks are advisable. At higher levels, surgery should be considered; at a level of > 100 pg/ml, surgery is always advisable. The treatment of choice is total thyroidectomy, possibly with central lymphadenectomy. In the early stage, cure is possible with adequate surgery; in the late stage, treatment with tyrosine kinase inhibitors is an option. RET A mutation analysis should be performed on all patients with MTC. During follow-up, a biochemical distinction is made between: healed (Ctn not measurably low), biochemically incomplete (Ctn increased without tumour detection) and structural tumour detection (metastases on imaging). After MTC surgery, the following results should be available for classification in follow-up care: (i) histology, Ctn immunohistology if necessary, (ii) classification according to the pTNM scheme, (iii) the result of the RET analysis for categorisation into the hereditary or sporadic variant and (iiii) the postoperative Ctn value. Tumour progression is determined by assessing the Ctn doubling time and the RECIST criteria on imaging. In most cases, “active surveillance” is possible. In the case of progression and symptoms, the following applies: local (palliative surgery, radiotherapy) before systemic (tyrosine kinase inhibitors).
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ISSN:1664-2392
1664-2392
DOI:10.3389/fendo.2024.1412942