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Thyroid and Parathyroid Pathology
Published in R James A England, Eamon Shamil, Rajeev Mathew, Manohar Bance, Pavol Surda, Jemy Jose, Omar Hilmi, Adam J Donne, Scott-Brown's Essential Otorhinolaryngology, 2022
MTC is a calcitonin-secreting malignant tumour arising from parafollicular/C cells. It can occur sporadically or in the context of a mutation of the RET proto-oncogene (seen in multiple endocrine neoplasia and familial MTC). Microscopically, tumours can be well demarcated or infiltrative and comprise solid sheets, nests, and trabecula of cells separated by fibrovascular septa. There is usually only modest nuclear pleomorphism, but necrosis may be a feature. Amyloid protein deposition is present in around 80% of cases.
Thyroid
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2020
The RET proto-oncogene is a 21-exon gene on chromosome 10q 11-2 that encodes for a tyrosine kinase transmembrane receptor. The goal of screening for MEN II is to identify gene carriers early in an attempt to modify the outcome of the disease. The two manifestations that are life-threatening are MTC and pheochromocytoma. There is compelling evidence for both that early intervention will improve outcome.141
Thyroid disease
Published in Neeraj Sethi, R. James A. England, Neil de Zoysa, Head, Neck and Thyroid Surgery, 2020
Additionally, the BRAF and TERT mutations have been implicated with poorer prognosis in papillary thyroid carcinoma. Inherited mutations in the RET proto-oncogene are associated with the development of medullary thyroid cancer and account for approximately one out of four cases. This may or may not be part of the multiple endocrine neoplasia complex (type 2). In addition, the risk of developing thyroid cancer is higher if previously diagnosed in a first-degree relative.
MEN 2B masquerading as chronic blepharitis and euryblepharon
Published in Orbit, 2019
Alison B. Huggins, Jacqueline R. Carrasco, Ralph C. Eagle
In the mid-1990s, the causal gene of MEN 2B was identified as the REarranged during transfection (RET) proto-oncogene on chromosome 10.1 Mutations in the RET proto-oncogene can result in MEN 2B or three alternative syndromes: MEN 2A, Hirschsprung disease, or familial MTC.5 The RET proto-oncogene encodes a tyrosine kinase transmembrane receptor expressed in tissues derived from neural crest origin.5 Mutation results in disrupted signaling for cell growth and differentiation in these tissues. More than 90% of MEN 2B patients have substitution of threonine for methionine at codon 918 (Met918Thr).5 Of interest here, the presented patient had no family history of MEN 2B or endocrine neoplasias despite its autosomal dominant inheritance pattern. This is not surprising since 50% of patients with MEN 2B actually have sporadic mutations in the RET proto-oncogene.6 In sporadic cases, the RET mutation invariably occurs in a paternal allele, suggesting that paternal age plays role in sporadic disease development.6
Discovery, preclinical development, and clinical application of pralsetinib in the treatment of thyroid cancer
Published in Expert Opinion on Drug Discovery, 2022
Pietro Locantore, Roberto Novizio, Andrea Corsello, Rosa Maria Paragliola, Alfredo Pontecorvi, Salvatore Maria Corsello
Rearranged during transfection (RET) proto-oncogene is expressed in cell of neuroectodermal derivation, and its product has a key role during embryonal development, especially for the enteric nervous system and kidney morphogenesis [1]. In neural crest cells, RET is required for proliferation, differentiation, and survival, while in motoneurons RET is involved in survival and connectivity. Moreover, it has a regulatory function in hematopoietic and spermatogenetic cells. Because of this pleiotropic role, RET alterations can cause many disorders, including autoimmune, cardiovascular, nervous system, inflammatory diseases, and above all a high number of malignancies.
Secondary and tertiary preventions of thyroid disease
Published in Endocrine Research, 2018
Fereidoun Azizi, Ladan Mehran, Farhad Hosseinpanah, Hossein Delshad, Atieh Amouzegar
The RET proto-oncogene is a trans membrane thyrosine kinase receptor and the RET gene plays a unique role in thyroid oncogenesis. The germ line mutations of this gene are involved in the development of MTC. Approximately 25% of sporadic MTC patients have a somatic RET proto-oncogene mutation identical to the germ line mutation that causes MEN 2B.64,65 Therefore, it has been suggested that all patients with apparently sporadic MTC have a DNA analysis for RET mutations.66 Identification of germline mutation in patients with MTC mandates mutation analysis in their offspring or relatives for earlier detection of family members at risk.