Multiple endocrine neoplasias type 2B and RET proto-oncogene.

Giuseppe Martucciello, Margherita Lerone, Lara Bricco, Gian Paolo Tonini, Laura Lombardi, Carmine G. Del Rossi, Sergio Bernasconi

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears during the first years of life. RET proto-oncogene germline activating mutations are causative for MEN 2B. The 95% of MEN 2B patients are associated with a point mutation in exon 16 (M918/T). A second point mutation at codon 883 has been found in 2%-3% of MEN 2B cases. RET proto-oncogene is also involved in different neoplastic and not neoplastic neurocristopathies. Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expression is also involved in Neuroblastoma. The main diagnosis standards are the acetylcholinesterase study of rectal mucosa and the molecular analysis of RET. In our protocol the rectal biopsy is, therefore, the first approach. RET mutation detection offers the possibility to diagnose MEN 2B predisposition at a pre-clinical stage in familial cases, and to perform an early total prophylactic thyroidectomy. The surgical treatment of MEN 2B is total thyroidectomy with cervical limphadenectomy of the central compartment of the neck. When possible, this intervention should be performed with prophylactic aim before 1 year of age in patients with molecular genetic diagnosis. Recent advances into the mechanisms of RET proto-oncogene signaling and pathways of RET signal transduction in the development of MEN 2 and MTC will allow new treatment possibilities.

Original languageEnglish
Pages (from-to)9
Number of pages1
JournalItalian Journal of Pediatrics
Volume38
DOIs
Publication statusPublished - 2012

Fingerprint

Multiple Endocrine Neoplasia Type 2b
Proto-Oncogenes
Multiple Endocrine Neoplasia Type 2a
Thyroidectomy
Point Mutation
Ganglioneuroma
Multiple Endocrine Neoplasia
Hirschsprung Disease
Mutation
Germ-Line Mutation
Thyroid Diseases
Pheochromocytoma
Acetylcholinesterase
Neuroblastoma
Codon
Molecular Biology
Exons
Signal Transduction
Mucous Membrane
Neck

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Martucciello, G., Lerone, M., Bricco, L., Tonini, G. P., Lombardi, L., Del Rossi, C. G., & Bernasconi, S. (2012). Multiple endocrine neoplasias type 2B and RET proto-oncogene. Italian Journal of Pediatrics, 38, 9. https://doi.org/10.1186/1824-7288-38-9

Multiple endocrine neoplasias type 2B and RET proto-oncogene. / Martucciello, Giuseppe; Lerone, Margherita; Bricco, Lara; Tonini, Gian Paolo; Lombardi, Laura; Del Rossi, Carmine G.; Bernasconi, Sergio.

In: Italian Journal of Pediatrics, Vol. 38, 2012, p. 9.

Research output: Contribution to journalArticle

Martucciello, G, Lerone, M, Bricco, L, Tonini, GP, Lombardi, L, Del Rossi, CG & Bernasconi, S 2012, 'Multiple endocrine neoplasias type 2B and RET proto-oncogene.', Italian Journal of Pediatrics, vol. 38, pp. 9. https://doi.org/10.1186/1824-7288-38-9
Martucciello, Giuseppe ; Lerone, Margherita ; Bricco, Lara ; Tonini, Gian Paolo ; Lombardi, Laura ; Del Rossi, Carmine G. ; Bernasconi, Sergio. / Multiple endocrine neoplasias type 2B and RET proto-oncogene. In: Italian Journal of Pediatrics. 2012 ; Vol. 38. pp. 9.
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