Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients

M. Torre, G. Martucciello, I. Ceccherini, M. Lerone, M. Aicardi, C. Gambini, V. Jasonni

Research output: Contribution to journalArticle

Abstract

Multiple endocrine neoplasia (MEN) 2B is a hereditary syndrome including medullary thyroid carcinoma (MTC), pheochromocytoma, gastrointestinal (GI) disorders, marfanoid facies, and multiple ganglioneuromas. MTC is the major cause of mortality, and often appears during the 1st decade of life. RET proto-oncogene mutations are responsible for MEN 2B. Other RET mutations cause MEN 2A syndrome, familial MTC, or Hirschsprung's disease. We studied three MEN 2B patients with the aim of delineating the best diagnostic and therapeutic protocol. The gold standards for diagnosis are histochemical study of the rectal mucosa and molecular analysis of RET, which in familial cases detects MEN 2B at a preclinical stage so that early total prophylactic thyroidectomy can be performed. In non-familial cases, the diagnosis can be suggested by the presence of GI symptoms, ganglioneuromas, and/or the typical facies. The intestinal innervation pattern, analyzed with the acetylcholinesterase technique, is pathognomonic for MEN 2B. In our protocol a rectal biopsy is, therefore, the first measure. The surgical treatment of MEN 2B is total thyroidectomy with cervical lymphadenectomy of the central compartment of the neck. When possible, this intervention should be performed prophylactically before 1 year of age.

Original languageEnglish
Pages (from-to)378-383
Number of pages6
JournalPediatric Surgery International
Volume18
Issue number5-6
DOIs
Publication statusPublished - Sep 2002

Fingerprint

Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia
Pediatrics
Ganglioneuroma
Thyroidectomy
Therapeutics
Hirschsprung Disease
Mutation
Proto-Oncogenes
Thyroid Diseases
Pheochromocytoma
Acetylcholinesterase
Lymph Node Excision
Mucous Membrane
Neck
Biopsy
Mortality

Keywords

  • Hirschsprung's disease
  • Medullary thyroid carcinoma
  • Multiple endocrine neoplasia 2B
  • RET proto-oncogene
  • Thyroidectomy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients. / Torre, M.; Martucciello, G.; Ceccherini, I.; Lerone, M.; Aicardi, M.; Gambini, C.; Jasonni, V.

In: Pediatric Surgery International, Vol. 18, No. 5-6, 09.2002, p. 378-383.

Research output: Contribution to journalArticle

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