Clinical and prognostic implications of the genetic diagnosis of hereditary NET syndromes in asymptomatic patients

V. Ramundo, F. Milone, R. Severino, S. Savastano, C. Di Somma, L. Vuolo, L. De Luca, G. Lombardi, A. Colao, A. Faggiano

Research output: Contribution to journalArticlepeer-review

Abstract

Neuroendocrine tumors (NETs) can be sporadic or they can arise in complex hereditary syndromes. Patients with hereditary NETs can be identified before the development of tumors by performing genetic screenings. The aim of the study was to evaluate the clinical and prognostic impact of a preclinical genetic screening in subjects with hereditary NET syndromes. 46 subjects referred for hereditary NET syndrome [22 MEN1, 12 MEN2, 12 Familial Paragangliomatosis (FPGL)] were enrolled and divided in 2 groups (group A, 20 subjects with clinical appearance of NET before the genetic diagnosis; group B, 26 subjects with genetic diagnosis of hereditary NET syndromes before the clinical appearance of NETs). The main outcome measures were severity of disease, prognosis, and survival. The rate of surgery for MEN1-, MEN2-, FPGL4-related tumors was 90% in group A and 35% in group B (p

Original languageEnglish
Pages (from-to)794-800
Number of pages7
JournalHormone and Metabolic Research
Volume43
Issue number11
DOIs
Publication statusPublished - 2011

Keywords

  • genetic analysis
  • hereditary tumor
  • MEN1
  • MEN2
  • neuroendocrine tumor
  • paragangliomatosis

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical
  • Endocrinology, Diabetes and Metabolism

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