Document Detail


Clinical and Prognostic Implications of the Genetic Diagnosis of Hereditary NET Syndromes in Asymptomatic Patients.
MedLine Citation:
PMID:  22009375     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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<0.01). Both symptoms related to tumors and symptoms related to therapies were significantly less frequent in group B than in group A (p<0.05). Tumor stage was locally advanced or metastatic in 50% of group A and in no one of group B (p<0.01). The mortality rate was 25% in group A and 0% in group B (p<0.05). An early genetic screening for hereditary NET syndromes results in an improvement in clinical presentation and morbidity. A potential impact of the genetic screening on the mortality rate of these subjects is suggested and needs to be investigated in further and more appropriate studies.
Authors:
V Ramundo; F Milone; R Severino; S Savastano; C Di Somma; L Vuolo; L De Luca; G Lombardi; A Colao; A Faggiano
Related Documents :
7286915 - "transitional" and hyperplastic-metaplastic mucosa occurring in solitary ulcer of the r...
11815335 - The incidence and pathology of conjunctival ulceration in behçet's syndrome.
20827045 - [a bleeding ileal ulcer associated with sweet's syndrome].
601645 - The giant duodenal ulcer syndrome.
8065615 - Hypersensitivity.
2737375 - Neonatal respiratory depression and delay in diagnosis in prader-willi syndrome.
Publication Detail:
Type:  Journal Article     Date:  2011-10-18
Journal Detail:
Title:  Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme     Volume:  43     ISSN:  1439-4286     ISO Abbreviation:  Horm. Metab. Res.     Publication Date:  2011 Oct 
Date Detail:
Created Date:  2011-10-19     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0177722     Medline TA:  Horm Metab Res     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  794-800     Citation Subset:  IM    
Copyright Information:
© Georg Thieme Verlag KG Stuttgart · New York.
Affiliation:
Department of Molecular and Clinical Endocrinology and Oncology.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  The prevalence and predictors of gestational diabetes mellitus in hungary.
Next Document:  Systemic Blockade of TNF-? does not Improve Insulin Resistance in Humans.