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Horm Metab Res 2011; 43(11): 794-800
DOI: 10.1055/s-0031-1286324
Humans, Clinical
© Georg Thieme Verlag KG Stuttgart · New York

Clinical and Prognostic Implications of the Genetic Diagnosis of Hereditary NET Syndromes in Asymptomatic Patients

V. Ramundo
1   Department of Molecular and Clinical Endocrinology and Oncology, “Federico II” University, Naples, Italy
,
F. Milone
1   Department of Molecular and Clinical Endocrinology and Oncology, “Federico II” University, Naples, Italy
,
R. Severino
1   Department of Molecular and Clinical Endocrinology and Oncology, “Federico II” University, Naples, Italy
,
S. Savastano
1   Department of Molecular and Clinical Endocrinology and Oncology, “Federico II” University, Naples, Italy
,
C. Di Somma
2   IRCCS Fondazione SDN, Naples, Italy
,
L. Vuolo
1   Department of Molecular and Clinical Endocrinology and Oncology, “Federico II” University, Naples, Italy
,
L. De Luca
3   Gastrointestinal Unit, Pellegrini Hospital, Naples, Italy
,
G. Lombardi
1   Department of Molecular and Clinical Endocrinology and Oncology, “Federico II” University, Naples, Italy
,
A. Colao
1   Department of Molecular and Clinical Endocrinology and Oncology, “Federico II” University, Naples, Italy
,
A. Faggiano
2   IRCCS Fondazione SDN, Naples, Italy
› Author Affiliations
Further Information

Publication History

received 02 March 2011

accepted 16 August 2011

Publication Date:
18 October 2011 (online)

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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<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.

Key words

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

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