Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1

Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1

CDKN1B encodes the cyclin-dependent kinase inhibitor p27/Kip1. CDKN1B mutations and polymorphisms are involved in tumorigenesis; specifically, the V109G single nucleotide polymorphism has been linked to different tumours with controversial results. Multiple endocrine neoplasia type 1 (MEN1) is a rar...

Full description

Bibliographic Details
Main Authors: Circelli, Luisa, Ramundo, Valeria, Marotta, Vincenzo, Sciammarella, Concetta, Marciello, Francesca, Del Prete, Michela, Sabatino, Lina, Pasquali, Daniela, Izzo, Francesco, Scala, Stefania, Colao, Annamaria, Faggiano, Antongiulio, Colantuoni, Vittorio
Format: Online
Language:English
Published: John Wiley & Sons, Ltd 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511370/
id pubmed-4511370
recordtype oai_dc
spelling pubmed-45113702015-07-28 Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1 Circelli, Luisa Ramundo, Valeria Marotta, Vincenzo Sciammarella, Concetta Marciello, Francesca Del Prete, Michela Sabatino, Lina Pasquali, Daniela Izzo, Francesco Scala, Stefania Colao, Annamaria Faggiano, Antongiulio Colantuoni, Vittorio Original Articles CDKN1B encodes the cyclin-dependent kinase inhibitor p27/Kip1. CDKN1B mutations and polymorphisms are involved in tumorigenesis; specifically, the V109G single nucleotide polymorphism has been linked to different tumours with controversial results. Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant syndrome, characterized by the development of different types of neuroendocrine tumours and increased incidence of other malignancies. A clear genotype–phenotype correlation in MEN1 has not been established yet. In this study, we assessed whether the CDKN1B V109G polymorphism was associated with the development of aggressive tumours in 55 consecutive patients affected by MEN1. The polymorphism was investigated by PCR amplification of germline DNA followed by direct sequencing. Baseline and follow-up data of tumour types and their severity were collected and associated with the genetic data. MEN1-related aggressive and other malignant tumours of any origin were detected in 16.1% of wild-type and 33.3% of polymorphism allele-bearing patients (P = NS). The time interval between birth and the first aggressive tumour was significantly shorter in patients with the CDKN1B V109G polymorphism (median 46 years) than in those without (median not reached; P = 0.03). Similarly, shorter was the time interval between MEN1 diagnosis and age of the first aggressive tumour (P = 0.02). Overall survival could not be estimated as 96% patients were still alive at the time of the study. In conclusion, CDKN1B V109G polymorphism seems to play a role in the development of aggressive tumours in MEN1. John Wiley & Sons, Ltd 2015-07 2015-03-30 /pmc/articles/PMC4511370/ /pubmed/25824098 http://dx.doi.org/10.1111/jcmm.12552 Text en © 2015 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine. http://creativecommons.org/licenses/by/4.0/ This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Circelli, Luisa
Ramundo, Valeria
Marotta, Vincenzo
Sciammarella, Concetta
Marciello, Francesca
Del Prete, Michela
Sabatino, Lina
Pasquali, Daniela
Izzo, Francesco
Scala, Stefania
Colao, Annamaria
Faggiano, Antongiulio
Colantuoni, Vittorio
spellingShingle Circelli, Luisa
Ramundo, Valeria
Marotta, Vincenzo
Sciammarella, Concetta
Marciello, Francesca
Del Prete, Michela
Sabatino, Lina
Pasquali, Daniela
Izzo, Francesco
Scala, Stefania
Colao, Annamaria
Faggiano, Antongiulio
Colantuoni, Vittorio
Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1
author_facet Circelli, Luisa
Ramundo, Valeria
Marotta, Vincenzo
Sciammarella, Concetta
Marciello, Francesca
Del Prete, Michela
Sabatino, Lina
Pasquali, Daniela
Izzo, Francesco
Scala, Stefania
Colao, Annamaria
Faggiano, Antongiulio
Colantuoni, Vittorio
author_sort Circelli, Luisa
title Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1
title_short Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1
title_full Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1
title_fullStr Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1
title_full_unstemmed Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1
title_sort prognostic role of the cdnk1b v109g polymorphism in multiple endocrine neoplasia type 1
description CDKN1B encodes the cyclin-dependent kinase inhibitor p27/Kip1. CDKN1B mutations and polymorphisms are involved in tumorigenesis; specifically, the V109G single nucleotide polymorphism has been linked to different tumours with controversial results. Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant syndrome, characterized by the development of different types of neuroendocrine tumours and increased incidence of other malignancies. A clear genotype–phenotype correlation in MEN1 has not been established yet. In this study, we assessed whether the CDKN1B V109G polymorphism was associated with the development of aggressive tumours in 55 consecutive patients affected by MEN1. The polymorphism was investigated by PCR amplification of germline DNA followed by direct sequencing. Baseline and follow-up data of tumour types and their severity were collected and associated with the genetic data. MEN1-related aggressive and other malignant tumours of any origin were detected in 16.1% of wild-type and 33.3% of polymorphism allele-bearing patients (P = NS). The time interval between birth and the first aggressive tumour was significantly shorter in patients with the CDKN1B V109G polymorphism (median 46 years) than in those without (median not reached; P = 0.03). Similarly, shorter was the time interval between MEN1 diagnosis and age of the first aggressive tumour (P = 0.02). Overall survival could not be estimated as 96% patients were still alive at the time of the study. In conclusion, CDKN1B V109G polymorphism seems to play a role in the development of aggressive tumours in MEN1.
publisher John Wiley & Sons, Ltd
publishDate 2015
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511370/
_version_ 1613250804195524608

Similar Items