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Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors
Multiple primary malignant neoplasms are rare entities in the clinical setting, but represent an important issue in the clinical management of patients since they could be expression of a genetic predisposition to malignancy. A high resolution genome wide array CGH led us to identify the first case...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4612309/ https://www.ncbi.nlm.nih.gov/pubmed/26482194 http://dx.doi.org/10.1038/srep15454 |
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author | Roversi, Gaia Picinelli, Chiara Bestetti, Ilaria Crippa, Milena Perotti, Daniela Ciceri, Sara Saccheri, Fabiana Collini, Paola Poliani, Pietro L. Catania, Serena Peissel, Bernard Pagni, Fabio Russo, Silvia Peterlongo, Paolo Manoukian, Siranoush Finelli, Palma |
author_facet | Roversi, Gaia Picinelli, Chiara Bestetti, Ilaria Crippa, Milena Perotti, Daniela Ciceri, Sara Saccheri, Fabiana Collini, Paola Poliani, Pietro L. Catania, Serena Peissel, Bernard Pagni, Fabio Russo, Silvia Peterlongo, Paolo Manoukian, Siranoush Finelli, Palma |
author_sort | Roversi, Gaia |
collection | PubMed |
description | Multiple primary malignant neoplasms are rare entities in the clinical setting, but represent an important issue in the clinical management of patients since they could be expression of a genetic predisposition to malignancy. A high resolution genome wide array CGH led us to identify the first case of a de novo constitutional deletion confined to the FBXW7 gene, a well known tumor suppressor, in a patient with a syndromic phenotype characterized by focal segmental glomerulosclerosis and multiple primary early/atypical onset tumors, including Hodgkin’s lymphoma, Wilms tumor and breast cancer. Other genetic defects may be associated with patient’s phenotype. In this light, constitutional mutations at BRCA1, BRCA2, TP53, PALB2 and WT1 genes were excluded by performing sequencing and MLPA analysis; similarly, we ruled out constitutional abnormalities at the imprinted 11p15 region by methylation specific -MLPA assay. Our observations sustain the role of FBXW7 as cancer predisposition gene and expand the spectrum of its possible associated diseases. |
format | Online Article Text |
id | pubmed-4612309 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-46123092015-11-02 Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors Roversi, Gaia Picinelli, Chiara Bestetti, Ilaria Crippa, Milena Perotti, Daniela Ciceri, Sara Saccheri, Fabiana Collini, Paola Poliani, Pietro L. Catania, Serena Peissel, Bernard Pagni, Fabio Russo, Silvia Peterlongo, Paolo Manoukian, Siranoush Finelli, Palma Sci Rep Article Multiple primary malignant neoplasms are rare entities in the clinical setting, but represent an important issue in the clinical management of patients since they could be expression of a genetic predisposition to malignancy. A high resolution genome wide array CGH led us to identify the first case of a de novo constitutional deletion confined to the FBXW7 gene, a well known tumor suppressor, in a patient with a syndromic phenotype characterized by focal segmental glomerulosclerosis and multiple primary early/atypical onset tumors, including Hodgkin’s lymphoma, Wilms tumor and breast cancer. Other genetic defects may be associated with patient’s phenotype. In this light, constitutional mutations at BRCA1, BRCA2, TP53, PALB2 and WT1 genes were excluded by performing sequencing and MLPA analysis; similarly, we ruled out constitutional abnormalities at the imprinted 11p15 region by methylation specific -MLPA assay. Our observations sustain the role of FBXW7 as cancer predisposition gene and expand the spectrum of its possible associated diseases. Nature Publishing Group 2015-10-20 /pmc/articles/PMC4612309/ /pubmed/26482194 http://dx.doi.org/10.1038/srep15454 Text en Copyright © 2015, Macmillan Publishers Limited http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
spellingShingle | Article Roversi, Gaia Picinelli, Chiara Bestetti, Ilaria Crippa, Milena Perotti, Daniela Ciceri, Sara Saccheri, Fabiana Collini, Paola Poliani, Pietro L. Catania, Serena Peissel, Bernard Pagni, Fabio Russo, Silvia Peterlongo, Paolo Manoukian, Siranoush Finelli, Palma Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors |
title | Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors |
title_full | Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors |
title_fullStr | Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors |
title_full_unstemmed | Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors |
title_short | Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors |
title_sort | constitutional de novo deletion of the fbxw7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4612309/ https://www.ncbi.nlm.nih.gov/pubmed/26482194 http://dx.doi.org/10.1038/srep15454 |
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