Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

Gaia Roversi, Chiara Picinelli, Ilaria Bestetti, Milena Crippa, Daniela Perotti, Sara Ciceri, Fabiana Saccheri, Paola Collini, Pietro L. Poliani, Serena Catania, Bernard Peissel, Fabio Pagni, Silvia Russo, Paolo Peterlongo, Siranoush Manoukian, Palma Finelli

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article number15454
JournalScientific Reports
Volume5
DOIs
Publication statusPublished - Oct 20 2015

ASJC Scopus subject areas

  • General

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