TY - JOUR
T1 - Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors
AU - Roversi, Gaia
AU - Picinelli, Chiara
AU - Bestetti, Ilaria
AU - Crippa, Milena
AU - Perotti, Daniela
AU - Ciceri, Sara
AU - Saccheri, Fabiana
AU - Collini, Paola
AU - Poliani, Pietro L.
AU - Catania, Serena
AU - Peissel, Bernard
AU - Pagni, Fabio
AU - Russo, Silvia
AU - Peterlongo, Paolo
AU - Manoukian, Siranoush
AU - Finelli, Palma
PY - 2015/10/20
Y1 - 2015/10/20
N2 - 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.
AB - 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.
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U2 - 10.1038/srep15454
DO - 10.1038/srep15454
M3 - Article
AN - SCOPUS:84945237290
VL - 5
JO - Scientific Reports
JF - Scientific Reports
SN - 2045-2322
M1 - 15454
ER -