Angela Mastronuzzi, Head of Neuro-Oncology Unit at Bambino Gesù Children’s Hospital and President of AIEOP, shared a post on LinkedIn:
“Just published with Frontiers: “Case Report: The revelation of a new pathogenic variant in the POT1 gene in a patient with a pediatric high-grade glioma and a renal cell carcinoma”
POT1 tumor predisposition syndrome (POT1-TPD, OMIM #615848) is a rare syndrome with autosomal dominant transmission, associated with pathogenic variants in the POT1 (protection of telomeres 1) gene, with unknown penetrance and a lack of established genotype-phenotype correlation.
We present a case of a Caucasian girl who developed two distinct primary tumors: a brain tumor in childhood and a renal tumor in adolescence. To our knowledge, this is the first case of a young adult reported in the literature with a pathogenic variant in the POT1 gene who developed a diffuse glioma with ROS1 fusion at pediatric age and a renal tumor in the young adult stage.
In conclusion, POT1 tumor predisposition syndrome is a rare condition; therefore, further studies are needed to define the risk of developing second cancers with an early onset, such as renal cell carcinoma, in patients diagnosed with a diffuse glioma with ROS1 fusion. A better understanding of risk would improve follow-up strategies in patients and family members sharing POT1 variants.
Special thank you to Fondazione Il Coraggio Dei Bambini for their support. The authors of this paper are members of the European Reference Network on Genetic Tumour Risk syndromes (ERN GENTURIS).”
Title: Case Report: The revelation of a new pathogenic variant in the POT1 gene in a patient with a pediatric high-grade glioma and a renal cell carcinoma
Authors: Selene Cipri, Antonella Cacchione, Annalisa Serra, Giada Del Baldo, Evelina Miele, Lucia Pedace, Sara Patrizi, Federica D’Antonio, Emanuele Agolini, Antonio Novelli, Alessandro Crocoli, Arianna Bertocchini, Andrea Carai, Sabina Barresi, Sabrina Rossi, Rita Alaggio, Francesca Diomedi Camassei, Giovanna Stefania Colafati, Luigi Boccuto, Angela Mastronuzzi
Read the article here.
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