Percorsi clinici
Lo spettro delle manifestazioni legate alla mutazione del gene PTEN
Clinical presentation of PTEN Mutations
Vanna Graziani1, Sara Dal Bo1, Alberto Sensi2, Cesare Rossi3, Lucia Vignutelli4, Letizia Berretti5, Federico Marchetti1
1UOC di Pediatria e Neonatologia, Ospedale di Ravenna, AUSL della Romagna
2UO di Genetica Medica, Laboratorio Unico della Romagna, Pievesestina, Cesena, AUSL della Romagna
3UO di Genetica Medica, Azienda Ospedaliero-Universitaria di Bologna
4Pediatra di famiglia, Massa Lombarda (Ravenna)
5UOC di Radiologia, Ospedale di Ravenna, AUSL della Romagna
Maggio 2017 - pagg. 303 -308
Abstract
Mutations of tumour suppressor gene PTEN (Phosphatase and Tensin homologue deleted
on chromosome 10) predispose to phenotypically diverse disorders, with several overlapping
clinical features, collectively classified as PTEN hamartoma tumour syndrome
(PHTS). The paper presents the case of a 6-year-old girl with macrocephaly and multiple
lipomatous lesions, diagnosed as a de novo PTEN mutation. PTEN testing should be
considered in any child presenting with macrocephaly and dermatologic features
and/or hamartomatous overgrowth and/or mental delay. PHTS leads to an increased
risk of developing breast, skin, colorectal, endometrial and thyroid malignancies, therefore
cancer surveillance is the cornerstone of management. Recently, rapamycin treatment
has been proposed.
Classificazione MeSH
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Corrispondenza: vanna.graziani@gmail.com