AUTHOR=Del Baldo Giada , Carta Roberto , Alessi Iside , Merli Pietro , Agolini Emanuele , Rinelli Martina , Boccuto Luigi , Milano Giuseppe Maria , Serra Annalisa , Carai Andrea , Locatelli Franco , Mastronuzzi Angela 

TITLE=Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

JOURNAL=Frontiers in Oncology

VOLUME=11

YEAR=2021

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2021.586288

DOI=10.3389/fonc.2021.586288

ISSN=2234-943X

ABSTRACT=<p>Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues. Rhabdoid tumors share germline and somatic mutations in <italic>SMARCB1</italic> or, more rarely, <italic>SMARCA4</italic>, members of the SWI/SNF chromatin-remodeling complex. Rhabdoid tumor predisposition syndrome (RTPS) is a condition characterized by a high risk of developing rhabdoid tumors, among other features. RTPS1 is characterized by pathogenic variants in the <italic>SMARCB1</italic> gene, while RTPS2 has variants in <italic>SMARCA4</italic>. Interestingly, germline variants of <italic>SMARCB1</italic> and <italic>SMARCA4</italic> have been identified also in patients with Coffin-Siris syndrome. Children with RTPS typically present with tumors before 1 year of age and in a high percentage of cases develop synchronous or multifocal tumors with aggressive clinical features. The diagnosis of RTPS should be considered in patients with rhabdoid tumors, especially if they have multiple primary tumors and/or in individuals with a family history. Because germline mutations result in an increased risk of carriers developing rhabdoid tumors, genetic counseling, and surveillance for all family members with this condition is recommended.</p>