Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

Overview

Journal Front Oncol

Specialty Oncology

Date 2021 Mar 11

PMID 33692948

Citations 12

Authors

Giada Del Baldo

Roberto Carta

Iside Alessi

Pietro Merli

Emanuele Agolini

Martina Rinelli

Luigi Boccuto

Giuseppe Maria Milano

Annalisa Serra

Andrea Carai

Franco Locatelli

Angela Mastronuzzi

Affiliations

Soon will be listed here.

Abstract

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 or, more rarely, , 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 gene, while RTPS2 has variants in . Interestingly, germline variants of and 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.

Citing Articles

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Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance.

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Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.

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Rhabdoid tumor predisposition syndrome: A historical review of treatments and outcomes for associated pediatric malignancies.

Andres S, Huang K, Shatara M, Abdelbaki M, Ranalli M, Finlay J Pediatr Blood Cancer. 2024; 71(6):e30979.

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