Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

Frontiers in Oncology

Franco Locatelli¹  Andrea Carai²  Angela Mastronuzzi³  Pietro Merli³  Giuseppe Maria Milano³  Iside Alessi³  Giada Del Baldo³  Roberto Carta³  Annalisa Serra³  Emanuele Agolini⁵  Martina Rinelli⁵  Luigi Boccuto⁶ 

[1] Department of Maternal, Infantile, and Urological Sciences, University of Rome La Sapienza, Rome, Italy;Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, IRCCS Bambino Gesù Children’s Hospital, Rome, Italy;Department of Paediatric Haematology/Oncology, IRCCS Bambino Gesù Children’s Hospital, Rome, Italy;JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC, United States;Laboratory of Medical Genetics, IRCCS Bambino Gesù Children’s Hospital, Rome, Italy;School of Nursing, College of Behavioral, Social and Health Science, Clemson University, Clemson, SC, United States;

关键词: rhabdoid tumors;    atypical teratoid/rhabdoid tumors;    cancer surveillance;    genetic test;    cancer risk;    cancer predisposition syndromes;   

DOI  :  10.3389/fonc.2021.586288

来源: DOAJ

【 摘 要 】

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 SMARCB1 or, more rarely, SMARCA4, 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 SMARCB1 gene, while RTPS2 has variants in SMARCA4. Interestingly, germline variants of SMARCB1 and SMARCA4 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.

【 授权许可】

Unknown