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.

Rhabdoid tumor predisposition syndrome. From clinical suspicion to general management / Del Baldo, G.; Carta, R.; Alessi, I.; Merli, P.; Agolini, E.; Rinelli, M.; Boccuto, L.; Milano, G. M.; Serra, A.; Carai, A.; Locatelli, F.; Mastronuzzi, A.. - In: FRONTIERS IN ONCOLOGY. - ISSN 2234-943X. - 11:(2021). [10.3389/fonc.2021.586288]

Rhabdoid tumor predisposition syndrome. From clinical suspicion to general management

Del Baldo G.;Carta R.;Alessi I.;Mastronuzzi A.
2021

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 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.
2021
atypical teratoid/rhabdoid tumors; cancer predisposition syndromes; cancer risk; cancer surveillance; genetic test; rhabdoid tumors
01 Pubblicazione su rivista::01a Articolo in rivista
Rhabdoid tumor predisposition syndrome. From clinical suspicion to general management / Del Baldo, G.; Carta, R.; Alessi, I.; Merli, P.; Agolini, E.; Rinelli, M.; Boccuto, L.; Milano, G. M.; Serra, A.; Carai, A.; Locatelli, F.; Mastronuzzi, A.. - In: FRONTIERS IN ONCOLOGY. - ISSN 2234-943X. - 11:(2021). [10.3389/fonc.2021.586288]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1607944
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