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Rhabdoid tumor predisposition syndrome

MedGen UID:
457750
Concept ID:
C2985524
Disease or Syndrome
Synonym: Familial rhabdoid tumor
SNOMED CT: Rhabdoid tumor predisposition syndrome (772130002); Familial rhabdoid tumor (772130002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: SMARCB1, SMARCA4
 
Monarch Initiative: MONDO:0016473
OMIM® Phenotypic series: PS609322
Orphanet: ORPHA231108

Definition

High risk of developing malignant rhabdoid tumours that are highly aggressive and rare in the general population. The tumours usually occur in the first year of life, however for those with this syndrome they occur at an average age of 4 to 7 months or even before birth. The tumours spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood. More than half of the tumours develop in the cerebellum, but can also occur outside the central nervous system. Caused by mutations in the SMARCB1 gene. These cases are sometimes known as RTPS1. A small number of cases (called RTPS2) are caused by mutations in the SMARCA4 gene. The majority of cases are caused by SMARCB1 gene mutations which may occur in people with no history of the disorder in their family. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Frühwald MC, Nemes K, Boztug H, Cornips MCA, Evans DG, Farah R, Glentis S, Jorgensen M, Katsibardi K, Hirsch S, Jahnukainen K, Kventsel I, Kerl K, Kratz CP, Pajtler KW, Kordes U, Ridola V, Stutz E, Bourdeaut F
Fam Cancer 2021 Oct;20(4):305-316. Epub 2021 Feb 3 doi: 10.1007/s10689-021-00229-1. PMID: 33532948Free PMC Article
Berger M, von Schweinitz D
Curr Pediatr Rev 2015;11(3):188-94. doi: 10.2174/1573396311666150714105403. PMID: 26168945
Fernandez-Pineda I, Neel MD, Rao BN
Curr Pediatr Rev 2015;11(3):216-25. doi: 10.2174/1573396311666150714110840. PMID: 26168942

Recent clinical studies

Etiology

Watanabe T, Soeda S, Endo Y, Okabe C, Sato T, Kamo N, Ueda M, Kojima M, Furukawa S, Nishigori H, Takahashi T, Fujimori K
Int J Mol Sci 2022 Jan 29;23(3) doi: 10.3390/ijms23031563. PMID: 35163487Free PMC Article
Dundr P, Cibula D, Foretová L, Macek M Jr, Kopečková K, Petruželka L, Němejcová K, Bártů M, Hojný J, Hájková N, Jakša R, Janega P, Stružinská I
Cesk Patol 2021 Summer;57(2):96-104. PMID: 34275319
Mitchell SG, Pencheva B, Porter CC
Curr Oncol Rep 2019 Aug 15;21(10):85. doi: 10.1007/s11912-019-0836-9. PMID: 31414239
Foulkes WD, Kamihara J, Evans DGR, Brugières L, Bourdeaut F, Molenaar JJ, Walsh MF, Brodeur GM, Diller L
Clin Cancer Res 2017 Jun 15;23(12):e62-e67. doi: 10.1158/1078-0432.CCR-17-0595. PMID: 28620006Free PMC Article
Sredni ST, Tomita T
Pediatr Dev Pathol 2015 Jan-Feb;18(1):49-58. Epub 2014 Dec 10 doi: 10.2350/14-07-1531-MISC.1. PMID: 25494491

Diagnosis

Watanabe T, Soeda S, Endo Y, Okabe C, Sato T, Kamo N, Ueda M, Kojima M, Furukawa S, Nishigori H, Takahashi T, Fujimori K
Int J Mol Sci 2022 Jan 29;23(3) doi: 10.3390/ijms23031563. PMID: 35163487Free PMC Article
Mitchell SG, Pencheva B, Porter CC
Curr Oncol Rep 2019 Aug 15;21(10):85. doi: 10.1007/s11912-019-0836-9. PMID: 31414239
Agaimy A, Foulkes WD
Semin Diagn Pathol 2018 May;35(3):193-198. Epub 2018 Feb 1 doi: 10.1053/j.semdp.2018.01.002. PMID: 29397238
Foulkes WD, Kamihara J, Evans DGR, Brugières L, Bourdeaut F, Molenaar JJ, Walsh MF, Brodeur GM, Diller L
Clin Cancer Res 2017 Jun 15;23(12):e62-e67. doi: 10.1158/1078-0432.CCR-17-0595. PMID: 28620006Free PMC Article
Sredni ST, Tomita T
Pediatr Dev Pathol 2015 Jan-Feb;18(1):49-58. Epub 2014 Dec 10 doi: 10.2350/14-07-1531-MISC.1. PMID: 25494491

Therapy

Geoerger B, Bourdeaut F, DuBois SG, Fischer M, Geller JI, Gottardo NG, Marabelle A, Pearson ADJ, Modak S, Cash T, Robinson GW, Motta M, Matano A, Bhansali SG, Dobson JR, Parasuraman S, Chi SN
Clin Cancer Res 2017 May 15;23(10):2433-2441. Epub 2017 Apr 21 doi: 10.1158/1078-0432.CCR-16-2898. PMID: 28432176
Seeringer A, Reinhard H, Hasselblatt M, Schneppenheim R, Siebert R, Bartelheim K, Leuschner I, Frühwald MC
Cancer Genet 2014 Sep;207(9):429-33. Epub 2014 Jul 3 doi: 10.1016/j.cancergen.2014.06.028. PMID: 25262118

Prognosis

Patil P, Pencheva BB, Patil VM, Fangusaro J
Neurotherapeutics 2022 Oct;19(6):1752-1771. Epub 2022 Sep 2 doi: 10.1007/s13311-022-01277-w. PMID: 36056180Free PMC Article
Nambirajan A, Jain D
Semin Diagn Pathol 2021 Sep;38(5):83-89. Epub 2021 Jun 4 doi: 10.1053/j.semdp.2021.06.001. PMID: 34147303
Shanbhogue KP, Prasad AS, Ucisik-Keser FE, Katabathina VS, Morani AC
Clin Radiol 2021 Apr;76(4):313.e15-313.e26. Epub 2021 Jan 19 doi: 10.1016/j.crad.2020.11.116. PMID: 33353730
Agaimy A, Foulkes WD
Semin Diagn Pathol 2018 May;35(3):193-198. Epub 2018 Feb 1 doi: 10.1053/j.semdp.2018.01.002. PMID: 29397238
Pawel BR
Pediatr Dev Pathol 2018 Jan-Feb;21(1):6-28. Epub 2017 Dec 27 doi: 10.1177/1093526617749671. PMID: 29280680

Clinical prediction guides

Patil P, Pencheva BB, Patil VM, Fangusaro J
Neurotherapeutics 2022 Oct;19(6):1752-1771. Epub 2022 Sep 2 doi: 10.1007/s13311-022-01277-w. PMID: 36056180Free PMC Article
Nambirajan A, Jain D
Semin Diagn Pathol 2021 Sep;38(5):83-89. Epub 2021 Jun 4 doi: 10.1053/j.semdp.2021.06.001. PMID: 34147303
Fukushima H, Yamasaki K, Sakaida M, Tsujio N, Okuno T, Ishii N, Okada K, Fujisaki H, Matsusaka Y, Sakamoto H, Yoneda A, Hara J, Inoue T
Pathol Int 2021 Feb;71(2):155-160. Epub 2020 Dec 30 doi: 10.1111/pin.13056. PMID: 33378586
Agaimy A, Foulkes WD
Semin Diagn Pathol 2018 May;35(3):193-198. Epub 2018 Feb 1 doi: 10.1053/j.semdp.2018.01.002. PMID: 29397238
Sredni ST, Tomita T
Pediatr Dev Pathol 2015 Jan-Feb;18(1):49-58. Epub 2014 Dec 10 doi: 10.2350/14-07-1531-MISC.1. PMID: 25494491

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