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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.
Autosomal dominant inheritance (Orphanet)
 
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]

Professional guidelines

PubMed

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.
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
Current Management of Fetal and Neonatal Renal Tumors.
Berger M, von Schweinitz D
Curr Pediatr Rev 2015;11(3):188-94. doi: 10.2174/1573396311666150714105403. PMID: 26168945
Current Management of Neonatal Soft-tissue Sarcomas and Benign Tumors with Local Aggressiveness.
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

Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.
Hansford JR, Das A, McGee RB, Nakano Y, Brzezinski J, Scollon SR, Rednam SP, Schienda J, Michaeli O, Kim SY, Greer MC, Weksberg R, Stewart DR, Foulkes WD, Tabori U, Pajtler KW, Pfister SM, Brodeur GM, Kamihara J
Clin Cancer Res 2024 Jun 3;30(11):2342-2350. doi: 10.1158/1078-0432.CCR-23-4033. PMID: 38573059Free PMC Article
Nervous system (NS) Tumors in Cancer Predisposition Syndromes.
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
Rare Hereditary Gynecological Cancer Syndromes.
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
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.
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
Rhabdoid tumor predisposition syndrome.
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

Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.
Hansford JR, Das A, McGee RB, Nakano Y, Brzezinski J, Scollon SR, Rednam SP, Schienda J, Michaeli O, Kim SY, Greer MC, Weksberg R, Stewart DR, Foulkes WD, Tabori U, Pajtler KW, Pfister SM, Brodeur GM, Kamihara J
Clin Cancer Res 2024 Jun 3;30(11):2342-2350. doi: 10.1158/1078-0432.CCR-23-4033. PMID: 38573059Free PMC Article
Rare Hereditary Gynecological Cancer Syndromes.
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
Hereditary SWI/SNF complex deficiency syndromes.
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
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.
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
Rhabdoid tumor predisposition syndrome.
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

A Phase I Study of the CDK4/6 Inhibitor Ribociclib (LEE011) in Pediatric Patients with Malignant Rhabdoid Tumors, Neuroblastoma, and Other Solid Tumors.
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
Synchronous congenital malignant rhabdoid tumor of the orbit and atypical teratoid/rhabdoid tumor--feasibility and efficacy of multimodal therapy in a long-term survivor.
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

Nervous system (NS) Tumors in Cancer Predisposition Syndromes.
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
Recent updates in thoracic SMARCA4-deficient undifferentiated tumor.
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
Hereditary SWI/SNF complex deficiency syndromes.
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
SMARCB1-deficient Tumors of Childhood: A Practical Guide.
Pawel BR
Pediatr Dev Pathol 2018 Jan-Feb;21(1):6-28. Epub 2017 Dec 27 doi: 10.1177/1093526617749671. PMID: 29280680
Current Management of Fetal and Neonatal Renal Tumors.
Berger M, von Schweinitz D
Curr Pediatr Rev 2015;11(3):188-94. doi: 10.2174/1573396311666150714105403. PMID: 26168945

Clinical prediction guides

Nervous system (NS) Tumors in Cancer Predisposition Syndromes.
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
Recent updates in thoracic SMARCA4-deficient undifferentiated tumor.
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
Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor.
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
Hereditary SWI/SNF complex deficiency syndromes.
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
Rhabdoid tumor predisposition syndrome.
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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