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Last update 08 May 2025

Rhabdoid Tumor Predisposition Syndrome 1

Last update 08 May 2025

Basic Info

Synonyms

BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL, Brain Tumor, Posterior Fossa, of Infancy, Familial, RHABDOID TUMOR PREDISPOSITION SYNDROME 1

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Introduction

Rhabdoid tumor predisposition syndrome caused by mutation(s) in the SMARCB1 gene, encoding SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1.

Clinical Trials associated with Rhabdoid Tumor Predisposition Syndrome 1

DRKS00035973

/ RecruitingNot Applicable

Studies on the role of interdisciplinary boards in clinical genetic care - GenBoard

Start Date05 Feb 2025

Sponsor / Collaborator

Universitatsklinikum Augsburg

NCT03050268

/ RecruitingNot ApplicableIIT

Familial Investigations of Childhood Cancer Predisposition

NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown in the Eligibility Section, you may enroll regardless of the results of your clinical genetic testing.
While it is well recognized that hereditary factors contribute to the development of a subset of human cancers, the cause for many cancers remains unknown. The application of next generation sequencing (NGS) technologies has expanded knowledge in the field of hereditary cancer predisposition. Currently, more than 100 cancer predisposing genes have been identified, and it is now estimated that approximately 10% of all cancer patients have an underlying genetic predisposition.
The purpose of this protocol is to identify novel cancer predisposing genes and/or genetic variants. For this study, the investigators will establish a Data Registry linked to a Repository of biological samples. Health information, blood samples and occasionally leftover tumor samples will be collected from individuals with familial cancer. The investigators will use NGS approaches to find changes in genes that may be important in the development of familial cancer. The information gained from this study may provide new and better ways to diagnose and care for people with hereditary cancer.
PRIMARY OBJECTIVE:
* Establish a registry of families with clustering of cancer in which clinical data are linked to a repository of cryopreserved blood cells, germline DNA, and tumor tissues from the proband and other family members.
SECONDARY OBJECTIVE:
* Identify novel cancer predisposing genes and/or genetic variants in families with clustering of cancer for which the underlying genetic basis is unknown.

Start Date06 Apr 2017

Sponsor / Collaborator

St. Jude Children's Research Hospital, Inc.

100 Clinical Results associated with Rhabdoid Tumor Predisposition Syndrome 1

100 Translational Medicine associated with Rhabdoid Tumor Predisposition Syndrome 1

0 Patents (Medical) associated with Rhabdoid Tumor Predisposition Syndrome 1

Literatures (Medical) associated with Rhabdoid Tumor Predisposition Syndrome 1

01 May 2025·Gene

Crucial role of preserving umbilical cord stumps for genetic decoding of a family with rhabdoid tumor predisposition syndrome

Article

Author: Kaviya, Mohandass ; Pradeepkumar, Murugasamy ; Kandhakumar, Vignesh ; Saravanan, Muniasamy ; Gomathi, Mohan

BACKGROUNDThe Rhabdoid tumor is an aggressive tumor that is commonly found in infants and children with a prevalence of about, 0.6 in every 1 million children. The SMARCB1 or SMARCA4 gene mutations can result in Rhabdoid tumor predisposition syndrome 1 and 2 respectively. In Indian customs, dried umbilical cord stumps that had fallen off were stored to treat various illnesses, including infertility.AIM AND OBJECTIVEThis study aims to unravel the mystery behind recurrent childhood loss in a family using umbilical cord stumps of the deceased children.METHODOLOGYWe obtained the dried umbilical cord stumps of the deceased children, which were stored by their parents, as there was no genetic diagnosis performed on the children who passed away unexpectedly. Following DNA extraction from the parents' and the umbilical cord stumps, whole exome sequencing analysis (WES) was performed.RESULTSThe WGS report showed a pathogenic germline mutation, Chr22:g.23791780; c.118C > T; (p.Arg40Ter) in the SMARCB1 gene causing Rhabdoid tumor predisposition syndrome 1, which was present in the children who passed away earlier. The mother was discovered to be a silent carrier with heterozygous mutant alleles, according to carrier screening and segregation analysis. Genetic counseling was given to the parents in light of the 50 % recurring risk in the foetus, and the continued pregnancy was determined to be normal. The diagnostic benefit of using dried umbilical cord stumps which are customarily retained by Indian parents who have had early childhood losses was demonstrated by this investigation.

01 Mar 2025·The Journal of Pathology

SMARCB1‐deficient malignant melanocytic uveal tumours: a new neural crest‐derived tumour entity with SMARCB1‐related germline predisposition

Article

Author: Cassoux, Nathalie ; Vincent‐Salomon, Anne ; Pefkianaki, Maria ; Sohier, Pierre ; Fréneaux, Paul ; Rodrigues, Manuel ; Lumbroso‐Le Rouic, Livia ; Caly, Martial ; Bouchoucha, Yassine ; Masliah‐Planchon, Julien ; Andrianteranagna, Mamy ; Stern, Marc‐Henri ; Matet, Alexandre ; Filser, Mathilde ; Cyrta, Joanna ; Cardoen, Liesbeth ; Bourdeaut, Franck ; Moschovi, Maria ; Stefanaki, Kalliopi ; Gauthier‐Villars, Marion ; Brillet, Riwan ; Goncalves, Andreia ; Hoare, Owen

AbstractRhabdoid tumours (RT) are an aggressive malignancy affecting <2‐year‐old infants, characterised by biallelic loss‐of‐function alterations in SWI/SNF‐related BAF chromatin remodelling complex subunit B1 (SMARCB1) in nearly all cases. Germline SMARCB1 alterations are found in ~30% of patients and define the RT Predisposition Syndrome type 1 (RTPS1). Uveal melanoma (UVM), the most common primary intraocular cancer in adults, does not harbour SMARCB1 alterations. We report two cases of a previously undescribed intraocular malignancy that shared some features with UVM and RT, but was also distinct from these entities. Both female patients, aged 23 and 14 years, underwent enucleation, and the tumours were subjected to comprehensive genomic, DNA methylation, and transcriptomic profiling. Pathological examination showed large, amelanotic intraocular tumours with epithelioid features, expressing melanocytic markers [S100P, SOX10, Melan‐A, PMEL (HMB45), TYR] as seen using immunohistochemistry (IHC), but with little or no melanin production. Both tumours harboured biallelic loss‐of‐function SMARCB1 alterations, associated with loss of SMARCB1 (BAF47/INI1) expression on IHC. Their genomic profiles were atypical both for UVM and for RT, and no pathogenic variants were found in other genes tested, including those recurrently altered in UVM. In both patients, a germline SMARCB1 variant was found. However, there was no relevant family history of cancer. Transcriptome and methylome profiling suggested that these tumours were distinct from RT, UVM, and skin melanomas. RNAseq confirmed expression of early and late genes related to melanocytic differentiation. The first patient died of metastatic disease 16 months after diagnosis, the second was disease‐free 10 months after completion of treatment. In summary, we report two cases of a previously undescribed, aggressive SMARCB1‐deficient intraocular malignancy with melanocytic differentiation, which occurs in young patients, is distinct from UVM and RT, and expands the RTPS1 spectrum. © 2025 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.

04 Nov 2024·Neuro-Oncology

Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors

Article

Author: Brugieres, Laurence ; Masliah-Planchon, Julien ; Simaga, Fatoumata ; Lejeune, Sophie ; Bonadona, Valérie ; Maureille, Aurélien ; Gauthier-Villars, Marion ; Julia, Sophie ; Guerrini-Rousseau, Léa ; Beccaria, Kévin ; Mansuy, Ludovic ; Ingster, Olivier ; Denizeau, Philippe ; Filser, Mathilde ; Brahimi, Afane ; Bourdeaut, Franck ; Andre, Nicolas ; Bourneix, Christine ; Tauziede-Espariat, Arnault ; Coupier, Isabelle ; Thomson, Grégory ; Delattre, Olivier ; Zattara-Cannoni, Hélène ; Entz-Werle, Natacha ; Faure-Conter, Cécile

AbstractBackgroundRhabdoid tumors (RT) are aggressive, rare tumors predominantly affecting young children, characterized by biallelic SMARCB1 gene inactivation. While most SMARCB1 alterations are acquired de novo, a third of cases exhibit germline alterations, defining Rhabdoid Tumors Predisposition Syndrome. With the increased sensitivity of next-generation sequencing (NGS), mosaicisms in genes linked to genetic diseases are more detectable. This study focuses on exploring SMARCB1 germline alterations, notably mosaicism in blood samples of children with RT and in parents, using a custom NGS panel.MethodsA cohort of 280 children and 140 parents with germline analysis was studied. Germline DNA from 111 children with RT and 32 parents were reanalyzed with a custom NGS panel with 1500X average depth targeting the SMARCB1 gene to identify intragenic variants not detected with conventional low-sensitivity methods. Follow-up data was obtained for 77 patients.ResultsNine previously undetected mosaicism cases were identified, totaling 17/280 patients with a mosaic variant (6.1%) in the cohort, with variant allele frequencies between 0.9% and 33%, thus highlighting the prior underestimation of its prevalence. Follow-up data showed that 4 out of 7 survivors with mosaic variants developed distinct novel tumors, 2 sharing SMARCB1 alterations with the initial tumor, emphasizing the potential clinical impact of SMARCB1 mosaicism.ConclusionsThe hitherto underestimated rate of SMARCB1 mosaicism in RT underscores the need for optimized genetic counseling and oncological monitoring. The findings have significant medical implications, considering the dire prognosis of RT.

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