Rhabdoid tumour predisposition syndrome
Dernière mise à jour 18 Aug 2020
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Rhabdoid tumour predisposition syndrome (RTPS) is characterised by a high risk of developing cancerous (malignant) growths called rhabdoid tumours. These highly aggressive tumours are called rhabdoid because their cells resemble rhabdomyoblasts, which are cells that are normally found in embryos before birth and develop into muscles used for movement (skeletal muscles).
Description
Rhabdoid tumour predisposition syndrome (RTPS) is characterised by a high risk of developing cancerous (malignant) growths called rhabdoid tumours. These highly aggressive tumours are called rhabdoid because their cells resemble rhabdomyoblasts, which are cells that are normally found in embryos before birth and develop into muscles used for movement (skeletal muscles).
Rhabdoid tumours are rare in the general population. They usually occur in the first year of life, and are much less likely to appear after age 4. In people with RTPS, the tumours occur at an average age of 4 to 7 months, and can even occur before birth. Affected individuals may have multifocal synchronous tumours, which means that multiple tumours that develop independently (primary tumours) occur at the same time. The rhabdoid tumours that occur in RTPS usually grow and spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood.
More than half of all malignant rhabdoid tumours (MRTs) develop in the cerebellum, which is the part of the brain that coordinates movement. Rhabdoid tumours in the brain and spinal cord (central nervous system) are called atypical teratoid/rhabdoid tumours (AT/RTs).
Rhabdoid tumours also occur outside the central nervous system. These tumours include rhabdoid tumours of the kidneys (RTKs) and tumours that develop in other organs and tissues of the body (called extrarenal malignant rhabdoid tumours or eMRTs). The type of rhabdoid tumour can vary among individuals with RTPS, even within the same family.
Tumours other than rhabdoid tumours can also occur in people with RTPS. Some affected children develop noncancerous (benign) tumours called schwannomas, which grow on nerve cells. Women with RTPS are at increased risk of developing a rare type of ovarian cancer called small cell cancer of the ovary hypercalcemic type (SCCOHT).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Familial posterior fossa brain tumour of infancy
Familial posterior fossa brain tumour syndrome
Familial rhabdoid tumour
Hereditary SWI/SNF deficiency syndrome
Rhabdoid predisposition syndrome
RTPS
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Lectures complémentaires et références
- Rhabdoid tumour predisposition syndrome; MedlinePlus, National Library of Medicine.
- Agaimy A, Foulkes WD. Hereditary SWI/SNF complex deficiency syndromes. Semin Diagn Pathol. 2018 May;35(3):193-198. doi: 10.1053/j.semdp.2018.01.002. Epub 2018 Feb 1.
- Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA. Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer. 2011 Jan;56(1):7-15. doi: 10.1002/pbc.22831.
- Gigante L, Paganini I, Frontali M, Ciabattoni S, Sangiuolo FC, Papi L. Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. Fam Cancer. 2016 Jan;15(1):123-6. doi: 10.1007/s10689-015-9836-6.
- Hulsebos TJ, Kenter S, Verhagen WI, Baas F, Flucke U, Wesseling P. Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors. Acta Neuropathol. 2014 Sep;128(3):439-48. doi: 10.1007/s00401-014-1281-3. Epub 2014 Apr 17.
- Kim KH, Roberts CW. Mechanisms by which SMARCB1 loss drives rhabdoid tumor growth. Cancer Genet. 2014 Sep;207(9):365-72. doi: 10.1016/j.cancergen.2014.04.004. Epub 2014 Apr 13.
- Kordes U, Bartelheim K, Modena P, Massimino M, Biassoni V, Reinhard H, Hasselblatt M, Schneppenheim R, Fruhwald MC. Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). Pediatr Blood Cancer. 2014 May;61(5):919-21. doi: 10.1002/pbc.24793. Epub 2013 Oct 3.
- Medina PP, Sanchez-Cespedes M. Involvement of the chromatin-remodeling factor BRG1/SMARCA4 in human cancer. Epigenetics. 2008 Mar-Apr;3(2):64-8. doi: 10.4161/epi.3.2.6153. Epub 2008 Apr 17.
- Schneppenheim R, Fruhwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I, Siebert R. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet. 2010 Feb 12;86(2):279-84. doi: 10.1016/j.ajhg.2010.01.013. Epub 2010 Feb 4.
- Sredni ST, Tomita T. Rhabdoid tumor predisposition syndrome. Pediatr Dev Pathol. 2015 Jan-Feb;18(1):49-58. doi: 10.2350/14-07-1531-MISC.1. Epub 2014 Dec 10.
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