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Rhabdoid tumor predisposition syndrome 1(RTPS1)

MedGen UID:
322892
Concept ID:
C1836327
Disease or Syndrome
Synonyms: Familial Posterior Fossa Brain Tumor of Infancy; RTPS1
 
Gene (location): SMARCB1 (22q11.23)
 
Monarch Initiative: MONDO:0012252
OMIM®: 609322

Definition

The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (Sevenet et al., 1999). Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT). Genetic Heterogeneity of Rhabdoid Tumor Predisposition Syndrome See also RTPS2 (613325), caused by germline mutation in the SMARCA4 gene (603254) on chromosome 19p13. [from OMIM]

Additional description

From MedlinePlus Genetics
Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a high risk of developing cancerous (malignant) growths called rhabdoid tumors. These highly aggressive tumors 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 tumors 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 tumors occur at an average age of 4 to 7 months, and can even occur before birth. Affected individuals may have multifocal synchronous tumors, which means that multiple tumors that develop independently (primary tumors) occur at the same time. The rhabdoid tumors 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 tumors (MRTs) develop in the cerebellum, which is the part of the brain that coordinates movement. Rhabdoid tumors in the brain and spinal cord (central nervous system) are called atypical teratoid/rhabdoid tumors (AT/RTs).

Rhabdoid tumors also occur outside the central nervous system. These tumors include rhabdoid tumors of the kidneys (RTKs) and tumors that develop in other organs and tissues of the body (called extrarenal malignant rhabdoid tumors or eMRTs). The type of rhabdoid tumor can vary among individuals with RTPS, even within the same family.

Tumors other than rhabdoid tumors can also occur in people with RTPS. Some affected children develop noncancerous (benign) tumors 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).  https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome

Clinical features

From HPO
Medulloblastoma
MedGen UID:
7517
Concept ID:
C0025149
Neoplastic Process
Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features.
Choroid plexus carcinoma
MedGen UID:
96557
Concept ID:
C0431109
Neoplastic Process
Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Berger M, von Schweinitz D
Curr Pediatr Rev 2015;11(3):188-94. doi: 10.2174/1573396311666150714105403. PMID: 26168945

Recent clinical studies

Etiology

Blackburn PR, McGee RB, Mostafavi R, Carroll AJ, Mikhail FM, Armstrong GT, Furtado LV, Chiang J, Wheeler DA, Carey SS, Nichols KE, Upadhyaya SA
Genes Chromosomes Cancer 2024 Jan;63(1):e23195. Epub 2023 Aug 7 doi: 10.1002/gcc.23195. PMID: 37548271
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
Abro B, Kaushal M, Chen L, Wu R, Dehner LP, Pfeifer JD, He M
Pathol Res Pract 2019 Jun;215(6):152395. Epub 2019 Apr 18 doi: 10.1016/j.prp.2019.03.023. PMID: 31047727
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
Machado I, Mayordomo-Aranda E, Scotlandi K, Picci P, Llombart-Bosch A
Pathol Res Pract 2014 Aug;210(8):508-13. Epub 2014 Apr 18 doi: 10.1016/j.prp.2014.04.005. PMID: 24906228

Diagnosis

Blackburn PR, McGee RB, Mostafavi R, Carroll AJ, Mikhail FM, Armstrong GT, Furtado LV, Chiang J, Wheeler DA, Carey SS, Nichols KE, Upadhyaya SA
Genes Chromosomes Cancer 2024 Jan;63(1):e23195. Epub 2023 Aug 7 doi: 10.1002/gcc.23195. PMID: 37548271
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
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
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
Fuller CE
Semin Diagn Pathol 2016 Nov;33(6):427-440. Epub 2016 Aug 31 doi: 10.1053/j.semdp.2016.08.003. PMID: 27745735

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

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
Berger M, von Schweinitz D
Curr Pediatr Rev 2015;11(3):188-94. doi: 10.2174/1573396311666150714105403. PMID: 26168945

Clinical prediction guides

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
Abro B, Kaushal M, Chen L, Wu R, Dehner LP, Pfeifer JD, He M
Pathol Res Pract 2019 Jun;215(6):152395. Epub 2019 Apr 18 doi: 10.1016/j.prp.2019.03.023. PMID: 31047727
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
Kuwahara Y, Wei D, Durand J, Weissman BE
Mol Cancer Res 2013 Mar;11(3):251-60. Epub 2013 Jan 30 doi: 10.1158/1541-7786.MCR-12-0390. PMID: 23364536Free PMC Article

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