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Rhabdoid tumor predisposition syndrome 2(RTPS2)

MedGen UID:
413749
Concept ID:
C2750074
Disease or Syndrome
Synonym: RTPS2
 
Gene (location): SMARCA4 (19p13.2)
 
Monarch Initiative: MONDO:0013224
OMIM®: 613325

Definition

Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014). See also RTPS1 (609322), which is caused by mutation in the SMARCB1 gene (601607) on chromosome 22q11. [from OMIM]

Additional description

From MedlinePlus Genetics
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).

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.

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 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.

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).  https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome

Clinical features

From HPO
Rhabdoid tumor of the kidney
MedGen UID:
208930
Concept ID:
C0854917
Neoplastic Process
A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.
Atypical teratoid rhabdoid tumor
MedGen UID:
226853
Concept ID:
C1266184
Neoplastic Process
An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.

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
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

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
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
Witkowski L, Lalonde E, Zhang J, Albrecht S, Hamel N, Cavallone L, May ST, Nicholson JC, Coleman N, Murray MJ, Tauber PF, Huntsman DG, Schönberger S, Yandell D, Hasselblatt M, Tischkowitz MD, Majewski J, Foulkes WD
J Pathol 2013 Sep;231(1):35-43. doi: 10.1002/path.4225. PMID: 23775540

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
Witkowski L, Lalonde E, Zhang J, Albrecht S, Hamel N, Cavallone L, May ST, Nicholson JC, Coleman N, Murray MJ, Tauber PF, Huntsman DG, Schönberger S, Yandell D, Hasselblatt M, Tischkowitz MD, Majewski J, Foulkes WD
J Pathol 2013 Sep;231(1):35-43. doi: 10.1002/path.4225. PMID: 23775540

Clinical prediction guides

Witkowski L, Lalonde E, Zhang J, Albrecht S, Hamel N, Cavallone L, May ST, Nicholson JC, Coleman N, Murray MJ, Tauber PF, Huntsman DG, Schönberger S, Yandell D, Hasselblatt M, Tischkowitz MD, Majewski J, Foulkes WD
J Pathol 2013 Sep;231(1):35-43. doi: 10.1002/path.4225. PMID: 23775540

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