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Atypical teratoid rhabdoid tumor

MedGen UID:
226853
Concept ID:
C1266184
Neoplastic Process
Synonym: Atypical teratoid/rhabdoid tumor
SNOMED CT: Atypical teratoid/rhabdoid tumor (128792003)
 
HPO: HP:0034401
Monarch Initiative: MONDO:0020560
OMIM®: 609322
Orphanet: ORPHA99966

Definition

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. [from HPO]

Conditions with this feature

Rhabdoid tumor predisposition syndrome 2
MedGen UID:
413749
Concept ID:
C2750074
Disease or Syndrome
Rhabdoid tumor predisposition syndrome-2 (RTPS2) 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.

Professional guidelines

PubMed

Timmermann B, Alapetite C, Dieckmann K, Kortmann RD, Lassen-Ramshad Y, Maduro JH, Ramos Albiac M, Ricardi U, Weber DC
Radiother Oncol 2024 Jul;196:110227. Epub 2024 Mar 14 doi: 10.1016/j.radonc.2024.110227. PMID: 38492671
Gupta NK, Godbole N, Sanmugananthan P, Gunda S, Kasula V, Baggett M, Gajjar A, Kouam RW, D'Amico R, Rodgers S
World Neurosurg 2024 Jan;181:e504-e515. Epub 2023 Oct 21 doi: 10.1016/j.wneu.2023.10.089. PMID: 37871692
Gholamin S, Mitra SS, Feroze AH, Liu J, Kahn SA, Zhang M, Esparza R, Richard C, Ramaswamy V, Remke M, Volkmer AK, Willingham S, Ponnuswami A, McCarty A, Lovelace P, Storm TA, Schubert S, Hutter G, Narayanan C, Chu P, Raabe EH, Harsh G 4th, Taylor MD, Monje M, Cho YJ, Majeti R, Volkmer JP, Fisher PG, Grant G, Steinberg GK, Vogel H, Edwards M, Weissman IL, Cheshier SH
Sci Transl Med 2017 Mar 15;9(381) doi: 10.1126/scitranslmed.aaf2968. PMID: 28298418

Recent clinical studies

Etiology

Chi SN, Yi JS, Williams PM, Roy-Chowdhuri S, Patton DR, Coffey BD, Reid JM, Piao J, Saguilig L, Alonzo TA, Berg SL, Ramirez NC, Jaju A, Mhlanga JC, Fox E, Hawkins DS, Mooney MM, Takebe N, Tricoli JV, Janeway KA, Seibel NL, Parsons DW
J Natl Cancer Inst 2023 Nov 8;115(11):1355-1363. doi: 10.1093/jnci/djad085. PMID: 37228094Free PMC Article
Baliga S, Gandola L, Timmermann B, Gail H, Padovani L, Janssens GO, Yock TI
Pediatr Blood Cancer 2021 May;68 Suppl 2:e28395. Epub 2020 May 9 doi: 10.1002/pbc.28395. PMID: 32386126
Reddy AT, Strother DR, Judkins AR, Burger PC, Pollack IF, Krailo MD, Buxton AB, Williams-Hughes C, Fouladi M, Mahajan A, Merchant TE, Ho B, Mazewski CM, Lewis VA, Gajjar A, Vezina LG, Booth TN, Parsons KW, Poss VL, Zhou T, Biegel JA, Huang A
J Clin Oncol 2020 Apr 10;38(11):1175-1185. Epub 2020 Feb 27 doi: 10.1200/JCO.19.01776. PMID: 32105509Free PMC Article
Kristensen BW, Priesterbach-Ackley LP, Petersen JK, Wesseling P
Ann Oncol 2019 Aug 1;30(8):1265-1278. doi: 10.1093/annonc/mdz164. PMID: 31124566Free PMC Article
Gholamin S, Mitra SS, Feroze AH, Liu J, Kahn SA, Zhang M, Esparza R, Richard C, Ramaswamy V, Remke M, Volkmer AK, Willingham S, Ponnuswami A, McCarty A, Lovelace P, Storm TA, Schubert S, Hutter G, Narayanan C, Chu P, Raabe EH, Harsh G 4th, Taylor MD, Monje M, Cho YJ, Majeti R, Volkmer JP, Fisher PG, Grant G, Steinberg GK, Vogel H, Edwards M, Weissman IL, Cheshier SH
Sci Transl Med 2017 Mar 15;9(381) doi: 10.1126/scitranslmed.aaf2968. PMID: 28298418

Diagnosis

Chi SN, Yi JS, Williams PM, Roy-Chowdhuri S, Patton DR, Coffey BD, Reid JM, Piao J, Saguilig L, Alonzo TA, Berg SL, Ramirez NC, Jaju A, Mhlanga JC, Fox E, Hawkins DS, Mooney MM, Takebe N, Tricoli JV, Janeway KA, Seibel NL, Parsons DW
J Natl Cancer Inst 2023 Nov 8;115(11):1355-1363. doi: 10.1093/jnci/djad085. PMID: 37228094Free PMC Article
Petralia F, Tignor N, Reva B, Koptyra M, Chowdhury S, Rykunov D, Krek A, Ma W, Zhu Y, Ji J, Calinawan A, Whiteaker JR, Colaprico A, Stathias V, Omelchenko T, Song X, Raman P, Guo Y, Brown MA, Ivey RG, Szpyt J, Guha Thakurta S, Gritsenko MA, Weitz KK, Lopez G, Kalayci S, Gümüş ZH, Yoo S, da Veiga Leprevost F, Chang HY, Krug K, Katsnelson L, Wang Y, Kennedy JJ, Voytovich UJ, Zhao L, Gaonkar KS, Ennis BM, Zhang B, Baubet V, Tauhid L, Lilly JV, Mason JL, Farrow B, Young N, Leary S, Moon J, Petyuk VA, Nazarian J, Adappa ND, Palmer JN, Lober RM, Rivero-Hinojosa S, Wang LB, Wang JM, Broberg M, Chu RK, Moore RJ, Monroe ME, Zhao R, Smith RD, Zhu J, Robles AI, Mesri M, Boja E, Hiltke T, Rodriguez H, Zhang B, Schadt EE, Mani DR, Ding L, Iavarone A, Wiznerowicz M, Schürer S, Chen XS, Heath AP, Rokita JL, Nesvizhskii AI, Fenyö D, Rodland KD, Liu T, Gygi SP, Paulovich AG, Resnick AC, Storm PB, Rood BR, Wang P; Children’s Brain Tumor Network; Clinical Proteomic Tumor Analysis Consortium
Cell 2020 Dec 23;183(7):1962-1985.e31. Epub 2020 Nov 25 doi: 10.1016/j.cell.2020.10.044. PMID: 33242424Free PMC Article
Kristensen BW, Priesterbach-Ackley LP, Petersen JK, Wesseling P
Ann Oncol 2019 Aug 1;30(8):1265-1278. doi: 10.1093/annonc/mdz164. PMID: 31124566Free PMC Article
Brandão LA, Young Poussaint T
Neuroimaging Clin N Am 2017 Feb;27(1):1-37. doi: 10.1016/j.nic.2016.08.001. PMID: 27889018
Wu WW, Bi WL, Kang YJ, Ramkissoon SH, Prasad S, Shih HA, Reardon DA, Dunn IF
World Neurosurg 2016 Jan;85:197-204. Epub 2015 Sep 4 doi: 10.1016/j.wneu.2015.08.076. PMID: 26344637

Therapy

Chi SN, Yi JS, Williams PM, Roy-Chowdhuri S, Patton DR, Coffey BD, Reid JM, Piao J, Saguilig L, Alonzo TA, Berg SL, Ramirez NC, Jaju A, Mhlanga JC, Fox E, Hawkins DS, Mooney MM, Takebe N, Tricoli JV, Janeway KA, Seibel NL, Parsons DW
J Natl Cancer Inst 2023 Nov 8;115(11):1355-1363. doi: 10.1093/jnci/djad085. PMID: 37228094Free PMC Article
Marquardt V, Theruvath J, Pauck D, Picard D, Qin N, Blümel L, Maue M, Bartl J, Ahmadov U, Langini M, Meyer FD, Cole A, Cruz-Cruz J, Graef CM, Wölfl M, Milde T, Witt O, Erdreich-Epstein A, Leprivier G, Kahlert U, Stefanski A, Stühler K, Keir ST, Bigner DD, Hauer J, Beez T, Knobbe-Thomsen CB, Fischer U, Felsberg J, Hansen FK, Vibhakar R, Venkatraman S, Cheshier SH, Reifenberger G, Borkhardt A, Kurz T, Remke M, Mitra S
J Immunother Cancer 2023 Jan;11(1) doi: 10.1136/jitc-2022-005871. PMID: 36639156Free PMC Article
Reddy AT, Strother DR, Judkins AR, Burger PC, Pollack IF, Krailo MD, Buxton AB, Williams-Hughes C, Fouladi M, Mahajan A, Merchant TE, Ho B, Mazewski CM, Lewis VA, Gajjar A, Vezina LG, Booth TN, Parsons KW, Poss VL, Zhou T, Biegel JA, Huang A
J Clin Oncol 2020 Apr 10;38(11):1175-1185. Epub 2020 Feb 27 doi: 10.1200/JCO.19.01776. PMID: 32105509Free PMC Article
Kristensen BW, Priesterbach-Ackley LP, Petersen JK, Wesseling P
Ann Oncol 2019 Aug 1;30(8):1265-1278. doi: 10.1093/annonc/mdz164. PMID: 31124566Free PMC Article
Gholamin S, Mitra SS, Feroze AH, Liu J, Kahn SA, Zhang M, Esparza R, Richard C, Ramaswamy V, Remke M, Volkmer AK, Willingham S, Ponnuswami A, McCarty A, Lovelace P, Storm TA, Schubert S, Hutter G, Narayanan C, Chu P, Raabe EH, Harsh G 4th, Taylor MD, Monje M, Cho YJ, Majeti R, Volkmer JP, Fisher PG, Grant G, Steinberg GK, Vogel H, Edwards M, Weissman IL, Cheshier SH
Sci Transl Med 2017 Mar 15;9(381) doi: 10.1126/scitranslmed.aaf2968. PMID: 28298418

Prognosis

Giang LH, Wu KS, Lee WC, Chu SS, Do AD, Changou CA, Tran HM, Hsieh TH, Chen HH, Hsieh CL, Sung SY, Yu AL, Yen Y, Wong TT, Chang CC
J Exp Clin Cancer Res 2023 Dec 20;42(1):346. doi: 10.1186/s13046-023-02911-x. PMID: 38124207Free PMC Article
Corvino S, Del Basso De Caro M, Franca RA, Corazzelli G, Della Monica R, Chiariotti L, Maiuri F
World Neurosurg 2023 Nov;179:e404-e415. Epub 2023 Sep 1 doi: 10.1016/j.wneu.2023.08.107. PMID: 37659753
Reddy AT, Strother DR, Judkins AR, Burger PC, Pollack IF, Krailo MD, Buxton AB, Williams-Hughes C, Fouladi M, Mahajan A, Merchant TE, Ho B, Mazewski CM, Lewis VA, Gajjar A, Vezina LG, Booth TN, Parsons KW, Poss VL, Zhou T, Biegel JA, Huang A
J Clin Oncol 2020 Apr 10;38(11):1175-1185. Epub 2020 Feb 27 doi: 10.1200/JCO.19.01776. PMID: 32105509Free PMC Article
Kristensen BW, Priesterbach-Ackley LP, Petersen JK, Wesseling P
Ann Oncol 2019 Aug 1;30(8):1265-1278. doi: 10.1093/annonc/mdz164. PMID: 31124566Free PMC Article
Wu WW, Bi WL, Kang YJ, Ramkissoon SH, Prasad S, Shih HA, Reardon DA, Dunn IF
World Neurosurg 2016 Jan;85:197-204. Epub 2015 Sep 4 doi: 10.1016/j.wneu.2015.08.076. PMID: 26344637

Clinical prediction guides

Guo X, Chang M, Wang Y, Xing B, Ma W
Int J Biol Sci 2023;19(12):3762-3780. Epub 2023 Jul 24 doi: 10.7150/ijbs.85813. PMID: 37564196Free PMC Article
Chi SN, Yi JS, Williams PM, Roy-Chowdhuri S, Patton DR, Coffey BD, Reid JM, Piao J, Saguilig L, Alonzo TA, Berg SL, Ramirez NC, Jaju A, Mhlanga JC, Fox E, Hawkins DS, Mooney MM, Takebe N, Tricoli JV, Janeway KA, Seibel NL, Parsons DW
J Natl Cancer Inst 2023 Nov 8;115(11):1355-1363. doi: 10.1093/jnci/djad085. PMID: 37228094Free PMC Article
Broggi G, Gianno F, Shemy DT, Massimino M, Milanaccio C, Mastronuzzi A, Rossi S, Arcella A, Giangaspero F, Antonelli M
J Neurooncol 2022 Mar;157(1):1-14. Epub 2022 Feb 25 doi: 10.1007/s11060-022-03959-z. PMID: 35217948
Petralia F, Tignor N, Reva B, Koptyra M, Chowdhury S, Rykunov D, Krek A, Ma W, Zhu Y, Ji J, Calinawan A, Whiteaker JR, Colaprico A, Stathias V, Omelchenko T, Song X, Raman P, Guo Y, Brown MA, Ivey RG, Szpyt J, Guha Thakurta S, Gritsenko MA, Weitz KK, Lopez G, Kalayci S, Gümüş ZH, Yoo S, da Veiga Leprevost F, Chang HY, Krug K, Katsnelson L, Wang Y, Kennedy JJ, Voytovich UJ, Zhao L, Gaonkar KS, Ennis BM, Zhang B, Baubet V, Tauhid L, Lilly JV, Mason JL, Farrow B, Young N, Leary S, Moon J, Petyuk VA, Nazarian J, Adappa ND, Palmer JN, Lober RM, Rivero-Hinojosa S, Wang LB, Wang JM, Broberg M, Chu RK, Moore RJ, Monroe ME, Zhao R, Smith RD, Zhu J, Robles AI, Mesri M, Boja E, Hiltke T, Rodriguez H, Zhang B, Schadt EE, Mani DR, Ding L, Iavarone A, Wiznerowicz M, Schürer S, Chen XS, Heath AP, Rokita JL, Nesvizhskii AI, Fenyö D, Rodland KD, Liu T, Gygi SP, Paulovich AG, Resnick AC, Storm PB, Rood BR, Wang P; Children’s Brain Tumor Network; Clinical Proteomic Tumor Analysis Consortium
Cell 2020 Dec 23;183(7):1962-1985.e31. Epub 2020 Nov 25 doi: 10.1016/j.cell.2020.10.044. PMID: 33242424Free PMC Article
Wu WW, Bi WL, Kang YJ, Ramkissoon SH, Prasad S, Shih HA, Reardon DA, Dunn IF
World Neurosurg 2016 Jan;85:197-204. Epub 2015 Sep 4 doi: 10.1016/j.wneu.2015.08.076. PMID: 26344637

Recent systematic reviews

Gupta NK, Godbole N, Sanmugananthan P, Gunda S, Kasula V, Baggett M, Gajjar A, Kouam RW, D'Amico R, Rodgers S
World Neurosurg 2024 Jan;181:e504-e515. Epub 2023 Oct 21 doi: 10.1016/j.wneu.2023.10.089. PMID: 37871692
Egiz A, Kannan S, Asl SF
World Neurosurg 2022 Aug;164:216-227. Epub 2022 Apr 22 doi: 10.1016/j.wneu.2022.04.073. PMID: 35470083
Broggi G, Gianno F, Shemy DT, Massimino M, Milanaccio C, Mastronuzzi A, Rossi S, Arcella A, Giangaspero F, Antonelli M
J Neurooncol 2022 Mar;157(1):1-14. Epub 2022 Feb 25 doi: 10.1007/s11060-022-03959-z. PMID: 35217948
Bunevicius A, Matukevicius A, Deltuva V, Gudinaviciene I, Pranys D, Tamasauskas A
World Neurosurg 2018 May;113:129-134. Epub 2018 Feb 13 doi: 10.1016/j.wneu.2018.02.012. PMID: 29452330
Kanoto M, Toyoguchi Y, Hosoya T, Kuchiki M, Sugai Y
Clin Neuroradiol 2015 Mar;25(1):55-60. Epub 2014 Jan 30 doi: 10.1007/s00062-013-0282-2. PMID: 24477665

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