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Rhabdoid tumor(RDT)

MedGen UID:
64646
•Concept ID:
C0206743
•
Neoplastic Process
Synonyms: Malignant rhabdoid tumor; RDT
SNOMED CT: Rhabdoid sarcoma (83118000); Rhabdoid tumor (83118000); Malignant rhabdoid tumor (83118000); Malignant rhabdoid tumor (1156418001)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Related genes: SMARCB1, SMARCA4
 
HPO: HP:0034557
Monarch Initiative: MONDO:0002728
OMIM®: 609322
Orphanet: ORPHA69077

Definition

Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues. [from HPO]

Professional guidelines

PubMed

ESTRO-SIOPE guideline: Clinical management of radiotherapy in atypical teratoid/rhabdoid tumors (AT/RTs).
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
Disrupting the CD47-SIRPα anti-phagocytic axis by a humanized anti-CD47 antibody is an efficacious treatment for malignant pediatric brain tumors.
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
Biology and Treatment of Rhabdoid Tumor.
Geller JI, Roth JJ, Biegel JA
Crit Rev Oncog 2015;20(3-4):199-216. doi: 10.1615/critrevoncog.2015013566. PMID: 26349416Free PMC Article

Recent clinical studies

Etiology

Tazemetostat for tumors harboring SMARCB1/SMARCA4 or EZH2 alterations: results from NCI-COG pediatric MATCH APEC1621C.
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
NSD1 mediates antagonism between SWI/SNF and polycomb complexes and is required for transcriptional activation upon EZH2 inhibition.
Drosos Y, Myers JA, Xu B, Mathias KM, Beane EC, Radko-Juettner S, Mobley RJ, Larsen ME, Piccioni F, Ma X, Low J, Hansen BS, Peters ST, Bhanu NV, Dhanda SK, Chen T, Upadhyaya SA, Pruett-Miller SM, Root DE, Garcia BA, Partridge JF, Roberts CWM
Mol Cell 2022 Jul 7;82(13):2472-2489.e8. Epub 2022 May 9 doi: 10.1016/j.molcel.2022.04.015. PMID: 35537449Free PMC Article
Efficacy of High-Dose Chemotherapy and Three-Dimensional Conformal Radiation for Atypical Teratoid/Rhabdoid Tumor: A Report From the Children's Oncology Group Trial ACNS0333.
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
Molecular subgrouping of atypical teratoid/rhabdoid tumors-a reinvestigation and current consensus.
Ho B, Johann PD, Grabovska Y, De Dieu Andrianteranagna MJ, Yao F, Frühwald M, Hasselblatt M, Bourdeaut F, Williamson D, Huang A, Kool M
Neuro Oncol 2020 May 15;22(5):613-624. doi: 10.1093/neuonc/noz235. PMID: 31889194Free PMC Article
Molecular pathology of tumors of the central nervous system.
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

Diagnosis

Fetal Disseminated Malignant Rhabdoid Tumor.
Tung S, Heffernan J, Morton SU, Aziz-Bose R, Estroff JA
Neoreviews 2022 Aug 1;23(8):e595-e602. doi: 10.1542/neo.23-8-e595. PMID: 35909108
SMARCB1/INI1-deficient tumors of adulthood.
Parker NA, Al-Obaidi A, Deutsch JM
F1000Res 2020;9:662. Epub 2020 Jun 30 doi: 10.12688/f1000research.24808.2. PMID: 33796273Free PMC Article
Pediatric Brain Tumors.
Udaka YT, Packer RJ
Neurol Clin 2018 Aug;36(3):533-556. doi: 10.1016/j.ncl.2018.04.009. PMID: 30072070
Adult Atypical Teratoid/Rhabdoid Tumors.
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
Biology and Treatment of Rhabdoid Tumor.
Geller JI, Roth JJ, Biegel JA
Crit Rev Oncog 2015;20(3-4):199-216. doi: 10.1615/critrevoncog.2015013566. PMID: 26349416Free PMC Article

Therapy

Tazemetostat for tumors harboring SMARCB1/SMARCA4 or EZH2 alterations: results from NCI-COG pediatric MATCH APEC1621C.
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
Tacedinaline (CI-994), a class I HDAC inhibitor, targets intrinsic tumor growth and leptomeningeal dissemination in MYC-driven medulloblastoma while making them susceptible to anti-CD47-induced macrophage phagocytosis via NF-kB-TGM2 driven tumor inflammation.
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
Efficacy of High-Dose Chemotherapy and Three-Dimensional Conformal Radiation for Atypical Teratoid/Rhabdoid Tumor: A Report From the Children's Oncology Group Trial ACNS0333.
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
Molecular pathology of tumors of the central nervous system.
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
Disrupting the CD47-SIRPα anti-phagocytic axis by a humanized anti-CD47 antibody is an efficacious treatment for malignant pediatric brain tumors.
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

Efficacy of High-Dose Chemotherapy and Three-Dimensional Conformal Radiation for Atypical Teratoid/Rhabdoid Tumor: A Report From the Children's Oncology Group Trial ACNS0333.
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
Molecular pathology of tumors of the central nervous system.
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
Adult Atypical Teratoid/Rhabdoid Tumors.
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
Fetal and neonatal rhabdoid tumor.
Isaacs H Jr
J Pediatr Surg 2010 Mar;45(3):619-26. doi: 10.1016/j.jpedsurg.2009.12.011. PMID: 20223330
Pediatric renal tumors.
Shamberger RC
Semin Surg Oncol 1999 Mar;16(2):105-20. doi: 10.1002/(sici)1098-2388(199903)16:2<105::aid-ssu4>3.0.co;2-t. PMID: 9988867

Clinical prediction guides

B7-H3 in Brain Malignancies: Immunology and Immunotherapy.
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
Normal and tumor-derived organoids as a drug screening platform for tumor-specific drug vulnerabilities.
Calandrini C, Drost J
STAR Protoc 2022 Mar 18;3(1):101079. Epub 2022 Jan 10 doi: 10.1016/j.xpro.2021.101079. PMID: 35036959Free PMC Article
Recent updates in thoracic SMARCA4-deficient undifferentiated tumor.
Nambirajan A, Jain D
Semin Diagn Pathol 2021 Sep;38(5):83-89. Epub 2021 Jun 4 doi: 10.1053/j.semdp.2021.06.001. PMID: 34147303
SWI/SNF complex-deficient soft tissue neoplasms: An update.
Schaefer IM, Hornick JL
Semin Diagn Pathol 2021 May;38(3):222-231. Epub 2020 Jun 5 doi: 10.1053/j.semdp.2020.05.005. PMID: 32646614Free PMC Article
Integrated Proteogenomic Characterization across Major Histological Types of Pediatric Brain Cancer.
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

Recent systematic reviews

Management of Atypical Teratoid/Rhabdoid Tumors in the Pediatric Population: A Systematic Review and Meta-Analysis.
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
The Impact of Surgical Resection and Adjuvant Therapy on Survival in Pediatric Patients with Atypical Teratoid/Rhabdoid Tumor: Systematic Review and Pooled Survival Analysis.
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
Atypical teratoid/rhabdoid tumor in adults: a systematic review of the literature with meta-analysis and additional reports of 4 cases.
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
Atypical Teratoid/Rhabdoid Tumor After In Vitro Fertilization: Illustrative Case Report and Systematic Literature Review.
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
Fetal and neonatal rhabdoid tumor.
Isaacs H Jr
J Pediatr Surg 2010 Mar;45(3):619-26. doi: 10.1016/j.jpedsurg.2009.12.011. PMID: 20223330

Supplemental Content

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