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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.
 
Related genes: SMARCB1, SMARCA4
 
Monarch Initiative: MONDO:0002728
OMIM®: 609322
Orphanet: ORPHA69077

Definition

An aggressive neoplasm that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. The disease usually occurs in infancy or childhood, exceptional cases can occur in adolescents and adults. 90% of cases have biallelic inactivation of SMARCB1 (22q11.23). Rare cases are associated with a biallelic mutation of SMARCA4 (19p13.3) (encoding another SWI/SNF chromatin-remodeling complex member). In 25% of cases, the disease is associated with a germline mutation of SMARCB1. Rarely, germline mutations are inherited from asymptomatic parents, either because of gonadal mosaicism or incomplete penetrant mutations. The survival rate is low with a 5 year survival rate of 20%. [from SNOMEDCT_US]

Professional guidelines

PubMed

Geller JI, Roth JJ, Biegel JA
Crit Rev Oncog 2015;20(3-4):199-216. doi: 10.1615/critrevoncog.2015013566. PMID: 26349416Free PMC Article
Chokoeva AA, Tchernev G, Cardoso JC, Patterson JW, Dechev I, Valkanov S, Zanardelli M, Lotti T, Wollina U
Int J Immunopathol Pharmacol 2015 Jun;28(2):168-77. Epub 2015 Mar 26 doi: 10.1177/0394632015576029. PMID: 25816394
Chokoeva AA, Tchernev G, Cardoso JC, Patterson JW, Dechev I, Valkanov S, Zanardelli M, Lotti T, Wollina U
Int J Immunopathol Pharmacol 2015 Jun;28(2):178-86. Epub 2015 Mar 26 doi: 10.1177/0394632015575977. PMID: 25816393

Recent clinical studies

Etiology

Gianno F, Miele E, Antonelli M, Giangaspero F
Indian J Pathol Microbiol 2022 May;65(Supplement):S73-S82. doi: 10.4103/ijpm.ijpm_1049_21. PMID: 35562137
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
Meyers R, Hiyama E, Czauderna P, Tiao GM
Surg Oncol Clin N Am 2021 Apr;30(2):253-274. doi: 10.1016/j.soc.2020.11.006. PMID: 33706899
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
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

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
Udaka YT, Packer RJ
Neurol Clin 2018 Aug;36(3):533-556. doi: 10.1016/j.ncl.2018.04.009. PMID: 30072070
Pawel BR
Pediatr Dev Pathol 2018 Jan-Feb;21(1):6-28. Epub 2017 Dec 27 doi: 10.1177/1093526617749671. PMID: 29280680
Kohashi K, Oda Y
Cancer Sci 2017 Apr;108(4):547-552. Epub 2017 Apr 12 doi: 10.1111/cas.13173. PMID: 28109176Free 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

Therapy

Hingorani P, Zhang W, Zhang Z, Xu Z, Wang WL, Roth ME, Wang Y, Gill JB, Harrison DJ, Teicher BA, Erickson SW, Gatto G, Kolb EA, Smith MA, Kurmasheva RT, Houghton PJ, Gorlick R
Mol Cancer Ther 2022 Aug 2;21(8):1318-1325. doi: 10.1158/1535-7163.MCT-21-0758. PMID: 35657346
Bakouny Z, Braun DA, Shukla SA, Pan W, Gao X, Hou Y, Flaifel A, Tang S, Bosma-Moody A, He MX, Vokes N, Nyman J, Xie W, Nassar AH, Abou Alaiwi S, Flippot R, Bouchard G, Steinharter JA, Nuzzo PV, Ficial M, Sant'Angelo M, Forman J, Berchuck JE, Dudani S, Bi K, Park J, Camp S, Sticco-Ivins M, Hirsch L, Baca SC, Wind-Rotolo M, Ross-Macdonald P, Sun M, Lee GM, Chang SL, Wei XX, McGregor BA, Harshman LC, Genovese G, Ellis L, Pomerantz M, Hirsch MS, Freedman ML, Atkins MB, Wu CJ, Ho TH, Linehan WM, McDermott DF, Heng DYC, Viswanathan SR, Signoretti S, Van Allen EM, Choueiri TK
Nat Commun 2021 Feb 5;12(1):808. doi: 10.1038/s41467-021-21068-9. PMID: 33547292Free PMC Article
Theruvath J, Sotillo E, Mount CW, Graef CM, Delaidelli A, Heitzeneder S, Labanieh L, Dhingra S, Leruste A, Majzner RG, Xu P, Mueller S, Yecies DW, Finetti MA, Williamson D, Johann PD, Kool M, Pfister S, Hasselblatt M, Frühwald MC, Delattre O, Surdez D, Bourdeaut F, Puget S, Zaidi S, Mitra SS, Cheshier S, Sorensen PH, Monje M, Mackall CL
Nat Med 2020 May;26(5):712-719. Epub 2020 Apr 27 doi: 10.1038/s41591-020-0821-8. PMID: 32341579Free 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

Prognosis

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
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
Pawel BR
Pediatr Dev Pathol 2018 Jan-Feb;21(1):6-28. Epub 2017 Dec 27 doi: 10.1177/1093526617749671. PMID: 29280680
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

Patil P, Pencheva BB, Patil VM, Fangusaro J
Neurotherapeutics 2022 Oct;19(6):1752-1771. Epub 2022 Sep 2 doi: 10.1007/s13311-022-01277-w. PMID: 36056180Free PMC Article
Sherif S, Roelands J, Mifsud W, Ahmed EI, Raynaud CM, Rinchai D, Sathappan A, Maaz A, Saleh A, Ozer E, Fakhro KA, Mifsud B, Thorsson V, Bedognetti D, Hendrickx WRL
J Exp Clin Cancer Res 2022 Jun 11;41(1):199. doi: 10.1186/s13046-022-02397-z. PMID: 35690832Free PMC Article
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
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
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

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
Spina A, Gagliardi F, Boari N, Bailo M, Mortini P
World Neurosurg 2017 Aug;104:612-618. Epub 2017 Apr 28 doi: 10.1016/j.wneu.2017.04.132. PMID: 28461278
Isaacs H Jr
J Pediatr Surg 2010 Mar;45(3):619-26. doi: 10.1016/j.jpedsurg.2009.12.011. PMID: 20223330

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