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Central Nervous System Embryonal Tumor with Rhabdoid Features

MedGen UID:
1384368
Concept ID:
C4329629
Neoplastic Process
Synonym: CNS Embryonal Tumor with Rhabdoid Features

Definition

A central nervous system embryonal neoplasm characterized by the presence of histological features consistent with atypical teratoid/rhabdoid tumor and absence of mutations of the INI1 gene or SMARCA4 (BRG1) gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCentral Nervous System Embryonal Tumor with Rhabdoid Features

Professional guidelines

PubMed

Bhutada AS, Adhikari S, Cuoco JA, Rogers CM, Marvin EA
Oncology 2024;102(2):183-194. Epub 2023 Aug 25 doi: 10.1159/000533508. PMID: 37634491
Garrè ML, Tekautz T
Pediatr Blood Cancer 2010 Apr;54(4):647-8. doi: 10.1002/pbc.22377. PMID: 20146222

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
Federico A, Thomas C, Miskiewicz K, Woltering N, Zin F, Nemes K, Bison B, Johann PD, Hawes D, Bens S, Kordes U, Albrecht S, Dohmen H, Hauser P, Keyvani K, van Landeghem FKH, Lund EL, Scheie D, Mawrin C, Monoranu CM, Parm Ulhøi B, Pietsch T, Reinhard H, Riemenschneider MJ, Sehested A, Sumerauer D, Siebert R, Paulus W, Frühwald MC, Kool M, Hasselblatt M
Acta Neuropathol 2022 Jun;143(6):697-711. Epub 2022 Apr 30 doi: 10.1007/s00401-022-02424-5. PMID: 35501487Free PMC Article
Thomas C, Federico A, Sill M, Bens S, Oyen F, Nemes K, Johann PD, Hartmann C, Hartmann W, Sumerauer D, Paterno V, Samii A, Kordes U, Siebert R, Frühwald MC, Paulus W, Kool M, Hasselblatt M
Am J Surg Pathol 2021 Sep 1;45(9):1228-1234. doi: 10.1097/PAS.0000000000001694. PMID: 33739782
Pinheiro JAF, de Almeida JCM, Lopes JMPB
J Pediatr Hematol Oncol 2021 Apr 1;43(3):79-89. doi: 10.1097/MPH.0000000000001923. PMID: 32925406
Pickles JC, Hawkins C, Pietsch T, Jacques TS
Neuropathol Appl Neurobiol 2018 Feb;44(2):151-162. doi: 10.1111/nan.12443. PMID: 28949028

Diagnosis

Thomas C, Federico A, Sill M, Bens S, Oyen F, Nemes K, Johann PD, Hartmann C, Hartmann W, Sumerauer D, Paterno V, Samii A, Kordes U, Siebert R, Frühwald MC, Paulus W, Kool M, Hasselblatt M
Am J Surg Pathol 2021 Sep 1;45(9):1228-1234. doi: 10.1097/PAS.0000000000001694. PMID: 33739782
Pinheiro JAF, de Almeida JCM, Lopes JMPB
J Pediatr Hematol Oncol 2021 Apr 1;43(3):79-89. doi: 10.1097/MPH.0000000000001923. PMID: 32925406
Cole BL, Pierson CR
Surg Pathol Clin 2020 Dec;13(4):783-800. Epub 2020 Oct 9 doi: 10.1016/j.path.2020.08.005. PMID: 33183733
Shih RY, Koeller KK
Radiographics 2018 Mar-Apr;38(2):525-541. doi: 10.1148/rg.2018170182. PMID: 29528832
Pickles JC, Hawkins C, Pietsch T, Jacques TS
Neuropathol Appl Neurobiol 2018 Feb;44(2):151-162. doi: 10.1111/nan.12443. PMID: 28949028

Therapy

Horiguchi H, Nakata S, Nobusawa S, Uyama S, Miyamoto T, Ueta H, Fujimoto N, Yokoo H
Neuropathology 2017 Feb;37(1):52-57. Epub 2016 Jun 14 doi: 10.1111/neup.12317. PMID: 27297614
Ferri Niguez B, Martínez-Lage JF, Almagro MJ, Fuster JL, Serrano C, Torroba MA, Sola J
Childs Nerv Syst 2010 Aug;26(8):1003-8. Epub 2010 May 25 doi: 10.1007/s00381-010-1179-x. PMID: 20499240
Garrè ML, Tekautz T
Pediatr Blood Cancer 2010 Apr;54(4):647-8. doi: 10.1002/pbc.22377. PMID: 20146222
Athale UH, Duckworth J, Odame I, Barr R
J Pediatr Hematol Oncol 2009 Sep;31(9):651-63. doi: 10.1097/MPH.0b013e3181b258a9. PMID: 19707161
Reddy AT
J Neurooncol 2005 Dec;75(3):309-13. doi: 10.1007/s11060-005-6762-8. PMID: 16195799

Prognosis

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
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
Pinheiro JAF, de Almeida JCM, Lopes JMPB
J Pediatr Hematol Oncol 2021 Apr 1;43(3):79-89. doi: 10.1097/MPH.0000000000001923. PMID: 32925406
Pickles JC, Hawkins C, Pietsch T, Jacques TS
Neuropathol Appl Neurobiol 2018 Feb;44(2):151-162. doi: 10.1111/nan.12443. PMID: 28949028
Reddy AT
J Neurooncol 2005 Dec;75(3):309-13. doi: 10.1007/s11060-005-6762-8. PMID: 16195799

Clinical prediction guides

Wu HW, Wu CH, Lin SC, Wu CC, Chen HH, Chen YW, Lee YY, Chang FC
Cancer Med 2023 May;12(9):10449-10461. Epub 2023 Mar 14 doi: 10.1002/cam4.5780. PMID: 36916326Free 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
Archer TC, Sengupta S, Pomeroy SL
Handb Clin Neurol 2018;148:785-797. doi: 10.1016/B978-0-444-64076-5.00050-8. PMID: 29478614
Pickles JC, Hawkins C, Pietsch T, Jacques TS
Neuropathol Appl Neurobiol 2018 Feb;44(2):151-162. doi: 10.1111/nan.12443. PMID: 28949028
Perreault S, Lober RM, Carret AS, Zhang G, Hershon L, Décarie JC, Yeom K, Vogel H, Fisher PG, Partap S
J Neurooncol 2013 Nov;115(2):209-15. Epub 2013 Aug 7 doi: 10.1007/s11060-013-1213-4. PMID: 23921420

Recent systematic reviews

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

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