The site of the Media Sphera Publishers contains materials intended solely for healthcare professionals.
By closing this message, you confirm that you are a certified medical professional or a student of a medical educational institution.

Login
EN
+7 (495) 482-4118
+7 (495) 482-4329
+8 800 250-18-12
  • (toll-free number for subscriptions)
    Mon-Fri from 10 a.m. to 6 p.m.

  • © 1998-2026
+7 (495) 482-43-29
EN
All journals
Journal
Year
Year
Search result: 0

Ryzhova M.V.

FGBU "NII neĭrokhirurgii im. akad. N.N. Burdenko" RAMN, Moskva

Kadyrov Sh.U.

NII neĭrokhirurgii im. akad. N.N. Burdenko RAMN, Moskva

Kumirova .V.

FGBU "Federal'nyĭ nauchno-klinicheskiĭ tsentr detskoĭ gematologii, onkologii i immunologii im. Dmitriia Rogacheva" Minzdrava RF

Shishkina L.V.

Burdenko Neurosurgery Institute, Moscow, Russia

Nikitin P.V.

Burdenko Neurosurgery Institute, 4-ya Tverskaya-Yamskaya Str., 16, Moscow, Russia, 125047

Panina T.N.

NII neĭrokhirurgii im. akad. N.N. Burdenko RAMN, Moskva

Shibaeva I.V.

Burdenko Neurosurgical Institute, Moscow, Russia, 125047

Shugay S.V.

Burdenko Neurosurgical Institute, Moscow, Russia, 125047

Starovoytov D.V.

Burdenko Neurosurgical Institute, Moscow, Russia

Sycheva R.V.

FGBU "Nauchno-issledovatel'skiĭ institut neĭrokhirurgii im. akad. N.N. Burdenko"

Zubova I.V.

Acad. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia, Moscow, Russia

Central nervous system atypical teratoid/rhabdoid tumor without loss of nuclear expression of INI1

Authors:

Ryzhova M.V., Kadyrov Sh.U., Kumirova .V., Shishkina L.V., Nikitin P.V., Panina T.N., Shibaeva I.V., Shugay S.V., Starovoytov D.V., Sycheva R.V., Zubova I.V.

More about the authors

Journal: Russian Journal of Archive of Pathology. 2019;81(2): 36‑42

DOI: 10.17116/patol20198102136

Read: 3381 times

Download PDF (RU)
Contact the author
Table of contents

CENTRAL NERVOUS SYSTEM ATYPICAL TERATOID/RHABDOID TUMOR WITHOUT LOSS OF NUCLEAR EXPRESSION OF INI1
CENTRAL NERVOUS SYSTEM ATYPICAL TERATOID/RHABDOID TUMOR WITHOUT LOSS OF NUCLEAR EXPRESSION OF INI1

To cite this article:

Ryzhova MV, Kadyrov ShU, Kumirova V, et al. . Central nervous system atypical teratoid/rhabdoid tumor without loss of nuclear expression of INI1. Russian Journal of Archive of Pathology. 2019;81(2):36‑42. (In Russ.)
https://doi.org/10.17116/patol20198102136

Подписка 2026 Архив патологии (Russian Journal of Archive of Pathology)
МСФ на ЯМ
Использование инфографики авторами научных работ
Close metadata
Abstract:

The paper describes a clinical case of atypical teratoid/rhabdoid tumor with preserved INI1 expression and SMARCA4 gene mutations in an 8-month-old girl. Genome-wide DNA methylation, hierarchical clustering, and next-generation sequencing were used to make a tumor diagnosis. However, BRG1 immunohistochemical examination may be recommended in the routine practice of diagnosis and study of childhood CNS malignant tumors.

Keywords:

atypical teratoid/rhabdoid tumor
SMARCB1 and SMARCA4 gene mutations
INI1 and BRG1

Authors:

Ryzhova M.V.

FGBU "NII neĭrokhirurgii im. akad. N.N. Burdenko" RAMN, Moskva

Kadyrov Sh.U.

NII neĭrokhirurgii im. akad. N.N. Burdenko RAMN, Moskva

Kumirova .V.

FGBU "Federal'nyĭ nauchno-klinicheskiĭ tsentr detskoĭ gematologii, onkologii i immunologii im. Dmitriia Rogacheva" Minzdrava RF

Shishkina L.V.

Burdenko Neurosurgery Institute, Moscow, Russia

Nikitin P.V.

Burdenko Neurosurgery Institute, 4-ya Tverskaya-Yamskaya Str., 16, Moscow, Russia, 125047

Panina T.N.

NII neĭrokhirurgii im. akad. N.N. Burdenko RAMN, Moskva

Shibaeva I.V.

Burdenko Neurosurgical Institute, Moscow, Russia, 125047

Shugay S.V.

Burdenko Neurosurgical Institute, Moscow, Russia, 125047

Starovoytov D.V.

Burdenko Neurosurgical Institute, Moscow, Russia

Sycheva R.V.

FGBU "Nauchno-issledovatel'skiĭ institut neĭrokhirurgii im. akad. N.N. Burdenko"

Zubova I.V.

Acad. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia, Moscow, Russia

Close metadata

References:

  1. Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, eds. WHO Classification of tumours of the central nervous system. 4th ed. Lyon: IARC. 2016.
  2. Judkins AR, Mauger J, Ht A, Rorke LB, Biegel JA. Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol. 2004;28(5):644-650.
  3. Judkins AR. Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology. Adv Anat Pathol. 2007;14(5):335-339.
  4. Sturm D, Orr BA, Toprak UH, Hovestadt V, Jones DTW, Capper D, Sill M, Buchhalter I, Northcott PA, Leis I, et al. New Brain tumor entities emerge from molecular classification of CNS-PNETs. Cell. 2016;164(5):1060-1072. https://doi.org/1016/j.cell.2016.01.015
  5. Sturm D, Witt H, Hovestadt V, Khuong-Quang DA, Jones DT, Konermann C, Pfaff E, Tönjes M, Sill M, Bender S, et al. Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. Cancer Cell. 2012;22(4):425-437. https://doi.org/10.1016/j.ccr.2012.08.024
  6. Johann PD, Erkek S, Zapatka M, Kerl K, Buchhalter I, Hovestadt V, Jones DTW, Sturm D, Hermann C, Segura Wang M, et al. Atypical teratoid/rhabdoid tumors are comprised of three epigenetic subgroups with distinct enhancer landscapes. Cancer Cell. 2016;29(3):379-393. https://doi.org/10.1016/j.ccell.2016.02.001
  7. Korshunov A, Sahm F, Stichel D, Schrimpf D, Ryzhova M, Zheludkova O, Golanov A, Lichter P, Jones DTW, von Deimling A, Pfister SM, Kool M. Molecular characterization of medulloblastomas with extensive nodularity (MBEN). Acta Neuropathol. 2018;136(2):303-313. https://doi.org/10.1007/s00401-018-1840-0
  8. Lefkowitz IB, Rorke LB, Packer RJ, Sutton LN, Siegel KR, Katnick RJ. Atypical teratoid tumor of infancy: definition of an entity. Ann Neurol. 1987;22:448-449.
  9. Rorke LB, Packer RJ, Biegel JA. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg. 1996;85(1):56-65.
  10. Kleihues P, Louis DN, Scheithauer BW, Rorke LB, Reifenberger G, Burger PC, Cavenee WK. The WHO classification of tumors of the nervous system. J Neuropathol Exp Neurol. 2002;61(3):215-225; discussion 226-229.
  11. Hasselblatt M, Isken S, Linge A, Eikmeier K, Jeibmann A, Oyen F, Nagel I, Richter J, Bartelheim K, Kordes U, Schneppenheim R, Frühwald M, Siebert R, Paulus W. High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors. Genes Chromosomes Cancer. 2013;52(2):185-190. https://doi.org/10.1002/gcc.22018
  12. Tsai CY, Wong TT, Lee YH, Chao ME, Lin SC, Liu DJ, Liang ML, Wang HW, Ho DM. Intact INI1 gene region with paradoxical loss of protein expression in AT/RT: implications for a possible novel mechanism associated with absence of INI1 protein immunoreactivity. Am J Surg Pathol. 2012;36(1):128-133. https://doi.ogr/10.1097/PAS.0b013e3182348cc4
  13. Hasselblatt M, Gesk S, Oyen F, Rossi S, Viscardi E, Giangaspero F, Giannini C, Judkins AR, Frühwald MC, Obser T, Schneppenheim R, Siebert R, Paulus W. Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoidtumor showing retained SMARCB1 (INI1) expression. Am J Surg Pathol. 2011;35(6):933-935. https://doi.org/10.1097/PAS.0b013e3182196a39
  14. Hasselblatt M, Nagel I, Oyen F, Bartelheim K, Russell RB, Schüller U, Junckerstorff R, Rosenblum M, Alassiri AH, Rossi S, Schmid I, Gottardo NG, Toledano H, Viscardi E, Balbin M, Witkowski L, Lu Q, Betts MJ, Foulkes WD, Siebert R, Frühwald MC, Schneppenheim R. SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. Acta Neuropathol. 2014;128(3):453-456. https://doi.org/10.1007/s00401-014-1323-x
  15. Ho DM, Shih CC, Liang ML, Tsai CY, Hsieh TH, Tsai CH, Lin SC, Chang TY, Chao ME, Wang HW, Wong TT. Integrated genomics has identified a new AT/RT-like yet INI1-positive brain tumor subtype among primary pediatric embryonal tumors. BMC Med Genomics. 2015;8:32. https://doi.org/10.1186/s12920-015-0103-3
  16. Masliah-Planchon J, Machet MC, Fréneaux P, Jourdain A, Mortemousque I, Raïs KA, Ballet S, Jouvet A, Figarella-Branger D, Delattre O, Bourdeaut F. SMARCA4-mutated atypical teratoid/Rrhabdoid tumor with retained BRG1 expression. Pediatr Blood Cancer. 2016;63(3):568-569. https://doi.org/10.1002/pbc.25772
  17. Bookhout C, Bouldin TW, Ellison DW. Atypical teratoid/rhabdoid tumor with retained INI1 (SMARCB1) expression and loss of BRG1 (SMARCA4). Neuropathology. 2018;38(3):305-308. https://doi.org/10.1111/neup.12452
  18. Biswas A, Kashyap L, Kakkar A, Sarkar C, Julka PK. Atypical teratoid/rhabdoid tumors: challenges and search for solutions. Cancer Manag Res. 2016;8:115-125.
  19. Frühwald MC, Biegel JA, Bourdeaut F, Roberts CW, Chi SN. Atypical teratoid/rhabdoid tumors-current concepts, advances in biology, and potential future therapies. Neuro Oncol. 2016;18(6):764-778. https://doi.org/10.1093/neuonc/nov264
  20. Al-Hussaini M, Dissi N, Souki C, Amayiri N. Atypical teratoid/ rhabdoid tumor, an immunohistochemical study of potential diagnostic and prognostic markers. Neuropathology. 2016;36(1):17-26. https://doi.ogr/10.1111/neup.12231
  21. Korshunov A, Ryzhova M, Jones DT, Northcott PA, van Sluis P, Volckmann R, Koster J, Versteeg R, Cowdrey C, Perry A, et al. LIN28A immunoreactivity is a potent diagnostic marker of embryonal tumor with multilayered rosettes (ETMR). Acta Neuropathol. 2012;124(6):875-881. https://doi.org/10.1007/s00401-012-1068-3
  22. Schneppenheim R, Frühwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I, Siebert R. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet. 2010;86(2):279-284. https://doi.org/10.1016/j.ajhg.2010.01.013
  23. Waszak SM, Northcott PA, Buchhalter I, Robinson GW, Sutter C, Groebner S, Grund KB, Brugières L, Jones DTW, Pajtler KW, et al. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. Lancet Oncol. 2018;19(6):785-798. https://doi.org/10.1016/S1470-2045(18)30242-0
  24. Capper D, Stichel D, Sahm F, Jones DTW, Schrimpf D, Sill M, Schmid S, Hovestadt V, Reuss DE, Koelsche C, et al. Practical implementation of DNA methylation and copy-number based CNS tumor diagnostics: the Heidelberg experience. Acta Neuropathol. 2018;136(2):181-210. https://doi.org/10.1007/s00401-018-1879-y
Contact the author
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.

Email Confirmation

An email was sent to test@gmail.com with a confirmation link. Follow the link from the letter to complete the registration on the site.

Email Confirmation

Contact us
If you have any questions, complaints or suggestions, please use this feedback form.
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.
Submit Application

You can become an author of one of our magazines, send a request and we will consider it in during the day.

Name
Phone
E-mail
Message
Login
Registration
E-mail
Password
Forgot Password?

Log in to the site using your account in one of the services

Password recovery
E-mail
Login
Register

We use cооkies to improve the performance of the site. By staying on our site, you agree to the terms of use of cооkies. To view our Privacy and Cookie Policy, please. click here.