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2025, Número 1

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Acta Pediatr Mex 2025; 46 (1)


Tumor rabdoide/teratoide atípico leptomeníngeo difuso primario diagnosticado en estudio post mortem

Corcuera DCT, Ramírez RAG, Sarmiento AMA, Gómez GG

Idioma: Español
Referencias bibliográficas: 30
Paginas: 62-70
Archivo PDF: 643.72 Kb.


FRAGMENTO

INTRODUCCIÓN

El tumor teratoide/rabdoide atípico (AT/RT, siglas en inglés) es una neoplasia embrionaria de alto grado del sistema nervioso central (SNC), grado IV de la OMS, compuesta por células indiferenciadas que alternan con células rabdoides y con potencial para diferenciarse a lo largo de líneas neuroectodérmica, epitelial y mesenquimal. El AT/RT leptomeníngeo difuso primario, que afecta a las leptomeninges sin evidencia de tumor intraaxial en encéfalo o médula espinal, es extremadamente raro. La característica genética recurrente principal es la deleción del gen hSNF5/INI1/SMARCB1 en la mayoría de los casos, localizado en el locus 22q11.2, misma alteración genética que comparten con los tumores rabdoides malignos renales y extrarrenales (en tejidos blandos) en la población pediátrica. Por lo general, afecta a niños menores de 1 año de vida, y rara vez ocurre en adolescentes y adultos.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Wesseling P, Haberler C, Huang Annie, et al. Atypical teratoid/rhabdoid tumour. In: WHO Classification of TumoursEditorial Board. Paediatric tumours [Internet]. Lyon (France):International Agency for Research on Cancer; 2022[cited 2025-01-31]. (WHO classification of tumours series,5th ed.; vol. 7). Available from: https://tumourclassification.iarc.who.int/chapters/44.

  2. Versteege, I., Sévenet, N., Lange, J., Rousseau-Merck, M.F., Ambros, P., Handgretinger, R., Aurias, A., & Delattre, O.Truncating mutations of hSNF5/INI1 in aggressive paediatriccancer. Nature.1998;394(6689):203-206. https://doi.org/10.1038/28212

  3. Biegel, J. A., Tan, L., Zhang, F., Wainwright, L., Russo, P., &Rorke, L. B. Alterations of the hSNF5/INI1 gene in centralnervous system atypical teratoid/rhabdoid tumors andrenal and extrarenal rhabdoid tumors. Clinical cancerresearch: an official journal of the American Associationfor Cancer Research. 2002;8(11):3461-3467.

  4. Ostrom, Q. T., Chen, Y., M de Blank, P., Ondracek, A., Farah,P., Gittleman, H., Wolinsky, Y., Kruchko, C., Cohen, M. L.,Brat, D. J., & Barnholtz-Sloan, J. S. The descriptive epidemiologyof atypical teratoid/rhabdoid tumors in the UnitedStates, 2001-2010. Neuro-oncology. 2014;16(10):1392-1399 https://doi.org/10.1093/neuonc/nou090

  5. Chan, V., Marro, A., Findlay, J. M., Schmitt, L. M., & Das, S.A Systematic Review of Atypical Teratoid Rhabdoid Tumorin Adults. Frontiers in oncology. 2018;8: 567. https://doi.org/10.3389/fonc.2018.00567

  6. El-Nabbout B, Shbarou R, Glasier CM, Saad AG. Primarydiffuse cerebral leptomeningeal atypical teratoidrhabdoid tumor: report of the first case. J Neurooncol.2010;98(3):431-4. doi: 10.1007/s11060-009-0094-z. Epub2009 Dec 19. PMID: 20020178.

  7. Gauvain KM, Durham BH, McHugh M, Geller TJ. Rapidlyprogressive primary leptomeningeal atypical teratoid/rhabdoid tumor: a report of 2 cases. J Child Neurol.2012;27(12):1597-601. doi: 10.1177/0883073812436878.Epub 2012 Feb 28. PMID: 22378667.

  8. Livermore LJ, Dabbous B, Hofer M, Kueker W, JayamohanJ, Wimalaratna S. Primary diffuse leptomeningeal atypicalteratoid/rhabdoid tumour in an adolescent. Clin NeurolNeurosurg. 2013;115(10):2170-3. doi: 10.1016/j.clineuro.2013.05.036. Epub 2013 Jun 29. PMID: 23820330.

  9. Tomomasa R, Nakata S, Nobusawa S, Horiguchi K, MatsumuraN, Ikota H, Hirato J, Yoshimoto Y, Yokoo H. Primarydiffuse leptomeningeal atypical teratoid/rhabdoid tumordiagnosed by cerebrospinal fluid cytology: case report withmolecular genetic analysis. Hum Pathol. 2018;77:116-120.doi: 10.1016/j.humpath.2017.12.026. Epub 2018 Jan 12.PMID: 29339179.

  10. Kayo A, Yogi A, Hamada S, Nakanishi K, Kinjo S, Sugawara K,Ishiuchi S, Nishie A. Primary diffuse leptomeningeal atypicalteratoid rhabdoid tumor (AT/RT) demonstrating atypicalimaging findings in an adolescent patient. Radiol Case Rep.2021;17(3):485-488. doi: 10.1016/j.radcr.2021.11.026.PMID: 34950279; PMCID: PMC8671802.

  11. Cocito C, Martin B, Giantini-Larsen AM, Valcarce-AspegrenM, Souweidane MM, Szalontay L, Dahmane N, GreenfieldJP. Leptomeningeal dissemination in pediatricbrain tumors. Neoplasia. 2023;39:100898. doi: 10.1016/j.neo.2023.100898. Epub 2023 Apr 1. PMID: 37011459;PMCID: PMC10124141.

  12. River, Y., Schwartz, A., Gomori, J. M., Soffer, D., & Siegal,T. Clinical significance of diffuse dural enhancementdetected by magnetic resonance imaging. Journal of neurosurgery.1996;85(5):777-783. https://doi.org/10.3171/jns.1996.85.5.0777

  13. Saltijeral, S. N., Grosu, H. B., De La Garza, H., O'Brien, B., &Iliescu, G. Leptomeningeal Enhancement due to NeurosarcoidosisMimicking Malignancy. Case reports in medicine,2020:9513576. https://doi.org/10.1155/2020/9513576

  14. Kang, A., Antonelou, M., Wong, N. L., Tanna, A., Arulkumaran,N., Tam, F. W. K., & Pusey, C. D. High Incidence ofArterial and Venous Thrombosis in Antineutrophil CytoplasmicAntibody-associated Vasculitis. The Journal of rheumatology.2019;46(3):285-293. https://doi.org/10.3899/jrheum.170896

  15. Gökden, N., Nappi, O., Swanson, P. E., Pfeifer, J. D.,Vollmer, R. T., Wick, M. R., & Humphrey, P. A. Renal cellcarcinoma with rhabdoid features. The American journalof surgical pathology.2000;24(10):1329-1338. https://doi.org/10.1097/00000478-200010000-00002

  16. Soto-Castillo, J. J., Llavata-Marti, L., Fort-Culillas, R., Andreu-Cobo, P., Moreno, R., Codony, C., García Del Muro, X., Alemany,R., Piulats, J. M., & Martin-Liberal, J. SWI/SNF Complex Alterationsin Tumors with Rhabdoid Features: Novel TherapeuticApproaches and Opportunities for Adoptive Cell Therapy. Internationaljournal of molecular sciences. 2023;24(13):11143.https://doi.org/10.3390/ijms241311143

  17. Pawel B. R. SMARCB1-deficient Tumors of Childhood: APractical Guide. Pediatric and developmental pathology:the official journal of the Society for Pediatric Pathologyand the Paediatric Pathology Society. 2018;21(1):6-28.https://doi.org/10.1177/1093526617749671

  18. Judkins, A. R., Mauger, J., Ht, A., Rorke, L. B., & Biegel,J. A. Immunohistochemical analysis of hSNF5/INI1 inpediatric CNS neoplasms. The American journal ofsurgical pathology. 2004;28(5):644-650. https://doi.org/10.1097/00000478-200405000-00013

  19. Sigauke, E., Rakheja, D., Maddox, D. L., Hladik, C. L., White,C. L., Timmons, C. F., & Raisanen, J. Absence of expressionof SMARCB1/INI1 in malignant rhabdoid tumors of thecentral nervous system, kidneys and soft tissue: an immunohistochemicalstudy with implications for diagnosis.Modern pathology: an official journal of the United Statesand Canadian Academy of Pathology, Inc.2006; 19(5):717-725. https://doi.org/10.1038/modpathol.3800581

  20. Hasselblatt, M., Nagel, I., Oyen, F., Bartelheim, K., Russell,R. B., Schüller, U., Junckerstorff, R., Rosenblum, M., Alassiri,A. H., Rossi, S., Schmid, I., Gottardo, N. G., Toledano, H.,Viscardi, E., Balbin, M., Witkowski, L., Lu, Q., Betts, M. J.,Foulkes, W. D., Siebert, R., … Schneppenheim, R. SMARCA4-mutated atypical teratoid/rhabdoid tumors are associatedwith inherited germline alterations and poor prognosis.Acta neuropathologica. 2014;128(3):453-456. https://doi.org/10.1007/s00401-014-1323-x

  21. Ho, B., Johann, P. D., Grabovska, Y., De Dieu Andrianteranagna,M. J., Yao, F., Frühwald, M., Hasselblatt, M., Bourdeaut,F., Williamson, D., Huang, A., & Kool, M. Molecular subgroupingof atypical teratoid/rhabdoid tumors-a reinvestigationand current consensus. Neuro-oncology. 2020;22(5):613-624. https://doi.org/10.1093/neuonc/noz235

  22. Johann, P. D., Erkek, S., Zapatka, M., Kerl, K., Buchhalter,I., Hovestadt, V., Jones, D. T. W., Sturm, D., Hermann, C.,Segura Wang, M., Korshunov, A., Rhyzova, M., Gröbner, S.,Brabetz, S., Chavez, L., Bens, S., Gröschel, S., Kratochwil,F., Wittmann, A., Sieber, L., … Kool, M. Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three EpigeneticSubgroups with Distinct Enhancer Landscapes. Cancercell. 2016; 29(3):379-393. https://doi.org/10.1016/j.ccell.2016.02.001

  23. Frühwald, M. C., Hasselblatt, M., Nemes, K., Bens, S.,Steinbügl, M., Johann, P. D., Kerl, K., Hauser, P., Quiroga, E.,Solano-Paez, P., Biassoni, V., Gil-da-Costa, M. J., Perek-Polnik,M., van de Wetering, M., Sumerauer, D., Pears, J., Stabell, N.,Holm, S., Hengartner, H., Gerber, N. U.,Graf, N. Age and DNAmethylation subgroup as potential independent risk factorsfor treatment stratification in children with atypical teratoid/rhabdoid tumors. Neuro-oncology. 2020; 22(7): 1006-1017.https://doi.org/10.1093/neuonc/noz244

  24. Fossey, M., Li, H., Afzal, S., Carret, A. S., Eisenstat, D. D.,Fleming, A., Hukin, J., Hawkins, C., Jabado, N., Johnston,D., Brown, T., Larouche, V., Scheinemann, K., Strother, D.,Wilson, B., Zelcer, S., Huang, A., Bouffet, E., & Lafay-Cousin,L. Atypical teratoid rhabdoid tumor in the first year of life:the Canadian ATRT registry experience and review of theliterature. Journal of neuro-oncology. 2017;132(1): 155-162. https://doi.org/10.1007/s11060-016-2353-0

  25. Johann, P. D., Bens, S., Oyen, F., Wagener, R., Giannini, C.,Perry, A., Raisanen, J. M., Reis, G. F., Nobusawa, S., Arita,K., Felsberg, J., Reifenberger, G., Agaimy, A., Buslei, R.,Capper, D., Pfister, S. M., Schneppenheim, R., Siebert, R.,Frühwald, M. C., Paulus, W., … Hasselblatt, M. Sellar RegionAtypical Teratoid/Rhabdoid Tumors (ATRT) in Adults DisplayDNA Methylation Profiles of the ATRT-MYC Subgroup. TheAmerican journal of surgical pathology. 2018;42(4):506-511. https://doi.org/10.1097/PAS.0000000000001023

  26. de León-Bojorge B, Rueda-Franco F, Anaya-Jara M. Centralnervous system atypical teratoid rhabdoid tumor:experience at the National Institute of Pediatrics, MexicoCity. Childs Nerv Syst. 2008;24(3):307-12. doi: 10.1007/s00381-007-0464-9. Epub 2007 Sep 18. PMID: 17876589.

  27. David A. Margolin, Charles B. Whitlow. The Pathogenesisand Etiology of Colonic Volvulus. Seminars in Colon andRectal Surgery. Volume 18, Issue 1, 2007. Pages 79-86. ISSN1043-1489. https://doi.org/10.1053/j.scrs.2006.12.013.

  28. Sonnenberg, A., Tsou, V. T., & Müller, A. D. The "institutionalcolon": a frequent colonic dysmotility in psychiatric andneurologic disease. The American journal of gastroenterology.1994;89(1):62-66.

  29. Fenton-Lee, D., Yeo, B. W., Jones, R. F., & Engel, S.Colonic volvulus in the spinal cord injured patient. Paraplegia.1993;31(6):393-397. https://doi.org/10.1038/sc.1993.65

  30. Warnes, H., Lehmann, H. E., & Ban, T. A. Adynamic ileusduring psychoactive medication: a report of three fatal andfive severe cases. Canadian Medical Association journal.1967; 96(15):1112-1113.




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