Titulo:
Tumor rabdoide teratoide atípico del sistema nervioso central con INI1 positivo : presentación de un caso pediátrico.
.
Sumario:
Se presenta el caso de una paciente de 11 años de edad con diagnóstico de tumor rabdoide teratoide atípico del sistema nervioso central, con retención de la expresión del marcador INI 1, negatividad del marcador BRG1 y estudios de genética sin ninguna alteración correspondiente al cromosoma 22. Se logró una resección completa de la lesión, con posterior consolidación del tratamiento con quimioterapia y radioterapia y, a la fecha, en remisión de la enfermedad. La relevancia de este caso es la positividad del INI-1 en la inmunohistoquímica, que en el contexto de un tumor rabdoide teratoide atípico, no descarta esta entidad patológica, siendo útil la realización del marcador BRG1 para establecer el diagnó... Ver más
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Alejandra Calderón Gasca - 2020
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Tumor rabdoide teratoide atípico del sistema nervioso central con INI1 positivo : presentación de un caso pediátrico. Central nervous system atypical teratoid/ rhabdoid tumor with retained INI-1: a pediatric case Se presenta el caso de una paciente de 11 años de edad con diagnóstico de tumor rabdoide teratoide atípico del sistema nervioso central, con retención de la expresión del marcador INI 1, negatividad del marcador BRG1 y estudios de genética sin ninguna alteración correspondiente al cromosoma 22. Se logró una resección completa de la lesión, con posterior consolidación del tratamiento con quimioterapia y radioterapia y, a la fecha, en remisión de la enfermedad. La relevancia de este caso es la positividad del INI-1 en la inmunohistoquímica, que en el contexto de un tumor rabdoide teratoide atípico, no descarta esta entidad patológica, siendo útil la realización del marcador BRG1 para establecer el diagnóstico. We report a case of AT/RT in an 11 years old female, with a retained expression of INI1 by immunohistochemistry and loss of expression of BRG1 protein by immunohistochemistry. Genetic tests reveal no alteration related to chromosome 22. Complete resection of the lesion was performed, then she received chemotherapy and radiotherapy treatment. She is in remission 3 years following completion of treatment. This case shows that positivity for INI1 in immunohistochemistry, does not rule out a diagnosis of AT/RT, and additional testing, like BRG1 protein by immunohistochemistry, could be useful to establish the diagnosis. Calderón Gasca, Alejandra Paz, Kelly teratoma sistema nervioso central niño proteína SMARCB1 inmunihistoquímica INI-1 tumor rabdoide teratoma central nervous system child SMARCB1 protein immunohistochemistry INI-1 rhabdoid tumor 7 2 Núm. 2 , Año 2020 : Julio - Diciembre Artículo de revista Journal article 2020-08-01T00:00:00Z 2020-08-01T00:00:00Z 2020-08-01 application/pdf Asociación Colombiana de Hematología y Oncología (ACHO) Revista Colombiana de Hematología y Oncología 2256-2877 2256-2915 https://revista.acho.info/index.php/acho/article/view/110 10.51643/22562915.110 https://doi.org/10.51643/22562915.110 spa https://creativecommons.org/licenses/by-nc-nd/4.0 Alejandra Calderón Gasca - 2020 Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-SinDerivadas 4.0. 52 55 Tsai C, Wong T, Lee Y, Chao M, Lin S, et al. 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 [Internet]. 2012;36(1):128-33. https://doi.org/10.1097/PAS.0b013e3182348cc4. Ryzhova M, Kadyrov S, Kumirova E, Shishkina L, Nikitin P, et al. Central nervous system atypical teratoid/rhabdoid tumor without loss of nuclear expression of INI1. Arkh Patol [Internet]. 2019;81(2):36-42. https://doi.org/10.17116/patol20198102136 Bush J, Hancock B, Israels S, Ellison D, Stefanovici C, et al. Intracranial Atypical Teratoid/Rhabdoid Tumor Presenting as an Axillary Mass: A Case Report and Review of Literature. Pediatric and Developmental Pathology [Internet]. 2014;17(2):122–125. https://doi.org/10.2350/14-01-1427-CR.1 Lafay L, Hawkins C, Carret A, Johnston D, Zelcer S, et al. Central nervous system atypical teratoid rhabdoid tumours: The Canadian Paediatric Brain Tumour Consortium experience. Eur J Cancer [Internet]. 2012;48(3):353–359. https://doi.org/10.1016/j.ejca.2011.09.005 Buscariollo D, Park H, Roberts K, Yu J. Survival outcomes in atypical teratoid rhabdoid tumour for patients undergoing radiotherapy in a surveillance, epidemiology, and end results analysis. Cancer [Internet]. 2012;118(17):4212–4219. https://doi.org/10.1002/cncr.27373 Haberler C, Laggner U, Slavc I, et al. Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without rhabdoid phenotype. Am J Surg Pathol [Internet]. 2006;30(11):1462–1468. https://doi.org/10.1097/01.pas.0000213329.71745.ef Bookhout C, Bouldin T, Ellison D. Atypical teratoid/rhabdoid tumor with retained INI1 (SMARCB1) expression and loss of BRG1 (SMARCA4). Neuropathology [Internet]. 2018;38(3):305-308. https://doi.org/10.1111/neup.12452 Hasselblatt M, Nagel I, Oyen F, et al. SMARCA4 mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. Acta Neuropathol [Internet]. 2014;128(3):453–456. https://doi.org/10.1007/s00401-014-1323-x Biegel J, Tan L, Zhang F, et al. Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors. Clin Cancer Res. 2002; 8(11):3461-7. PMID: 12429635 Lee R, Stewart C, Carter S, et al.: A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. J Clin Invest [Internet]. 2012; 122(8): 2983-8. https://doi.org/10.1172/JCI64400 PDQ® sobre el tratamiento pediátrico. PDQ Tratamiento del tumor teratoideo/rabdoide atípico del sistema nervioso central infantil. Bethesda, MD: National Cancer Institute. [Internet] Actualización: 03/01/2020. Disponible en: https://www.cancer.gov/espanol/tipos/cerebro/pro/tratamiento-atrt-snc-infantil-pdf Rao S, Konar S, Shukla D, Bhat D, Beniwal M, et al. Factors Influencing Survival of Children with Atypical Teratoid/Rhabdoid Tumors: A Single-Institute Experience in a Developing Country. World Neurosurg [Internet]. 2019;129:e264-e272. https://doi.org/10.1016/j.wneu.2019.05.126 Nesvick C, Nageswara, Raghunathan A, Biegel J, Daniels D. Case-based review: atypical teratoid/rhabdoid tumor. Neuro-Oncology Practice [Internet]. 2018;6(3):163–178. https://doi.org/10.1093/nop/npy037 Meena R, Doddamani R, Chipde H, Mahajan S, Chandra S, et al. Primary spinal atypical teratoid/rhabdoid tumour presenting with hematomyelia and subarachnoid haemorrhage-a case report. Childs Nerv Syst [Internet]. 2019 Oct 29. https://doi.org/10.1007/s00381-019-04412-9. [Epub ahead of print] ChoiJ, Kang H, Hong K, Hong C, Lee Y, et al. Tandem high-dose chemotherapy with topotecan–thiotepa–carboplatin and melphalan–etoposide–carboplatin regimens for pediatric high-risk brain tumors. Int J Clin Oncol [Internet]. 2019; 24(12): 1515–1525. https://doi.org/10.1007/s10147-019-01517-8 Ishisaka E, Usami K, Kiyotani C, Terashima K, Ogiwara H. Neoadjuvant chemotherapy for atypical teratoid rhabdoid tumors (AT/RTs). Child's Nervous System [Internet]. 2020:(36):721–727. https://doi.org/10.1007/s00381-019-04422-7 Quinn T, Almahariq M, Siddiqui Z, Thompson A, Hamstra D, et al. Trimodality therapy for atypical teratoid/rhabdoid tumor is associated with improved overall survival: A surveillance, epidemiology, and end results analysis Pediatr Blood Cancer [Internet]. 2019;66(12):e27969. https://doi.org/10.1002/pbc.27969 https://revista.acho.info/index.php/acho/article/download/110/356 info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 http://purl.org/redcol/resource_type/ARTREF info:eu-repo/semantics/publishedVersion http://purl.org/coar/version/c_970fb48d4fbd8a85 info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2 Text Publication |
| institution |
ASOCIACION COLOMBIANA DE HEMATOLOGIA Y ONCOLOGIA |
| thumbnail |
https://nuevo.metarevistas.org/ASOCIACIONCOLOMBIANADEHEMATOLOGIAYONCOLOGIA/logo.png |
| country_str |
Colombia |
| collection |
Revista Colombiana de Hematología y Oncología |
| title |
Tumor rabdoide teratoide atípico del sistema nervioso central con INI1 positivo : presentación de un caso pediátrico. |
| spellingShingle |
Tumor rabdoide teratoide atípico del sistema nervioso central con INI1 positivo : presentación de un caso pediátrico. Calderón Gasca, Alejandra Paz, Kelly teratoma sistema nervioso central niño proteína SMARCB1 inmunihistoquímica INI-1 tumor rabdoide teratoma central nervous system child SMARCB1 protein immunohistochemistry INI-1 rhabdoid tumor |
| title_short |
Tumor rabdoide teratoide atípico del sistema nervioso central con INI1 positivo : presentación de un caso pediátrico. |
| title_full |
Tumor rabdoide teratoide atípico del sistema nervioso central con INI1 positivo : presentación de un caso pediátrico. |
| title_fullStr |
Tumor rabdoide teratoide atípico del sistema nervioso central con INI1 positivo : presentación de un caso pediátrico. |
| title_full_unstemmed |
Tumor rabdoide teratoide atípico del sistema nervioso central con INI1 positivo : presentación de un caso pediátrico. |
| title_sort |
tumor rabdoide teratoide atípico del sistema nervioso central con ini1 positivo : presentación de un caso pediátrico. |
| title_eng |
Central nervous system atypical teratoid/ rhabdoid tumor with retained INI-1: a pediatric case |
| description |
Se presenta el caso de una paciente de 11 años de edad con diagnóstico de tumor rabdoide teratoide atípico del sistema nervioso central, con retención de la expresión del marcador INI 1, negatividad del marcador BRG1 y estudios de genética sin ninguna alteración correspondiente al cromosoma 22. Se logró una resección completa de la lesión, con posterior consolidación del tratamiento con quimioterapia y radioterapia y, a la fecha, en remisión de la enfermedad. La relevancia de este caso es la positividad del INI-1 en la inmunohistoquímica, que en el contexto de un tumor rabdoide teratoide atípico, no descarta esta entidad patológica, siendo útil la realización del marcador BRG1 para establecer el diagnóstico.
|
| description_eng |
We report a case of AT/RT in an 11 years old female, with a retained expression of INI1 by immunohistochemistry and loss of expression of BRG1 protein by immunohistochemistry. Genetic tests reveal no alteration related to chromosome 22. Complete resection of the lesion was performed, then she received chemotherapy and radiotherapy treatment. She is in remission 3 years following completion of treatment. This case shows that positivity for INI1 in immunohistochemistry, does not rule out a diagnosis of AT/RT, and additional testing, like BRG1 protein by immunohistochemistry, could be useful to establish the diagnosis.
|
| author |
Calderón Gasca, Alejandra Paz, Kelly |
| author_facet |
Calderón Gasca, Alejandra Paz, Kelly |
| topicspa_str_mv |
teratoma sistema nervioso central niño proteína SMARCB1 inmunihistoquímica INI-1 tumor rabdoide |
| topic |
teratoma sistema nervioso central niño proteína SMARCB1 inmunihistoquímica INI-1 tumor rabdoide teratoma central nervous system child SMARCB1 protein immunohistochemistry INI-1 rhabdoid tumor |
| topic_facet |
teratoma sistema nervioso central niño proteína SMARCB1 inmunihistoquímica INI-1 tumor rabdoide teratoma central nervous system child SMARCB1 protein immunohistochemistry INI-1 rhabdoid tumor |
| citationvolume |
7 |
| citationissue |
2 |
| citationedition |
Núm. 2 , Año 2020 : Julio - Diciembre |
| publisher |
Asociación Colombiana de Hematología y Oncología (ACHO) |
| ispartofjournal |
Revista Colombiana de Hematología y Oncología |
| source |
https://revista.acho.info/index.php/acho/article/view/110 |
| language |
spa |
| format |
Article |
| rights |
https://creativecommons.org/licenses/by-nc-nd/4.0 Alejandra Calderón Gasca - 2020 Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-SinDerivadas 4.0. info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2 |
| references |
Tsai C, Wong T, Lee Y, Chao M, Lin S, et al. 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 [Internet]. 2012;36(1):128-33. https://doi.org/10.1097/PAS.0b013e3182348cc4. Ryzhova M, Kadyrov S, Kumirova E, Shishkina L, Nikitin P, et al. Central nervous system atypical teratoid/rhabdoid tumor without loss of nuclear expression of INI1. Arkh Patol [Internet]. 2019;81(2):36-42. https://doi.org/10.17116/patol20198102136 Bush J, Hancock B, Israels S, Ellison D, Stefanovici C, et al. Intracranial Atypical Teratoid/Rhabdoid Tumor Presenting as an Axillary Mass: A Case Report and Review of Literature. Pediatric and Developmental Pathology [Internet]. 2014;17(2):122–125. https://doi.org/10.2350/14-01-1427-CR.1 Lafay L, Hawkins C, Carret A, Johnston D, Zelcer S, et al. Central nervous system atypical teratoid rhabdoid tumours: The Canadian Paediatric Brain Tumour Consortium experience. Eur J Cancer [Internet]. 2012;48(3):353–359. https://doi.org/10.1016/j.ejca.2011.09.005 Buscariollo D, Park H, Roberts K, Yu J. Survival outcomes in atypical teratoid rhabdoid tumour for patients undergoing radiotherapy in a surveillance, epidemiology, and end results analysis. Cancer [Internet]. 2012;118(17):4212–4219. https://doi.org/10.1002/cncr.27373 Haberler C, Laggner U, Slavc I, et al. Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without rhabdoid phenotype. Am J Surg Pathol [Internet]. 2006;30(11):1462–1468. https://doi.org/10.1097/01.pas.0000213329.71745.ef Bookhout C, Bouldin T, Ellison D. Atypical teratoid/rhabdoid tumor with retained INI1 (SMARCB1) expression and loss of BRG1 (SMARCA4). Neuropathology [Internet]. 2018;38(3):305-308. https://doi.org/10.1111/neup.12452 Hasselblatt M, Nagel I, Oyen F, et al. SMARCA4 mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. Acta Neuropathol [Internet]. 2014;128(3):453–456. https://doi.org/10.1007/s00401-014-1323-x Biegel J, Tan L, Zhang F, et al. Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors. Clin Cancer Res. 2002; 8(11):3461-7. PMID: 12429635 Lee R, Stewart C, Carter S, et al.: A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. J Clin Invest [Internet]. 2012; 122(8): 2983-8. https://doi.org/10.1172/JCI64400 PDQ® sobre el tratamiento pediátrico. PDQ Tratamiento del tumor teratoideo/rabdoide atípico del sistema nervioso central infantil. Bethesda, MD: National Cancer Institute. [Internet] Actualización: 03/01/2020. Disponible en: https://www.cancer.gov/espanol/tipos/cerebro/pro/tratamiento-atrt-snc-infantil-pdf Rao S, Konar S, Shukla D, Bhat D, Beniwal M, et al. Factors Influencing Survival of Children with Atypical Teratoid/Rhabdoid Tumors: A Single-Institute Experience in a Developing Country. World Neurosurg [Internet]. 2019;129:e264-e272. https://doi.org/10.1016/j.wneu.2019.05.126 Nesvick C, Nageswara, Raghunathan A, Biegel J, Daniels D. Case-based review: atypical teratoid/rhabdoid tumor. Neuro-Oncology Practice [Internet]. 2018;6(3):163–178. https://doi.org/10.1093/nop/npy037 Meena R, Doddamani R, Chipde H, Mahajan S, Chandra S, et al. Primary spinal atypical teratoid/rhabdoid tumour presenting with hematomyelia and subarachnoid haemorrhage-a case report. Childs Nerv Syst [Internet]. 2019 Oct 29. https://doi.org/10.1007/s00381-019-04412-9. [Epub ahead of print] ChoiJ, Kang H, Hong K, Hong C, Lee Y, et al. Tandem high-dose chemotherapy with topotecan–thiotepa–carboplatin and melphalan–etoposide–carboplatin regimens for pediatric high-risk brain tumors. Int J Clin Oncol [Internet]. 2019; 24(12): 1515–1525. https://doi.org/10.1007/s10147-019-01517-8 Ishisaka E, Usami K, Kiyotani C, Terashima K, Ogiwara H. Neoadjuvant chemotherapy for atypical teratoid rhabdoid tumors (AT/RTs). Child's Nervous System [Internet]. 2020:(36):721–727. https://doi.org/10.1007/s00381-019-04422-7 Quinn T, Almahariq M, Siddiqui Z, Thompson A, Hamstra D, et al. Trimodality therapy for atypical teratoid/rhabdoid tumor is associated with improved overall survival: A surveillance, epidemiology, and end results analysis Pediatr Blood Cancer [Internet]. 2019;66(12):e27969. https://doi.org/10.1002/pbc.27969 |
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