Tumor teratoide rabdoide atípico en un adulto joven.

Velandia, Fernando; Cardona, Andrés Felipe; Ortiz, León Darío; García, Alfredo; Bermúdez, Sonia; Flórez, Adriana; Mejía, Marcela; Useche, Nicolás; Hakim, Fernando; Castro, Christian; Quintero, Carlos Andrés

doi:10.51643/22562915.323

Tumor teratoide rabdoide atípico en un adulto joven.

Se presenta el caso de un hombre de 28 años con pérdida progresiva de la agudeza visual y cefalea asociada a polidipsia, poliuria e hipersomnia. La resonancia magnética cerebral mostró una masa heterogénea localizada a nivel selar/supraselar con realce intenso después de la administración del contraste. Se realizó una resección parcial con patología que evidenció una lesión tumoral de apariencia rabdoide con pérdida de la expresión del INI-1. Estos hallazgos fueron compatibles con un tumor teratoide/rabdoide atípico tratado con teleterapia y el esquema de quimioterapia ICE con adecuada respuesta. Se discute el resultado después de cinco meses de tratamiento en espera de la administración de quimioterapia con intensidad de dosis más rescate... Ver más

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Revista Colombiana de Hematología y Oncología

ISSN

2256-2877

EISSN

2256-2915

Autores

Velandia, Fernando

Cardona, Andrés Felipe

Quintero, Carlos Andrés

Editor

ASOCIACION COLOMBIANA DE HEMATOLOGIA Y ONCOLOGIA

DOI

10.51643/22562915.323

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Año de publicación

2012-12-01

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Palabras claves

tumor teratoide/rabdoide atípico

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patología molecular

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Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0.

Carlos Andrés Quintero - 2012

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spelling	Tumor teratoide rabdoide atípico en un adulto joven. Raisanen J, Biegel JA, Hatanpaa KJ, Judkins A, White CL, Perry A. Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. Brain Pathol. 2005;15(1):23-8. Oruetxebarria I, Venturini F, Kekarainen T, Houweling A, Zuijderduijn LM, Mohd-Sarip A, et al. P16INK4a is required for hSNF5 chromatin remodeler-induced cellular senescence in malignant rhabdoid tumor cells. J Biol Chem. 2004;279(5):3807-16. Roberts C, Biegel J. The role of SMARCB1/INI1 in the development of rhabdoid tumors. Cancer Biology & Therapy. 2009;8(5):412-6. Meyers SP, Khademian ZP, Biegel JA, Chuang SH, Korones DN, Zimmerman RA. Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes. AJNR Am J Neuroradiol. 2006;27(5):962-71. Kuge A, Kayama T, Tsuchiya D, Kawakami K, Saito S, Nakazato Y, et al. Suprasellar primary malignant rhabdoid tumor in an adult: a case report. No Shinkei Geka. 2000;28(4):351-8. Schneiderhan TM, Beseoglu K, Bergmann M, Neubauer U, Macht S, Hänggi D, et al. Sellar atypical teratoid/rhabdoid tumours in adults. Neuropathol Appl Neurobiol. 2011;37(3):326-9. Las Heras F, Pritzker KP. Adult variant of atypical teratoid/rhabdoid tumor: immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica. Pathol Res Pract. 2010;206(11):788-91. Arita K, Sugiyama K, Sano T, Oka H. Atypical teratoid/rhabdoid tumour in sella turcica in an adult. Acta Neurochir (Wien). 2008;150(5):491-6. Bikowska B, Grajkowska W, Jóźwiak J. Atypical teratoid/rhabdoid tumor: short clinical description and insight into possible mechanism of the disease. Eur J Neurol. 2011;18(6):813-8. Arcaro A, Doepfner KT, Boller D, Guerreiro AS, Shalaby T, Jackson SP, et al. Novel role for insulin as an autocrine growth factor for malignant brain tumour cells. Biochem J. 2007;406(1):57-66. Shonka NA, Armstrong TS, Prabhu SS, Childress A, Choi S, Langford LA, et al. Atypical teratoid/rhabdoid tumors in adults: a case report and treatment-focused review. J Clin Med Res. 2011;3(2):85-92. Packer RJ, Biegel JA, Blaney S, Finlay J, Geyer JR, Heideman R, et al. Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshop. J Pediatr Hematol Oncol. 2002;24(5):337-42. Samaras V, Stamatelli A, Samaras E, Stergiou I, Konstantopoulou P, Varsos V, et al. Atypical teratoid/rhabdoid tumor of the central nervous system in an 18-year-old patient. Clinical Neuropathol. 2009;28(1):1-10. Ginn KF, Gajjar A. Atypical teratoid rhabdoid tumor: current therapy and future directions. Front Oncol. 2012;2:114. Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, Burger PC, Jouvet A, et al. The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol. 2007;114(5):547. Rorke LB, Packer RJ, Biegel JA. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurgery. 1996;85(1):56-65. Montgomery P, Kuhn JP, Berger PE. Rhabdoid tumor of the kidney: a case report. Urol Radiol. 1985;7(1):42-4. Beckwith JB, Palmer NF. Histopathology and prognosis of Wilms tumor: results from the First National Wilms’ Tumor Study. Cancer. 1978;41(5):1937-48. Eberhart CG. Molecular diagnostics in embryonal brain tumors. Brain Pathol. 2011;21(1):96-104. Lee S, Cimica V, Ramachandra N, Zagzag D, Kalpana GV. Aurora A is a repressed effector target of the chromatin remodeling protein INI1/hSNF5 required for rhabdoid tumor cell survival. Cancer Res. 2011;71(9):3225-35. https://creativecommons.org/licenses/by-nc-sa/4.0 Swensen JJ, Keyser J, Coffin CM, Biegel JA, Viskochil DH, Williams MS. Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. J Med Genet. 2009;46(1):68-72. Text http://purl.org/coar/access_right/c_abf2 info:eu-repo/semantics/openAccess http://purl.org/coar/version/c_970fb48d4fbd8a85 info:eu-repo/semantics/publishedVersion http://purl.org/redcol/resource_type/ARTREF http://purl.org/coar/resource_type/c_6501 info:eu-repo/semantics/article Sukumari-Ramesh S, Singh N, Dhandapani KM, Vender JR. mTOR inhibition reduces cellular proliferation and sensitizes pituitary adenoma cells to ionizing radiation. Surg Neurol Int. 2011;2:22. Crane R, Gadea B, Littlepage L, Wu H, Ruderman JV. Aurora A, meiosis and mitosis. Biol Cell. 2004;96(3):215-29. Prasad G, Sottero T, Yang X, Mueller S, James CD, Weiss WA, et al. Inhibition of PI3K/mTOR pathways in glioblastoma and implications for combination therapy with temozolomide. Neuro Oncol. 2011;13(4):384-92. Ronellenfitsch M, Steinbach JP, Wick W. Epidermal growth factor receptor and mammalian target of rapamycin as therapeutic targets in malignant glioma: current clinical status and perspectives. Targ Oncol. 2010;5(3):183-91. Jung M, Kozikowski A, Dritschilo A. Rational design and development of radiation-sensitizing histone deacetylase inhibitors. Chem Biodivers. 2005;2(11):1452-61. Xu WS, Parmigiani RB, Marks PA. Histone deacetylase inhibitors: molecular mechanisms of action. Oncogene. 2007;26(37):5541-52. Furchert SE, Lanvers-Kaminsky C, Juürgens H, Jung M, Loidl A, Frühwald MC. Inhibitors of histone deacetylases as potential therapeutic tools for high-risk embryonal tumors of the nervous system of childhood. Int J Cancer. 2007;120(8):1787-94. Chi SN, Zimmerman MA, Yao X, Cohen KJ, Burger P, Biegel JA, et al. Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol. 2009;27(3):385-9. Knipstein JA, Birks DK, Donson AM, Alimova I, Foreman NK, Vibhakar R. Histone deacetylase inhibition decreases proliferation and potentiates the effect of ionizing radiation in atypical teratoid/rhabdoid tumor cells. Neuro Oncol. 2012;14(2):175-83. Hilden JM, Meerbaum S, Burger P, Finlay J, Janss A, Scheithauer BW, et al. Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. J Clin Oncol. 2004;22(14):2877-84. Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0. Carlos Andrés Quintero - 2012 Español Velandia, Fernando radioterapia quimioterapia adulto tumor teratoide/rabdoide atípico Cardona, Andrés Felipe Ortiz, León Darío García, Alfredo Bermúdez, Sonia trasplante Flórez, Adriana Mejía, Marcela Useche, Nicolás Hakim, Fernando Castro, Christian Quintero, Carlos Andrés Se presenta el caso de un hombre de 28 años con pérdida progresiva de la agudeza visual y cefalea asociada a polidipsia, poliuria e hipersomnia. La resonancia magnética cerebral mostró una masa heterogénea localizada a nivel selar/supraselar con realce intenso después de la administración del contraste. Se realizó una resección parcial con patología que evidenció una lesión tumoral de apariencia rabdoide con pérdida de la expresión del INI-1. Estos hallazgos fueron compatibles con un tumor teratoide/rabdoide atípico tratado con teleterapia y el esquema de quimioterapia ICE con adecuada respuesta. Se discute el resultado después de cinco meses de tratamiento en espera de la administración de quimioterapia con intensidad de dosis más rescate con progenitores obtenidos de sangre periférica. También se presenta una revisión de los datos referentes al manejo de esta neoplasia, al igual que de los mecanismos moleculares implicados en su fisiopatología. patología molecular Publication application/pdf https://revista.acho.info/index.php/acho/article/view/323 Revista Colombiana de Hematología y Oncología 1 4 Núm. 4 , Año 2012 : Diciembre Artículo de revista Asociación Colombiana de Hematología y Oncología (ACHO) molecular pathology The case of a 28-year-old man is presented; he was suffering from a progressive loss of visual acuity and headache associated with polydipsia, polyuria and hypersomnia. Brain magnetic resonance spectroscopy revealed a heterogeneous mass located in the sellar/suprasellar areas having intense enhancement after contrast. A partial resection was made, pathology revealing a rhabdoid tumoral lesion accompanied by loss of INI-1 expression. Such findings were compatible with an atypical teratoid/ rhabdoid tumour which was then treated with teletherapy and ICE chemotherapy which led to a suitable response. The result following five months’ treatment pending the administration of dose-intensity chemotherapy plus peripheral-blood progenitor cells (PBPC) as hematopoietic rescue is discussed. A review of the pertinent data regarding managing this neoplasia is also presented, along with the molecular mechanisms implicated in its physiopathology. transplant Journal article atypical teratoid/rhabdoid tumor Atypical teratoid rhabdoid tumor in an adult patient. radiation chemotherapy 2012-12-01T00:00:00Z 2012-12-01 2012-12-01T00:00:00Z https://revista.acho.info/index.php/acho/article/download/323/290 2256-2877 2256-2915 10.51643/22562915.323 47 41 https://doi.org/10.51643/22562915.323
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 teratoide rabdoide atípico en un adulto joven.
spellingShingle	Tumor teratoide rabdoide atípico en un adulto joven. Velandia, Fernando Cardona, Andrés Felipe Ortiz, León Darío García, Alfredo Bermúdez, Sonia Flórez, Adriana Mejía, Marcela Useche, Nicolás Hakim, Fernando Castro, Christian Quintero, Carlos Andrés radioterapia quimioterapia adulto tumor teratoide/rabdoide atípico trasplante patología molecular molecular pathology transplant atypical teratoid/rhabdoid tumor radiation chemotherapy
title_short	Tumor teratoide rabdoide atípico en un adulto joven.
title_full	Tumor teratoide rabdoide atípico en un adulto joven.
title_fullStr	Tumor teratoide rabdoide atípico en un adulto joven.
title_full_unstemmed	Tumor teratoide rabdoide atípico en un adulto joven.
title_sort	tumor teratoide rabdoide atípico en un adulto joven.
title_eng	Atypical teratoid rhabdoid tumor in an adult patient.
description	Se presenta el caso de un hombre de 28 años con pérdida progresiva de la agudeza visual y cefalea asociada a polidipsia, poliuria e hipersomnia. La resonancia magnética cerebral mostró una masa heterogénea localizada a nivel selar/supraselar con realce intenso después de la administración del contraste. Se realizó una resección parcial con patología que evidenció una lesión tumoral de apariencia rabdoide con pérdida de la expresión del INI-1. Estos hallazgos fueron compatibles con un tumor teratoide/rabdoide atípico tratado con teleterapia y el esquema de quimioterapia ICE con adecuada respuesta. Se discute el resultado después de cinco meses de tratamiento en espera de la administración de quimioterapia con intensidad de dosis más rescate con progenitores obtenidos de sangre periférica. También se presenta una revisión de los datos referentes al manejo de esta neoplasia, al igual que de los mecanismos moleculares implicados en su fisiopatología.
description_eng	The case of a 28-year-old man is presented; he was suffering from a progressive loss of visual acuity and headache associated with polydipsia, polyuria and hypersomnia. Brain magnetic resonance spectroscopy revealed a heterogeneous mass located in the sellar/suprasellar areas having intense enhancement after contrast. A partial resection was made, pathology revealing a rhabdoid tumoral lesion accompanied by loss of INI-1 expression. Such findings were compatible with an atypical teratoid/ rhabdoid tumour which was then treated with teletherapy and ICE chemotherapy which led to a suitable response. The result following five months’ treatment pending the administration of dose-intensity chemotherapy plus peripheral-blood progenitor cells (PBPC) as hematopoietic rescue is discussed. A review of the pertinent data regarding managing this neoplasia is also presented, along with the molecular mechanisms implicated in its physiopathology.
author	Velandia, Fernando Cardona, Andrés Felipe Ortiz, León Darío García, Alfredo Bermúdez, Sonia Flórez, Adriana Mejía, Marcela Useche, Nicolás Hakim, Fernando Castro, Christian Quintero, Carlos Andrés
author_facet	Velandia, Fernando Cardona, Andrés Felipe Ortiz, León Darío García, Alfredo Bermúdez, Sonia Flórez, Adriana Mejía, Marcela Useche, Nicolás Hakim, Fernando Castro, Christian Quintero, Carlos Andrés
topicspa_str_mv	radioterapia quimioterapia adulto tumor teratoide/rabdoide atípico trasplante patología molecular
topic	radioterapia quimioterapia adulto tumor teratoide/rabdoide atípico trasplante patología molecular molecular pathology transplant atypical teratoid/rhabdoid tumor radiation chemotherapy
topic_facet	radioterapia quimioterapia adulto tumor teratoide/rabdoide atípico trasplante patología molecular molecular pathology transplant atypical teratoid/rhabdoid tumor radiation chemotherapy
citationvolume	1
citationissue	4
citationedition	Núm. 4 , Año 2012 : 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/323
language	Español
format	Article
rights	https://creativecommons.org/licenses/by-nc-sa/4.0 http://purl.org/coar/access_right/c_abf2 info:eu-repo/semantics/openAccess Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0. Carlos Andrés Quintero - 2012
references	Raisanen J, Biegel JA, Hatanpaa KJ, Judkins A, White CL, Perry A. Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. Brain Pathol. 2005;15(1):23-8. Oruetxebarria I, Venturini F, Kekarainen T, Houweling A, Zuijderduijn LM, Mohd-Sarip A, et al. P16INK4a is required for hSNF5 chromatin remodeler-induced cellular senescence in malignant rhabdoid tumor cells. J Biol Chem. 2004;279(5):3807-16. Roberts C, Biegel J. The role of SMARCB1/INI1 in the development of rhabdoid tumors. Cancer Biology & Therapy. 2009;8(5):412-6. Meyers SP, Khademian ZP, Biegel JA, Chuang SH, Korones DN, Zimmerman RA. Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes. AJNR Am J Neuroradiol. 2006;27(5):962-71. Kuge A, Kayama T, Tsuchiya D, Kawakami K, Saito S, Nakazato Y, et al. Suprasellar primary malignant rhabdoid tumor in an adult: a case report. No Shinkei Geka. 2000;28(4):351-8. Schneiderhan TM, Beseoglu K, Bergmann M, Neubauer U, Macht S, Hänggi D, et al. Sellar atypical teratoid/rhabdoid tumours in adults. Neuropathol Appl Neurobiol. 2011;37(3):326-9. Las Heras F, Pritzker KP. Adult variant of atypical teratoid/rhabdoid tumor: immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica. Pathol Res Pract. 2010;206(11):788-91. Arita K, Sugiyama K, Sano T, Oka H. Atypical teratoid/rhabdoid tumour in sella turcica in an adult. Acta Neurochir (Wien). 2008;150(5):491-6. Bikowska B, Grajkowska W, Jóźwiak J. Atypical teratoid/rhabdoid tumor: short clinical description and insight into possible mechanism of the disease. Eur J Neurol. 2011;18(6):813-8. Arcaro A, Doepfner KT, Boller D, Guerreiro AS, Shalaby T, Jackson SP, et al. Novel role for insulin as an autocrine growth factor for malignant brain tumour cells. Biochem J. 2007;406(1):57-66. Shonka NA, Armstrong TS, Prabhu SS, Childress A, Choi S, Langford LA, et al. Atypical teratoid/rhabdoid tumors in adults: a case report and treatment-focused review. J Clin Med Res. 2011;3(2):85-92. Packer RJ, Biegel JA, Blaney S, Finlay J, Geyer JR, Heideman R, et al. Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshop. J Pediatr Hematol Oncol. 2002;24(5):337-42. Samaras V, Stamatelli A, Samaras E, Stergiou I, Konstantopoulou P, Varsos V, et al. Atypical teratoid/rhabdoid tumor of the central nervous system in an 18-year-old patient. Clinical Neuropathol. 2009;28(1):1-10. Ginn KF, Gajjar A. Atypical teratoid rhabdoid tumor: current therapy and future directions. Front Oncol. 2012;2:114. Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, Burger PC, Jouvet A, et al. The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol. 2007;114(5):547. Rorke LB, Packer RJ, Biegel JA. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurgery. 1996;85(1):56-65. Montgomery P, Kuhn JP, Berger PE. Rhabdoid tumor of the kidney: a case report. Urol Radiol. 1985;7(1):42-4. Beckwith JB, Palmer NF. Histopathology and prognosis of Wilms tumor: results from the First National Wilms’ Tumor Study. Cancer. 1978;41(5):1937-48. Eberhart CG. Molecular diagnostics in embryonal brain tumors. Brain Pathol. 2011;21(1):96-104. Lee S, Cimica V, Ramachandra N, Zagzag D, Kalpana GV. Aurora A is a repressed effector target of the chromatin remodeling protein INI1/hSNF5 required for rhabdoid tumor cell survival. Cancer Res. 2011;71(9):3225-35. Swensen JJ, Keyser J, Coffin CM, Biegel JA, Viskochil DH, Williams MS. Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. J Med Genet. 2009;46(1):68-72. Sukumari-Ramesh S, Singh N, Dhandapani KM, Vender JR. mTOR inhibition reduces cellular proliferation and sensitizes pituitary adenoma cells to ionizing radiation. Surg Neurol Int. 2011;2:22. Crane R, Gadea B, Littlepage L, Wu H, Ruderman JV. Aurora A, meiosis and mitosis. Biol Cell. 2004;96(3):215-29. Prasad G, Sottero T, Yang X, Mueller S, James CD, Weiss WA, et al. Inhibition of PI3K/mTOR pathways in glioblastoma and implications for combination therapy with temozolomide. Neuro Oncol. 2011;13(4):384-92. Ronellenfitsch M, Steinbach JP, Wick W. Epidermal growth factor receptor and mammalian target of rapamycin as therapeutic targets in malignant glioma: current clinical status and perspectives. Targ Oncol. 2010;5(3):183-91. Jung M, Kozikowski A, Dritschilo A. Rational design and development of radiation-sensitizing histone deacetylase inhibitors. Chem Biodivers. 2005;2(11):1452-61. Xu WS, Parmigiani RB, Marks PA. Histone deacetylase inhibitors: molecular mechanisms of action. Oncogene. 2007;26(37):5541-52. Furchert SE, Lanvers-Kaminsky C, Juürgens H, Jung M, Loidl A, Frühwald MC. Inhibitors of histone deacetylases as potential therapeutic tools for high-risk embryonal tumors of the nervous system of childhood. Int J Cancer. 2007;120(8):1787-94. Chi SN, Zimmerman MA, Yao X, Cohen KJ, Burger P, Biegel JA, et al. Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol. 2009;27(3):385-9. Knipstein JA, Birks DK, Donson AM, Alimova I, Foreman NK, Vibhakar R. Histone deacetylase inhibition decreases proliferation and potentiates the effect of ionizing radiation in atypical teratoid/rhabdoid tumor cells. Neuro Oncol. 2012;14(2):175-83. Hilden JM, Meerbaum S, Burger P, Finlay J, Janss A, Scheithauer BW, et al. Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. J Clin Oncol. 2004;22(14):2877-84.
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Tumor teratoide rabdoide atípico en un adulto joven.

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