Titulo:
Tumor teratoide rabdoide atípico en un adulto joven.
.
Sumario:
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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Carlos Andrés Quintero - 2012
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Tumor teratoide rabdoide atípico en un adulto joven. Atypical teratoid rhabdoid tumor in an adult patient. 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. 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. Quintero, Carlos Andrés Castro, Christian Hakim, Fernando Useche, Nicolás Mejía, Marcela Flórez, Adriana Bermúdez, Sonia Velandia, Fernando García, Alfredo Ortiz, León Darío Cardona, Andrés Felipe tumor teratoide/rabdoide atípico adulto quimioterapia radioterapia patología molecular trasplante atypical teratoid/rhabdoid tumor chemotherapy radiation molecular pathology transplant 1 4 Núm. 4 , Año 2012 : Diciembre Artículo de revista Journal article 2012-12-01T00:00:00Z 2012-12-01T00:00:00Z 2012-12-01 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/323 10.51643/22562915.323 https://doi.org/10.51643/22562915.323 spa https://creativecommons.org/licenses/by-nc-sa/4.0 Carlos Andrés Quintero - 2012 Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0. 41 47 Beckwith JB, Palmer NF. Histopathology and prognosis of Wilms tumor: results from the First National Wilms’ Tumor Study. Cancer. 1978;41(5):1937-48. Montgomery P, Kuhn JP, Berger PE. Rhabdoid tumor of the kidney: a case report. Urol Radiol. 1985;7(1):42-4. 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. 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. Ginn KF, Gajjar A. Atypical teratoid rhabdoid tumor: current therapy and future directions. Front Oncol. 2012;2:114. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. Roberts C, Biegel J. The role of SMARCB1/INI1 in the development of rhabdoid tumors. Cancer Biology & Therapy. 2009;8(5):412-6. 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. Eberhart CG. Molecular diagnostics in embryonal brain tumors. Brain Pathol. 2011;21(1):96-104. 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. 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. Crane R, Gadea B, Littlepage L, Wu H, Ruderman JV. Aurora A, meiosis and mitosis. Biol Cell. 2004;96(3):215-29. 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. 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. 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. 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. Xu WS, Parmigiani RB, Marks PA. Histone deacetylase inhibitors: molecular mechanisms of action. Oncogene. 2007;26(37):5541-52. Jung M, Kozikowski A, Dritschilo A. Rational design and development of radiation-sensitizing histone deacetylase inhibitors. Chem Biodivers. 2005;2(11):1452-61. 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. 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. 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. 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. https://revista.acho.info/index.php/acho/article/download/323/290 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 |
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ASOCIACION COLOMBIANA DE HEMATOLOGIA Y ONCOLOGIA |
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https://nuevo.metarevistas.org/ASOCIACIONCOLOMBIANADEHEMATOLOGIAYONCOLOGIA/logo.png |
| country_str |
Colombia |
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Revista Colombiana de Hematología y Oncología |
| title |
Tumor teratoide rabdoide atípico en un adulto joven. |
| spellingShingle |
Tumor teratoide rabdoide atípico en un adulto joven. Quintero, Carlos Andrés Castro, Christian Hakim, Fernando Useche, Nicolás Mejía, Marcela Flórez, Adriana Bermúdez, Sonia Velandia, Fernando García, Alfredo Ortiz, León Darío Cardona, Andrés Felipe tumor teratoide/rabdoide atípico adulto quimioterapia radioterapia patología molecular trasplante atypical teratoid/rhabdoid tumor chemotherapy radiation molecular pathology transplant |
| 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 |
Quintero, Carlos Andrés Castro, Christian Hakim, Fernando Useche, Nicolás Mejía, Marcela Flórez, Adriana Bermúdez, Sonia Velandia, Fernando García, Alfredo Ortiz, León Darío Cardona, Andrés Felipe |
| author_facet |
Quintero, Carlos Andrés Castro, Christian Hakim, Fernando Useche, Nicolás Mejía, Marcela Flórez, Adriana Bermúdez, Sonia Velandia, Fernando García, Alfredo Ortiz, León Darío Cardona, Andrés Felipe |
| topicspa_str_mv |
tumor teratoide/rabdoide atípico adulto quimioterapia radioterapia patología molecular trasplante |
| topic |
tumor teratoide/rabdoide atípico adulto quimioterapia radioterapia patología molecular trasplante atypical teratoid/rhabdoid tumor chemotherapy radiation molecular pathology transplant |
| topic_facet |
tumor teratoide/rabdoide atípico adulto quimioterapia radioterapia patología molecular trasplante atypical teratoid/rhabdoid tumor chemotherapy radiation molecular pathology transplant |
| 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 |
spa |
| format |
Article |
| rights |
https://creativecommons.org/licenses/by-nc-sa/4.0 Carlos Andrés Quintero - 2012 Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0. info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2 |
| references |
Beckwith JB, Palmer NF. Histopathology and prognosis of Wilms tumor: results from the First National Wilms’ Tumor Study. Cancer. 1978;41(5):1937-48. Montgomery P, Kuhn JP, Berger PE. Rhabdoid tumor of the kidney: a case report. Urol Radiol. 1985;7(1):42-4. 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. 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. Ginn KF, Gajjar A. Atypical teratoid rhabdoid tumor: current therapy and future directions. Front Oncol. 2012;2:114. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. Roberts C, Biegel J. The role of SMARCB1/INI1 in the development of rhabdoid tumors. Cancer Biology & Therapy. 2009;8(5):412-6. 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. Eberhart CG. Molecular diagnostics in embryonal brain tumors. Brain Pathol. 2011;21(1):96-104. 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. 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. Crane R, Gadea B, Littlepage L, Wu H, Ruderman JV. Aurora A, meiosis and mitosis. Biol Cell. 2004;96(3):215-29. 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. 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. 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. 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. Xu WS, Parmigiani RB, Marks PA. Histone deacetylase inhibitors: molecular mechanisms of action. Oncogene. 2007;26(37):5541-52. Jung M, Kozikowski A, Dritschilo A. Rational design and development of radiation-sensitizing histone deacetylase inhibitors. Chem Biodivers. 2005;2(11):1452-61. 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. 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. 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. 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. |
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