Erdheim-Chester disease: a rare histiocytosis with outstanding response to cobimetinib
Introduction: Erdheim-Chester Disease (ECD) is a rare form of histiocytosis, characterized by xanthogranulomatous infiltration of multiple organs by lipid-laden histiocytes. It is considered a myeloid inflammatory clonal disorder that mainly affects men with a mean age of 55 years. Methods: We pres...
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| Autores principales: | , , , , , |
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| Formato: | Artículo revista |
| Lenguaje: | Español |
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Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2021
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| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/30852 |
| Aporte de: |
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I10-R10-article-30852 |
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Universidad Nacional de Córdoba |
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Revistas de la UNC |
| language |
Español |
| format |
Artículo revista |
| topic |
diabetes insipidus hypophysitis histiocytosis diabetes insípida hipofisitis histiocitosis diabetes insípido hipofisite histiocitose |
| spellingShingle |
diabetes insipidus hypophysitis histiocytosis diabetes insípida hipofisitis histiocitosis diabetes insípido hipofisite histiocitose Sosa, Gabriela Alejandra Dogliani, Patricia Guidi, Andrés Emilio Marangoni, Marco Antonio Lavarda, Marcelo Fainstein-Day, Patricia Erdheim-Chester disease: a rare histiocytosis with outstanding response to cobimetinib |
| topic_facet |
diabetes insipidus hypophysitis histiocytosis diabetes insípida hipofisitis histiocitosis diabetes insípido hipofisite histiocitose |
| author |
Sosa, Gabriela Alejandra Dogliani, Patricia Guidi, Andrés Emilio Marangoni, Marco Antonio Lavarda, Marcelo Fainstein-Day, Patricia |
| author_facet |
Sosa, Gabriela Alejandra Dogliani, Patricia Guidi, Andrés Emilio Marangoni, Marco Antonio Lavarda, Marcelo Fainstein-Day, Patricia |
| author_sort |
Sosa, Gabriela Alejandra |
| title |
Erdheim-Chester disease: a rare histiocytosis with outstanding response to cobimetinib |
| title_short |
Erdheim-Chester disease: a rare histiocytosis with outstanding response to cobimetinib |
| title_full |
Erdheim-Chester disease: a rare histiocytosis with outstanding response to cobimetinib |
| title_fullStr |
Erdheim-Chester disease: a rare histiocytosis with outstanding response to cobimetinib |
| title_full_unstemmed |
Erdheim-Chester disease: a rare histiocytosis with outstanding response to cobimetinib |
| title_sort |
erdheim-chester disease: a rare histiocytosis with outstanding response to cobimetinib |
| description |
Introduction: Erdheim-Chester Disease (ECD) is a rare form of histiocytosis, characterized by xanthogranulomatous infiltration of multiple organs by lipid-laden histiocytes. It is considered a myeloid inflammatory clonal disorder that mainly affects men with a mean age of 55 years.
Methods: We present the case of a 65-year-old man who consulted our Endocrinology Unit because of polyuria and polydipsia of 4 months of evolution, diagnosing central diabetes insipidus associated with pituitary infiltration. Physical examination showed skin lesions he has had for several years, that were papules-nodules in the anterior chest and xantelasma-like in the face and neck, with biopsy compatible with non-Langerhans histiocytosis. The genetic study of the skin biopsy showed the presence of a mutation in MAP2K1, confirming the ECD.
Results: The patient started treatment with interferon alfa, but the response was incomplete and associated with severe intolerance, so given the findings of the genetic study, we decided to indicate treatment with cobimetinib, a potent and selective inhibitor of MEK. After 8 months of treatment, skin lesions have disappeared, as has the pituitary infiltration, with a remarkable improvement in his quality of life.
Conclusions: We present a 65-year-old patient with a rare form of histiocytosis (ECD) who in turn presented an atypical form of ECD and, where the genetic study allowed us to confirm the diagnosis and use targeted therapy with cobimetinib with outstanding results. |
| publisher |
Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología |
| publishDate |
2021 |
| url |
https://revistas.unc.edu.ar/index.php/med/article/view/30852 |
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I10-R10-article-308522021-12-29T20:14:46Z Erdheim-Chester disease: a rare histiocytosis with outstanding response to cobimetinib Enfermedad de Erdheim-Chester: una rara histiocitosis con excelente respuesta a cobimetinib Doença de Erdheim-Chester: uma histiocitose rara com notável resposta ao cobimetinib Sosa, Gabriela Alejandra Dogliani, Patricia Guidi, Andrés Emilio Marangoni, Marco Antonio Lavarda, Marcelo Fainstein-Day, Patricia diabetes insipidus hypophysitis histiocytosis diabetes insípida hipofisitis histiocitosis diabetes insípido hipofisite histiocitose Introduction: Erdheim-Chester Disease (ECD) is a rare form of histiocytosis, characterized by xanthogranulomatous infiltration of multiple organs by lipid-laden histiocytes. It is considered a myeloid inflammatory clonal disorder that mainly affects men with a mean age of 55 years. Methods: We present the case of a 65-year-old man who consulted our Endocrinology Unit because of polyuria and polydipsia of 4 months of evolution, diagnosing central diabetes insipidus associated with pituitary infiltration. Physical examination showed skin lesions he has had for several years, that were papules-nodules in the anterior chest and xantelasma-like in the face and neck, with biopsy compatible with non-Langerhans histiocytosis. The genetic study of the skin biopsy showed the presence of a mutation in MAP2K1, confirming the ECD. Results: The patient started treatment with interferon alfa, but the response was incomplete and associated with severe intolerance, so given the findings of the genetic study, we decided to indicate treatment with cobimetinib, a potent and selective inhibitor of MEK. After 8 months of treatment, skin lesions have disappeared, as has the pituitary infiltration, with a remarkable improvement in his quality of life. Conclusions: We present a 65-year-old patient with a rare form of histiocytosis (ECD) who in turn presented an atypical form of ECD and, where the genetic study allowed us to confirm the diagnosis and use targeted therapy with cobimetinib with outstanding results. Introducción: La Enfermedad de Erdheim-Chester (ECD) es una rara forma de histiocitosis, caracterizada por la infiltración xantogranulomatosa de múltiples órganos por histiocitos cargados de lípidos. Se la considera un trastorno clonal inflamatorio mieloide que afecta principalmente a hombres con una edad media de 55 años. Métodos: Presentamos el caso de un hombre de 65 años que consultó a nuestro Servicio de Endocrinología por poliuria y polidipsia de 4 meses de evolución diagnosticándose diabetes insípida central asociada a infiltración hipofisaria. El paciente presentaba lesiones cutáneas pápulo-nodulares en tórax y xantelasma-símiles en cuello y cara de varios años de evolución, con biopsia compatible con histiocitosis no-Langerhans. El estudio genético de la biopsia cutánea detectó la mutación MAP2K1 confirmando la ECD. Resultados: El paciente inició tratamiento con interferón alfa con respuesta incompleta y mala tolerancia por lo que cambiamos el tratamiento a un inhibidor potente y selectivo de MEK, el cobimetinib. Tras 8 meses de tratamiento presenta desaparición de lesiones cutáneas y de la infiltración hipofisaria con notable mejoría de su calidad de vida. Conclusión: Presentamos el caso de un paciente adulto con una forma rara de histiocitosis (ECD) que a su vez presentó una forma atípica de ECD y, donde el estudio genético nos permitió confirmar el diagnóstico e introducir una terapia dirigida con cobimetinib con excelentes resultados. Introdução: a doença de Erdheim-Chester (ECD) é uma forma rara de histiocitose, caracterizada por infiltração xantogranulomatosa de múltiplos órgãos por histiócitos carregados de lipídios. É considerada uma doença clonal inflamatória mieloide que afeta principalmente homens com idade média de 55 anos. Métodos: apresentamos o caso de um homem de 65 anos que procurou o Serviço de Endocrinologia por poliúria e polidipsia com 4 meses de evolução, com diagnóstico de diabetes insípido central associado a infiltração hipofisária. O paciente apresentava há vários anos lesões cutâneas pápulo-nodulares no tórax e xantelasma-símiles no pescoço e na face, com biópsia compatível com histiocitose não Langerhans. O estudo genético da biópsia de pele detectou a mutação MAP2K1 confirmando o ECD. Resultados: o paciente iniciou tratamento com interferon alfa com resposta incompleta e baixa tolerância, então mudamos o tratamento para um inibidor de MEK potente e seletivo, o cobimetinib. Após 8 meses de tratamento, apresentou desaparecimento das lesões cutâneas e infiltrado hipofisário com notável melhora na qualidade de vida. Conclusão: apresentamos um paciente de 65 anos com uma forma atípica de doença rara, onde o estudo genético nos permitiu não apenas confirmar o diagnóstico, mas também introduzir uma terapia direcionada com cobimetinib com excelentes resultados. Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2021-12-28 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion text/html application/pdf https://revistas.unc.edu.ar/index.php/med/article/view/30852 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 78 No. 4 (2021); 398-401 Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 78 Núm. 4 (2021); 398-401 Revista da Faculdade de Ciências Médicas de Córdoba; v. 78 n. 4 (2021); 398-401 1853-0605 0014-6722 10.31053/1853.0605.v78.n4 spa https://revistas.unc.edu.ar/index.php/med/article/view/30852/36420 https://revistas.unc.edu.ar/index.php/med/article/view/30852/36705 Derechos de autor 2021 Universidad Nacional de Córdoba http://creativecommons.org/licenses/by-nc/4.0 |