Buscar

Estamos realizando la búsqueda. Por favor, espere...

 Detalle_Publicacion

Erdheim-Chester disease due to a novel internal duplication of NRAS: response to targeted therapy with cobimetinib

Abstract: Histiocytoses encompass a group of exceptionally rare disorders characterized by the abnormal infiltration of tissues by histocytes. Among these, Erdheim-Chester disease (ECD) stands out as a multisystem histiocytosis that typically affects bones and various other tissues. Historically, the treatment of ECD has been challenging. However, recent breakthroughs in our understanding, particularly the discovery of somatic mutations in the RAS-MAPK pathway, have opened new opportunities for targeted therapy in a significant subset of patients with ECD and other histiocytoses. In this report, we present the case of a patient with ECD harboring a previously unidentified microduplication in the NRAS gene in a small fraction of skin cells. This discovery played a pivotal role in tailoring an effective therapeutic approach involving kinase inhibitors downstream of NRAS. This case underscores the crucial role of deep sequencing of tissue samples in ECD, enabling the delivery of personalized targeted therapy to patients.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Autoría: Riancho J.A., Hernández J.L., González-Vela C., López-Sundh A.E., González-Lopez M.A., Gomez de la Fuente F., Quirce R., Diamond E.L.,

 Fuente: International Journal of Molecular Sciences, 2023, 24, 15467

Editorial: MDPI

 Año de publicación: 2023

Nº de páginas: 10

Tipo de publicación: Artículo de Revista

 DOI: 10.3390/ijms242015467

ISSN: 1661-6596,1422-0067

Autoría

LÓPEZ-SUNDH, ANA E.

FRANCISO JAVIER GÓMEZ DE LA FUENTE

DIAMOND, ELI L.