@article{10902/31017,
year = {2023},
url = {https://hdl.handle.net/10902/31017},
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.},
organization = {Funding: This work was supported by National Institutes of Health/National Cancer Institute grant P30 CA008748, and National Cancer Institute grant R37CA259260 (E.L.D. and K.S.P.). This work was also supported by the Frame Family Fund (E.L.D.), the Joy Family West Foundation (E.L.D.), the Applebaum Foundation (E.L.D.), and the Erdheim-Chester Disease Global Alliance (E.L.D.).
Acknowledgments: The grammar and style of this manuscript were checked with ChatGPT (GPT-3.5), available at https://chat.openai.com/, accessed on 8 September 2023.},
publisher = {MDPI},
publisher = {International Journal of Molecular Sciences, 2023, 24, 15467},
title = {Erdheim-Chester disease due to a novel internal duplication of NRAS: response to targeted therapy with cobimetinib},
author = {Riancho Moral, José Antonio and Hernández Hernández, José Luis and González Vela, María del Carmen and López-Sundh, Ana E. and González López, Marcos Antonio and Gómez de la Fuente, Francisco Javier and Quirce Pisano, María Remedios and Diamond, Eli L.},
}