Kaposiform lymphangiomatosis effectively treated with MEK inhibition

Autor:	Jessica B Foster, Dong Li, Michael E March, Sarah E Sheppard, Denise M Adams, Hakon Hakonarson, Yoav Dori
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	CBL proto‐oncogene kaposiform lymphangiomatosis lymphatic abnormality MAP kinase signaling system trametinib Medicine (General) R5-920 Genetics QH426-470
Zdroj:	EMBO Molecular Medicine, Vol 12, Iss 10, Pp 1-6 (2020)
Druh dokumentu:	article
ISSN:	1757-4676 1757-4684
DOI:	10.15252/emmm.202012324
Popis:	Abstract Kaposiform lymphangiomatosis (KLA) is a rare lymphatic anomaly primarily affecting the mediastinum with high mortality rate. We present a patient with KLA and significant disease burden harboring a somatic point mutation in the Casitas B lineage lymphoma (CBL) gene. She was treated with MEK inhibition with complete resolution of symptoms, near‐complete resolution of lymphatic fluid burden, and remodeling of her lymphatic system. While patients with KLA have been reported to harbor mutations in NRAS, here we report for the first time a causative mutation in the CBL gene in a patient with KLA, successfully treated with Ras pathway inhibition.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/c7e586d63ea64231bfa3397727caeb93 Zobrazit plný text záznamu Plný text View record in DOAJ