Kaposiform lymphangiomatosis effectively treated with MEK inhibition

• Published in: EMBO molecular medicine Vol. 12; no. 10; pp. e12324 - n/a
• Main Authors: Foster, Jessica B, Li, Dong, March, Michael E, Sheppard, Sarah E, Adams, Denise M, Hakonarson, Hakon, Dori, Yoav
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 07-10-2020; EMBO Press; John Wiley and Sons Inc; Springer Nature
• Subjects: CBL proto‐oncogene; Dyspnea; Edema; EMBO46; Female; Histology; Humans; kaposiform lymphangiomatosis; Leukemia; Lung diseases; Lungs; lymphatic abnormality; Lymphatic system; Lymphoma; MAP kinase signaling system; Mediastinum; Mitogen-Activated Protein Kinase Kinases; Mutation; Patients; Point mutation; Proto-Oncogene Mas; Targeted cancer therapy; trametinib; trametinib; CBL proto‐oncogene; kaposiform lymphangiomatosis; lymphatic abnormality; MAP kinase signaling system; CBL proto-oncogene
• ISSN: 1757-4676; 1757-4684
• DOI: 10.15252/emmm.202012324

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.
Synopsis
Report of a patient with the rare lymphatic anomaly, Kaposiform lymphangiomatosis (KLA). CBL proto‐oncogene mutation was identified and she was successfully treated by targeting the MAP kinase pathway.
Identification of CBL mutation driving KLA.
Patient successfully treated with MEK inhibition.
Graphical Abstract
Report of a patient with the rare lymphatic anomaly, Kaposiform lymphangiomatosis (KLA). CBL proto‐oncogene mutation was identified and she was successfully treated by targeting the MAP kinase pathway.