A somatic activating NRAS variant associated with kaposiform lymphangiomatosis.

ABSTRACT:

Purpose

Kaposiform lymphangiomatosis (KLA) is a rare, frequently aggressive, systemic disorder of the lymphatic vasculature, occurring primarily in children. Even with multimodal treatments, KLA has a poor prognosis and high mortality rate secondary to coagulopathy, effusions, and systemic involvement. We hypothesized that, as has recently been found for other vascular anomalies, KLA may be caused by somatic mosaic variants affecting vascular development.

Methods

We performed exome sequencing of tumor samples from five individuals with KLA, along with samples from uninvolved control tissue in three of the five. We used digital polymerase chain reaction (dPCR) to validate the exome findings and to screen KLA samples from six other individuals.

Results

We identified a s

SUBMITTER: Barclay SF 

PROVIDER: S-EPMC6565516 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature