The study for etiology of lymphangiomatosis
Description: Lymphatic anomalies (LAs), including generalized lymphatic anomaly and kaposiform lymphangiomatosis (KLA), are extremely rare diseases with severe symptoms and poor prognosis.It is described as an aggressive disease of the lymphatic system and has foci of “kaposiform” abnormal spindle lymphatic endothelial cells; however, the pathogenesis of the patients remains unknown.Recently, genetic research has attempted to elucidate the actual conditions and pathogenesis of vascular anomalies.We conducted the mutation analysis and experiment for elucidating the etiology of LAs.We performed multiple cytokine analysis and whole-exome sequencing of DNA samples from biopsy specimen. Our results provide the first evidence that 8 angiogenic factors are associated with KLA pathogenesis and NRAS oncogenic variant was identified in DNA samples from not only an affected lesion but also plasma and pleural effusion.
Amount: ¥4,810,000
Funding type: research
Funder scheme: Grant-in-Aid for Scientific Research (C)
Start date: 2016-04-01
End date: 2019-03-31
Investigator: Ozeki Michio
Institution: Gifu University
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Funded outputs count: 4
Funder award ID: 16K10023
OpenAlex ID: G6243545800