The study for etiology of lymphangiomatosis

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K10023
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Gifu University
• Principal Investigator: Michio Ozeki 岐阜大学, 医学部附属病院, 講師 (60444303)
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: 血管腫 / リンパ管腫

Outline of Final Research Achievements

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.

Free Research Field

小児血液腫瘍

Academic Significance and Societal Importance of the Research Achievements

本研究では希少難治性疾患であるリンパ管腫症の病態解明のため、サイトカイン、および遺伝子解析を行った。こうした研究は過去にほとんど行われておらず、さらに重要な結果が出たため、国際誌に報告した。これらは病態解明から、さらに新たな治療法の開発にも繋がる可能性があり、社会的意義は高い。