2023 Fiscal Year Final Research Report
Establishing criteria for pathological diagnosis of lymphatic malformation in anticipation of regulatory approval of the mTOR inhibitor sirolimus.
Project/Area Number |
21K15384
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Research Category |
Grant-in-Aid for Early-Career Scientists
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Allocation Type | Multi-year Fund |
Review Section |
Basic Section 49020:Human pathology-related
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Research Institution | National Hospital Organization Osaka National Hospital Institute for Clinical Reserch |
Principal Investigator |
Hirose Yumiko (堀由美子) 独立行政法人国立病院機構大阪医療センター(臨床研究センター), その他部局等, 研究員 (60528785)
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Project Period (FY) |
2021-04-01 – 2024-03-31
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Keywords | 脈管異常 / 脈管奇形 / リンパ管奇形 / リンパ管腫 / 静脈奇形 / mTOR / PIK3CA / シロリムス |
Outline of Final Research Achievements |
Patients of lymphatic malformation (LM) often suffer from functional impairment and aesthetic deformity which significantly affect the quality of life and may be life-threatening. The mammalian target of rapamycin (mTOR) inhibitor sirolimus is a new effective treatment for difficult-to-treat LMs. Preclinical trials have been conducted to test the efficacy of sirolimus in LM. However, LM pathologically resembles various vascular malformations, and are therefore often difficult to differentiate from other similar vascular malformations. The objective of this study is to establishing criteria for pathological diagnosis of LM in anticipation of regulatory approval of the sirolimus. A combined immunostaining and genetic testing gene can be useful for diagnosing LM.
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Free Research Field |
人体病理
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Academic Significance and Societal Importance of the Research Achievements |
現在は、mTOR阻害薬であるシロリムスのリンパ管奇形に対する効能が薬事承認され、保険収載されている(2021年)。各種のがん(腫瘍)において遺伝子異常に対応する分子標的薬治療が標準治療となりつつあることと同様、リンパ管奇形などの脈管系疾患においても分子標的薬治療が応用され始めている。本研究により、遺伝子背景を考慮した新たな病理学的診断基準が確立され、正しい治療方法を選択することが可能となることが期待される。
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