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Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

7 May 2023

Abstract excerpt

Central conducting lymphatic anomaly (CCLA) due to congenital maldevelopment of the lymphatics can result in debilitating and life-threatening disease with limited treatment options. We identified 4 individuals with CCLA, lymphedema, and microcystic lymphatic malformation due to pathogenic, mosaic variants in KRAS. To determine the functional impact of these variants and identify a targeted therapy for these...

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PMID: 37154160
DOI: 10.1172/jci.insight.155888

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