Effects of MEK-inhibitor treatment in infants with lymphatic abnormalities in noonan syndrome - Takeaways - MDSpire

Effects of MEK-inhibitor treatment in infants with lymphatic abnormalities in noonan syndrome

  • By

  • J. Wagenpfeil

  • K. Hoß

  • A. Henkel

  • D. L. Kütting

  • J. A. Luetkens

  • A. Mueller

  • C. C. Pieper

  • A. Groteklaes

  • July 15, 2026

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  • 1

    Noonan syndrome is a genetic disorder linked to RAS/MAPK pathway dysregulation, often resulting in significant lymphatic abnormalities.

  • 2

    Infants with Noonan syndrome frequently experience severe lymphatic complications, including chylous effusions and respiratory issues.

  • 3

    Trametinib, a MEK inhibitor, was administered to six infants with Noonan syndrome and refractory lymphatic abnormalities for one year.

  • 4

    After one year of Trametinib therapy, all patients showed clinical improvement, with decreased pleural effusions and no need for chest drainage.

  • 5

    Despite clinical improvements, MR lymphangiography indicated limited remodeling of the central lymphatic system without normalization of anatomy or flow.

Original Source(s)

Effects of MEK-inhibitor treatment in infants with lymphatic abnormalities in noonan syndrome

  • by J. Wagenpfeil, K. Hoß, A. Henkel, D. L. Kütting, J. A. Luetkens, A. Mueller, C. C. Pieper, A. Groteklaes

  • July 15, 2026

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