Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.
Céline Jost, Alessandro Mussa, Jean-Emmanuel Kurtz et al.
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Case in brief
This report discusses four new cases of Kosaki Overgrowth Syndrome and Penttinen Syndrome treated with tyrosine kinase inhibitors (TKIs). Patients, aged 6 to 57 years, showed significant improvement within weeks to months of starting treatment, which included imatinib, dasatinib, and sunitinib. However, some experienced decreased efficacy over time, necessitating a switch to alternative TKIs. Minimal side effects were noted.
Diagnostic / clinical pearl
Clinicians should consider the potential benefits of tyrosine kinase inhibitors in managing Kosaki and Penttinen syndromes, particularly in patients showing early improvement.
Why it matters
The findings underscore the need for standardized follow-up protocols to better assess the long-term efficacy and safety of TKIs in these ultra-rare syndromes.