Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

Heterozygous activating PDGFRB variants targeted by tyrosine kinase inhibitors

Heterozygous activating PDGFRB variants cause ultra-rare conditions including Kosaki overgrowth (KOGS) and Penttinen syndromes. The international Knowing and Treating KOGS/PS consortium reports four new cases and updates four published cases treated with tyrosine kinase inhibitors (imatinib 8/8, dasatinib 3/8, sunitinib 1/8) across seven countries, mean duration 44.4 months. All individuals improved within weeks to months with minimal side effects, though waning efficacy sometimes prompted a switch of TKI. These preliminary data support TKI potential and standardized follow-up.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

A valuable series in ultra-rare diseases, suggesting tangible therapeutic benefit of TKIs in PDGFRB-related overgrowth. The absence of a control group and small numbers warrant caution, hence the value of the proposed prospective eCRF. A fine example of precision genomic medicine guiding an available targeted therapy.

Analysis by Dr Thibaut Benquey