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<p>Heterozygous activating variants in platelet-derived growth factor receptor beta (PDGFRβ) are associated with ultra-rare and clinically heterogeneous conditions, including KOGS (Kosaki Overgrowth Syndrome), PS (Penttinen Syndrome) and related conditons. Tyrosine kinase inhibitors (TKIs), which are widely used in hematological and oncological diseases, are now being explored as potential treatments for these conditions. While four published cases have reported encouraging results, there is still insufficient data available to draw definitive conclusions on the benefit–risk ratio. The international consortium Knowing and Treating KOGS/PS was launched to assess the real-life outcomes of such treatments. The consortium presents four new cases and updates four previously published cases of KOGS/PS treated with TKIs from seven countries. A recent publication was also included in the analysis. Individuals received treatment for between three and a half months and eight years (imatinib <i>N</i> = 8/8, dasatinib <i>N</i> = 3/8, sunitinib <i>N</i> = 1/8), with a mean duration of 44.4 months (SD = 29.8). The age at treatment initiation ranged from 6 to 57 years (six patients treated in childhood and two in adulthood). All individuals showed improvement within weeks/months, with minimal side effects. However, efficacy decreased over time in some cases, prompting a switch to a different TKI. These preliminary findings highlight the potential of TKIs for managing KOGS/PS patients. Standardized follow-up protocols and an electronic Case Report Form (eCRF) have been implemented to enhance monitoring and data collection, enabling systematic comparisons between treated and untreated individuals despite the disorders’ rarity.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月8日

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  • Céline Jost,
  • Alessandro Mussa,
  • Jean-Emmanuel Kurtz,
  • Ashmika Gokhul,
  • Ann Nordgren,
  • Silvia Kalantari,
  • Diana Carli,
  • Andrea Gazzin,
  • Claudio Isella,
  • Enzo Medico,
  • Anna Cassisa,
  • Daniela Cantarella,
  • Thirona Naicker,
  • Antoinette Chateau,
  • Jean-Baptiste Demoulin,
  • Nikolas Herold,
  • Yordi-Michaël Bouhatous,
  • Liubinka Mirakovska,
  • Agnès Maurer,
  • Théo Gaumet,
  • Tara Wenger,
  • Helena Iznardo,
  • Eulalia Baselga,
  • José Manuel Mascaro,
  • Cécilie Bredrup,
  • Olav Aga Kildal,
  • Titas Gladkauskas,
  • Cecilie F. Rustad,
  • Ingrid Voktor Svinvik,
  • Dinel Pond,
  • Elise Schaefer,
  • Maxime Luu,
  • Marc Bardou,
  • Laurence Faivre

摘要

Heterozygous activating variants in platelet-derived growth factor receptor beta (PDGFRβ) are associated with ultra-rare and clinically heterogeneous conditions, including KOGS (Kosaki Overgrowth Syndrome), PS (Penttinen Syndrome) and related conditons. Tyrosine kinase inhibitors (TKIs), which are widely used in hematological and oncological diseases, are now being explored as potential treatments for these conditions. While four published cases have reported encouraging results, there is still insufficient data available to draw definitive conclusions on the benefit–risk ratio. The international consortium Knowing and Treating KOGS/PS was launched to assess the real-life outcomes of such treatments. The consortium presents four new cases and updates four previously published cases of KOGS/PS treated with TKIs from seven countries. A recent publication was also included in the analysis. Individuals received treatment for between three and a half months and eight years (imatinib N = 8/8, dasatinib N = 3/8, sunitinib N = 1/8), with a mean duration of 44.4 months (SD = 29.8). The age at treatment initiation ranged from 6 to 57 years (six patients treated in childhood and two in adulthood). All individuals showed improvement within weeks/months, with minimal side effects. However, efficacy decreased over time in some cases, prompting a switch to a different TKI. These preliminary findings highlight the potential of TKIs for managing KOGS/PS patients. Standardized follow-up protocols and an electronic Case Report Form (eCRF) have been implemented to enhance monitoring and data collection, enabling systematic comparisons between treated and untreated individuals despite the disorders’ rarity.