First report of successful pregnancies after treatment with alpelisib for PIK3CA-related overgrowth spectrum

Alpelisib is a selective PI3Kα inhibitor approved for treating PIK3CA-related overgrowth spectrum (PROS), a group of rare malformation disorders. Given that PI3Kα is a ubiquitous protein involved in cell proliferation, understanding the long-term impact of alpelisib on fertility is of critical importance. Here, we report the favorable outcomes of three pregnancies in PROS patients after prolonged treatment with alpelisib. Although disease progression was observed in all three patients during pregnancy, vascular malformations remained sensitive to alpelisib without evidence of secondary resistance upon resuming treatment. In conclusion, we provide the first evidence that alpelisib does not appear to affect fertility in female patients with PROS.

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Publication Details

Journal
European Journal of Human Genetics
Published
2025-06-06
DOI
https://doi.org/10.1038/s41431-025-01885-y
Citations
4
Primary Topic
Vascular Malformations and Hemangiomas
Type
article
Field-Weighted Citation Impact
8.03
Controls
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article

First report of successful pregnancies after treatment with alpelisib for PIK3CA-related overgrowth spectrum

Patrick Villarèse, Caroline Chopinet, Antoine Fraissenon, G Morin et al.
4 citations
European Journal of Human Genetics
Vascular Malformations and Hemangiomas
8.03
article

First report of successful pregnancies after treatment with alpelisib for PIK3CA-related overgrowth spectrum

Patrick Villarèse, Caroline Chopinet, Antoine Fraissenon, G Morin, Laurent Guibaud, Vahid Asnafi, Estelle Balducci, Sophie Kaltenbach, Guillaume Canaud
article en
4 citations

Abstract

Alpelisib is a selective PI3Kα inhibitor approved for treating PIK3CA-related overgrowth spectrum (PROS), a group of rare malformation disorders. Given that PI3Kα is a ubiquitous protein involved in cell proliferation, understanding the long-term impact of alpelisib on fertility is of critical importance. Here, we report the favorable outcomes of three pregnancies in PROS patients after prolonged treatment with alpelisib. Although disease progression was observed in all three patients during pregnancy, vascular malformations remained sensitive to alpelisib without evidence of secondary resistance upon resuming treatment. In conclusion, we provide the first evidence that alpelisib does not appear to affect fertility in female patients with PROS.

European Journal of Human GeneticsVol. 33(8)
Hôpital Necker-Enfants Malades (FR), Inserm (FR), Université Paris Cité (FR), Centre Hospitalier Universitaire de Lille (FR), Hôpital Femme Mère Enfant (FR), Institut Necker Enfants Malades (FR), Lille’s Cardiology Hospital (FR), Sorbonne Paris Cité (FR), Assistance Publique – Hôpitaux de Paris (FR), Hospices Civils de Lyon (FR), Hôpital Nord (FR), Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (FR)
Good health and well-being
Openalex Percentile: Top 3%
Vascular Malformations and Hemangiomas
8.03
DOIOpen Access PDFOpenAlex
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First report of successful pregnancies after treatment with alpelisib for PIK3CA-related overgrowth spectrum — Patrick Villarèse, Caroline Chopinet, et al. · European Journal of Human Genetics (2025) | TGRS Research Map | TGRS