Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-10-01

AUTHORS

Victoria E. R. Parker, Kim M. Keppler-Noreuil, Laurence Faivre, Maxime Luu, Neal L. Oden, Leena De Silva, Julie C. Sapp, Katrina Andrews, Marc Bardou, Kong Y. Chen, Thomas N. Darling, Elodie Gautier, Barry R. Goldspiel, Smail Hadj-Rabia, Julie Harris, Georgios Kounidas, Parag Kumar, Marjorie J. Lindhurst, Romaric Loffroy, Ludovic Martin, Alice Phan, Kristina I. Rother, Brigitte C. Widemann, Pamela L. Wolters, Christine Coubes, Lucile Pinson, Marjolaine Willems, Catherine Vincent-Delorme, Pierre Vabres, Robert K. Semple, Leslie G. Biesecker

ABSTRACT

PURPOSE: PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants. PIK3CA encodes the p110α catalytic subunit of phosphatidylinositol-3-kinase (PI3K), a critical transducer of growth factor signaling. As mTOR mediates the growth-promoting actions of PI3K, we hypothesized that the mTOR inhibitor sirolimus would slow pathological overgrowth. METHODS: Thirty-nine participants with PROS and progressive overgrowth were enrolled into open-label studies across three centers, and results were pooled. For the primary outcome, tissue volumes at affected and unaffected sites were measured by dual energy X-ray absorptiometry during 26 weeks of untreated run-in and 26 weeks of sirolimus therapy. RESULTS: Thirty participants completed the study. Sirolimus led to a change in mean percentage total tissue volume of -7.2% (SD 16.0, p = 0.04) at affected sites, but not at unaffected sites (+1.7%, SD 11.5, p = 0.48) (n = 23 evaluable). Twenty-eight of 39 (72%) participants had ≥1 adverse event related to sirolimus of which 37% were grade 3 or 4 in severity and 7/39 (18%) participants were withdrawn consequently. CONCLUSION: This study suggests that low-dose sirolimus can modestly reduce overgrowth, but cautions that the side-effect profile is significant, mandating individualized risk-benefit evaluations for sirolimus treatment in PROS. More... »

PAGES

1-10

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41436-018-0297-9

DOI

http://dx.doi.org/10.1038/s41436-018-0297-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1107263113

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30270358


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