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Research paper

PIK3CA-Related Overgrowth Spectrum (PROS) — GeneReviews

Clinical practice guidelines (Douzgou 2022) for PROS; FDA-approved targeted therapy (alpelisib / Vijoice) exists; seizure types vary with mosaic tissue distribution; specific surveillance recommendations for tissue-distribution-dependent manifestations.

Indexed context

Keppler-Noreuil KM, et al.

pik3caprosgenereviewstargeted-therapy

Markdown path

content/research/papers/2022-keppler-noreuil-pik3ca-genereviews.md

Findings

Clinical practice guidelines (Douzgou 2022) for PROS; FDA-approved targeted therapy (alpelisib / Vijoice) exists; seizure types vary with mosaic tissue distribution; specific surveillance recommendations for tissue-distribution-dependent manifestations.

Why it may matter for Levi

Sets the management framework if a PIK3CA variant is found in Levi; informs what downstream subspecialty care and surveillance look like. Provides basis for the skin/retinal exam diagnostic item (surveillance) and for the conditional mTOR/targeted-therapy treatment item.

Paper text

PIK3CA-Related Overgrowth Spectrum (PROS) — GeneReviews

Keppler-Noreuil KM, et al. — GeneReviews / NCBI Bookshelf (2022). https://www.ncbi.nlm.nih.gov/books/NBK153722/

Findings summary

Clinical practice guidelines (Douzgou 2022) for PROS; FDA-approved targeted therapy (alpelisib / Vijoice) exists; seizure types vary with mosaic tissue distribution; specific surveillance recommendations for tissue-distribution-dependent manifestations.

Relevance to Levi

Sets the management framework if a PIK3CA variant is found in Levi; informs what downstream subspecialty care and surveillance look like. Provides basis for the skin/retinal exam diagnostic item (surveillance) and for the conditional mTOR/targeted-therapy treatment item.

Provenance

  • Ingested 2026-04-16 as part of the batch literature pass supporting the Root Cause Theories, diagnostics, and treatments workspaces.
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  • Companion memo: content/research/notes/2026-04-16-literature-pass.md