Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

doi:10.1186/s13023-021-01898-y

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Article

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

Orphanet journal of rare diseases - 10 Jun 2021

Brouillard Pascal, Schlögel Matthieu J, Homayun Sepehr Nassim, Helaers Raphaël, Queisser Angela, Fastré Elodie, Boutry Simon, Schmitz Sandra, Clapuyt Philippe, Hammer Frank, Dompmartin Anne, Weitz-Tuoretmaa Annamaria, Laranne Jussi, Pasquesoone Louise, Vilain Catheline, Boon Laurence M, Vikkula Miikka

Abstract excerpt

BACKGROUND: Theragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients' genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase chain reaction (ddPCR) to screen for somatic PIK3CA mutations on DNA extracted from resected lesional tissue or lymphatic endothelial cells (LECs) isolated from lesions. Our cohort (n = 143) was...

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Identifiers

PMID: 34112235
DOI: 10.1186/s13023-021-01898-y
PMCID: PMC8194016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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