KRAS-driven model of Gorham-Stout disease effectively treated with trametinib

Autor: Nassim Homayun-Sepehr, Anna L. McCarter, Raphaël Helaers, Christine Galant, Laurence M. Boon, Pascal Brouillard, Miikka Vikkula, Michael T. Dellinger

Publikováno v: JCI Insight, Vol 6, Iss 15 (2021)

Gorham-Stout disease (GSD) is a sporadically occurring lymphatic disorder. Patients with GSD develop ectopic lymphatics in bone, gradually lose bone, and can have life-threatening complications, such as chylothorax. The etiology of GSD is poorly unde

Externí odkaz: https://doaj.org/article/daf96aceec344bbdab8af7aa33bd468c

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

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

Publikováno v: Orphanet journal of rare diseases, Vol. 16, no. 1, p. 267 (2021)
Orphanet journal of rare diseases, 16 (1
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

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 s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::515c0ab3566af06088aae0db4545c39d
https://trepo.tuni.fi/handle/10024/133227