Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease

Erdheim-Chester disease (ECD) is a rare histiocytic disorder that is challenging to diagnose and treat. We performed molecular analysis of BRAF in the largest cohort of ECD patients studied to date followed by N/KRAS, PIK3CA, and AKT1 mutational analysis in BRAF wild-type patients. Forty-six of 80 (...

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Veröffentlicht in:	Blood 2014-11, Vol.124 (19), p.3016-3019
Hauptverfasser:	Emile, Jean-François, Diamond, Eli L., Hélias-Rodzewicz, Zofia, Cohen-Aubart, Fleur, Charlotte, Frédéric, Hyman, David M., Kim, Eunhee, Rampal, Raajit, Patel, Minal, Ganzel, Chezi, Aumann, Shlomzion, Faucher, Gladwys, Le Gall, Catherine, Leroy, Karen, Colombat, Magali, Kahn, Jean-Emmanuel, Trad, Salim, Nizard, Philippe, Donadieu, Jean, Taly, Valérie, Amoura, Zahir, Abdel-Wahab, Omar, Haroche, Julien
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Aged, 80 and over Brief Report Class I Phosphatidylinositol 3-Kinases Erdheim-Chester Disease - genetics Erdheim-Chester Disease - metabolism Female GTP Phosphohydrolases - genetics GTP Phosphohydrolases - metabolism Histiocytes - metabolism Human health and pathology Humans Life Sciences Male MAP Kinase Signaling System - genetics Membrane Proteins - genetics Membrane Proteins - metabolism Middle Aged Myeloid Neoplasia Phosphatidylinositol 3-Kinases - genetics Phosphatidylinositol 3-Kinases - metabolism Point Mutation Proto-Oncogene Proteins - genetics Proto-Oncogene Proteins - metabolism Proto-Oncogene Proteins c-akt - genetics Proto-Oncogene Proteins c-akt - metabolism Proto-Oncogene Proteins p21(ras) ras Proteins - genetics ras Proteins - metabolism Recurrence
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