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DC Field | Value | Language |
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dc.citation.endPage | 3019 | - |
dc.citation.number | 19 | - |
dc.citation.startPage | 3016 | - |
dc.citation.title | BLOOD | - |
dc.citation.volume | 124 | - |
dc.contributor.author | Emile, Jean-Francois | - |
dc.contributor.author | Diamond, Eli L. | - |
dc.contributor.author | Helias-Rodzewicz, Zofia | - |
dc.contributor.author | Cohen-Aubart, Fleur | - |
dc.contributor.author | Charlotte, Frederic | - |
dc.contributor.author | Hyman, David M. | - |
dc.contributor.author | Kim, Eunhee | - |
dc.contributor.author | Rampal, Raajit | - |
dc.contributor.author | Patel, Minal | - |
dc.contributor.author | Ganzel, Chezi | - |
dc.contributor.author | Aumann, Shlomzion | - |
dc.contributor.author | Faucher, Gladwys | - |
dc.contributor.author | Le Gall, Catherine | - |
dc.contributor.author | Leroy, Karen | - |
dc.contributor.author | Colombat, Magali | - |
dc.contributor.author | Kahn, Jean-Emmanuel | - |
dc.contributor.author | Trad, Salim | - |
dc.contributor.author | Nizard, Philippe | - |
dc.contributor.author | Donadieu, Jean | - |
dc.contributor.author | Taly, Valerie | - |
dc.contributor.author | Amoura, Zahir | - |
dc.contributor.author | Abdel-Wahab, Omar | - |
dc.contributor.author | Haroche, Julien | - |
dc.date.accessioned | 2023-12-22T02:06:42Z | - |
dc.date.available | 2023-12-22T02:06:42Z | - |
dc.date.created | 2016-08-02 | - |
dc.date.issued | 2014-11 | - |
dc.description.abstract | 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 (57.5%) of patients were BRAFV600E-mutant. NRAS mutations were detected in 3 of 17 ECD BRAFV600E wild-type patients. PIK3CA mutations (p.E542K, p.E545K, p.A1046T, and p.H1047R) were detected in 7 of 55 patients, 4 of whom also had BRAF mutations. Mutant NRAS was present in peripheral blood CD14(+) cells, but not lymphoid cells, from an NRASQ61R mutant patient. Our results underscore the central role of RAS-RAF-MEK-ERK activation in ECD and identify an important role of activation of RAS-PI3K-AKT signaling in ECD. These results provide a rationale for targeting mutant RAS or PI3K/AKT/mTOR signaling in the subset of ECD patients with NRAS or PIK3CA mutations | - |
dc.identifier.bibliographicCitation | BLOOD, v.124, no.19, pp.3016 - 3019 | - |
dc.identifier.doi | 10.1182/blood-2014-04-570937 | - |
dc.identifier.issn | 0006-4971 | - |
dc.identifier.scopusid | 2-s2.0-84909643356 | - |
dc.identifier.uri | https://scholarworks.unist.ac.kr/handle/201301/20164 | - |
dc.identifier.url | http://www.bloodjournal.org/content/124/19/3016?sso-checked=true | - |
dc.identifier.wosid | 000347461200019 | - |
dc.publisher | NW SUITE 200 | - |
dc.title | Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease | - |
dc.type | Article | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
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