| Autor(en) |
Titel |
Quelle |
Links |
| Nanduri VR, Pritchard J, Levitt G, Glaser AW |
Long term morbidity and health related quality of life after multi-system Langerhans cell histiocytosis. |
European journal of cancer (Oxford, England : 1990) 2006, 42: 2563 |
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| Langerhans' cell histiocytosis, a clonal multisystem disorder, can affect children or adults resulting in long term sequelae. However, the overall morbidity for survivors has not been formally determined. |
| Nelson DS, Quispel W, Badalian-Very G, van Halteren AG, van den Bos C, Bovée JV, Tian SY, Van Hummelen P, Ducar M, MacConaill LE, Egeler RM, Rollins BJ |
Somatic activating ARAF mutations in Langerhans cell histiocytosis. |
Blood 2014 May 15; 123: 3152 |
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| The extracellular signal-regulated kinase (ERK) signaling pathway is activated in Langerhans cell histiocytosis (LCH) histiocytes, but only 60% of cases carry somatic activating mutations of BRAF. To identify other genetic causes of ERK pathway activation, we performed whole exome sequencing on purified LCH cells in 3 cases. One patient with wild-type BRAF alleles in his histiocytes had compound mutations in the kinase domain of ARAF. Unlike wild-type ARAF, this mutant was a highly active mitogen-activated protein kinase kinase in vitro and was capable of transforming mouse embryo fibroblasts. Mutant ARAF activity was inhibited by vemurafenib, a BRAF inhibitor, indicating the importance of fully evaluating ERK pathway abnormalities in selecting LCH patients for targeted inhibitor therapy. |
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