Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis
| العنوان: | Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis |
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| المؤلفون: | Csaba Bödör, Béla E. Tóth, Judit Csomor, Sarolta Kárpáti, József Tímár, Norbert Kiss, Judit Hársing, Erzsébet Rásó |
| المصدر: | Virchows Archiv |
| بيانات النشر: | Springer Science and Business Media LLC, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, Neuroblastoma RAS viral oncogene homolog, Pathology, MAP Kinase Kinase 1, GTP Phosphohydrolases, Exon, 0302 clinical medicine, Mutation Rate, Langerhans cell histiocytosis, MAP2K1, Mutation frequency, Indeterminate Cell Histiocytosis, Brief Report, Incidence (epidemiology), KIT, General Medicine, Middle Aged, Prognosis, Proto-Oncogene Proteins c-kit, Phenotype, 030220 oncology & carcinogenesis, Female, Adult, Proto-Oncogene Proteins B-raf, medicine.medical_specialty, Adolescent, NRAS, Skin Diseases, BRAF, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, Molecular Biology, Aged, business.industry, Wild type, Infant, Membrane Proteins, Cell Biology, medicine.disease, Histiocytosis, Langerhans-Cell, 030104 developmental biology, Mutation, business |
| الوصف: | Langerhans cell histiocytosis (LCH) is characterized by mutations of the RAS-RAF-MAPK signaling pathway. We analyzed MAP2K1, NRAS and KIT mutation incidence in skin lesions of BRAF wild-type (wt) LCH patients. We evaluated the occurrence of MAP2K1, NRAS and KIT mutations in seven LCH and one indeterminate cell histiocytosis (ICH) patients. MAP2K1 mutation frequency was found to be 3/7 (42.9%) in LCH and also found in ICH. Similarly, the KIT mutation frequency was found to be equally prevalent (4/7, 57.1%) in LCH and also occurred in ICH. Involvement of KIT exons in LCH-ICH indicated that exon 9/11/18 were equally prevalent followed by exon 13. This exploratory analysis on BRAF-wt LCH revealed a KIT mutation rate comparable to MAP2K1. Although the detected KIT mutations are different from activating mutations found in other KIT-dependent neoplasms, our data suggest that KIT-inhibitors might have a role in treating BRAF-wt LCH patients. |
| تدمد: | 1432-2307 0945-6317 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11d83b66be36767835e9967802a7377eTest https://doi.org/10.1007/s00428-020-02820-wTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....11d83b66be36767835e9967802a7377e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14322307 09456317 |
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