Molecular analysis of BRAF V600E mutation in multiple nodules of pulmonary Langerhans cell histiocytosis
| Autor: | Martin Werner, Arno Dimmler, Gerhard Faller, Helene Geddert |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male Proto-Oncogene Proteins B-raf 0301 basic medicine Pathology medicine.medical_specialty Langerhans cell DNA Mutational Analysis Biology medicine.disease_cause Pulmonary Langerhans cell histiocytosis Polymerase Chain Reaction Sensitivity and Specificity Pathology and Forensic Medicine Pathogenesis 03 medical and health sciences 0302 clinical medicine medicine Humans neoplasms Molecular Biology Histiocyte Aged Mutation Cell Biology General Medicine Middle Aged Immunohistochemistry digestive system diseases Molecular analysis BRAF V600E Histiocytosis Langerhans-Cell 030104 developmental biology medicine.anatomical_structure Real-time polymerase chain reaction 030220 oncology & carcinogenesis Cancer research Female |
| Zdroj: | Virchows Archiv. 470:429-435 |
| ISSN: | 1432-2307 0945-6317 |
| DOI: | 10.1007/s00428-017-2092-4 |
| Popis: | Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking-related histiocytic disorder with variable clinical symptoms. Like in other non-pulmonary Langerhans cell proliferations, PLCH has recently been shown to harbour BRAF V600E mutations in a significant subset of cases, thus challenging the concept of PLCH being a reactive disorder. Here, we analysed 38 formalin-fixed and paraffin-embedded PLCH nodules of nine patients for BRAF mutation using two different molecular methods. Using pyrosequencing and allele-specific quantitative PCR (AS-PCR), BRAF V600E mutations were found in 16/38 (42%) and 31/37 (84%) nodules, respectively. Analysing different nodules of the same patients with pyrosequencing 3/6 patients showed a concordant BRAF mutation status. When allele-specific quantitative PCR was used, condordant results were found in 5/6 patients. Our findings clearly indicate that (a) the sensitivity of the method used is crucial in analysing BRAF mutation status, (b) AS-PCR is more sensitive in detecting BRAF V600E mutations than pyrosequencing, (c) BRAF mutation is frequent and might play a key role in the pathogenesis of PLCH and (d) PLCH is a true neoplastic disease. |
| Databáze: | OpenAIRE |
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