Format

Send to

Choose Destination
Virchows Arch. 2017 Apr;470(4):429-435. doi: 10.1007/s00428-017-2092-4. Epub 2017 Feb 20.

Molecular analysis of BRAF V600E mutation in multiple nodules of pulmonary Langerhans cell histiocytosis.

Author information

1
Institute of Pathology, St. Vincent's Hospital Karlsruhe, Suedendstrasse 37, 76137, Karlsruhe, Germany.
2
Institute of Pathology, University of Freiburg, Freiburg, Germany.
3
Institute of Pathology, St. Vincent's Hospital Karlsruhe, Suedendstrasse 37, 76137, Karlsruhe, Germany. Gerhard.Faller@vincentius-ka.de.

Abstract

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.

KEYWORDS:

Allele-specific quantitative PCR; BRAF-mutation; Clonality; Pulmonary Langerhans cell histiocytosis; Pyrosequencing

PMID:
28220299
DOI:
10.1007/s00428-017-2092-4
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center