In:
Journal of Cutaneous Immunology and Allergy, Wiley, Vol. 1, No. 1 ( 2018-04), p. 16-22
Kurzfassung:
Erdheim‐Chester disease ( ECD ) is a rare form of non‐Langerhans cell histiocytosis with multi‐organ involvement. Many cases have mutations in the BRAF and other genes involved in the MAPK activation pathway. Pseudogenes, which regulate their parental genes post‐transcriptionally, are overexpressed in various tumors, but we found no previous reports of high pseudogene expression in ECD . Methods We evaluated the xanthoma tissues of two patients with ECD . BRAF from the genomic DNA of the tissue was amplified by the polymerase chain reaction ( PCR ). The amplified fragment was directly sequenced to search the BRAFV 600E mutation. Real‐time PCR was performed to amplify cDNA via primer sets specific for either BRAF or BRAF pseudogenes. Results The first case, with advanced stable ECD , expressed high levels of BRAF pseudogenes and BRAF , and a low frequency of the BRAFV 600E mutation. The second case, with early active ECD , showed high expression levels of both BRAF pseudogenes and BRAF gene but no BRAFV 600E mutation. Discussion In the early‐stage of ECD , high levels of BRAF pseudogene expression may boost BRAF expression, promoting the proliferation of xanthomas. The BRAF ‐V600E mutation may be associated with advanced stable stage. Conclusion This is the first report of ECD without a BRAFV 600E mutation and with elevated BRAF gene and BRAF pseudogene expression. The etiologic ramifications of BRAF or BRAF pseudogenes in patents with ECD will be the focus of future study.
Materialart:
Online-Ressource
ISSN:
2574-4593
,
2574-4593
DOI:
10.1002/cia2.2018.1.issue-1
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2018
ZDB Id:
2929465-4
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