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High prevalence of BRAF V6E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses


, : High prevalence of BRAF V6E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses.

Histiocytoses are rare disorders of unknown origin with highly heterogeneous prognosis. BRAF mutations have been observed in Langerhans cell histiocytosis (LCH). We investigated the frequency of BRAF mutations in several types of histiocytoses. Histology from 127 patients with histiocytoses were reviewed. Detection of BRAFV600 mutations was performed by pyrosequencing of DNA extracted from paraffin embedded samples. Diagnoses of Erdheim-Chester disease (ECD), LCH, Rosai-Dorfman disease, juvenile xanthogranuloma, histiocytic sarcoma, xanthoma disseminatum, interdigitating dendritic cell sarcoma, and necrobiotic xanthogranuloma were performed in 46, 39, 23, 12, 3, 2, 1, and 1 patients, respectively. BRAF status was obtained in 93 cases. BRAFV600E mutations were detected in 13 of 24 (54%) ECD, 11 of 29 (38%) LCH, and none of the other histiocytoses. Four patients with ECD died of disease. The high frequency of BRAFV600E in LCH and ECD suggests a common origin of these diseases. Treatment with vemurafenib should be investigated in patients with malignant BRAFV600E histiocytosis.

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Other references

He, W.; Kienzle, A.; Liu, X.; Müller, W.E.G.; Elkhooly, T.A.; Feng, Q., 2016: In Vitro Effect of 30 nm Silver Nanoparticles on Adipogenic Differentiation of Human Mesenchymal Stem Cells. With the combined use of silver nanoparticles (Ag NPs) and human bone marrow derived mesenchymal stem cells (hMSCs) in bone tissue engineering, more knowledge of the effects of Ag NPs on hMSCs is required. Up to date, researches mainly focused on...

Roberton D.M.; Hosking C.S., 1988: Use of methylprednisolone as prophylaxis for immediate adverse infusion reactions in hypogammaglobulinemic patients receiving intravenous immunoglobulin a controlled trial. Ten children and young adults with humoral immunodeficiency disorders were enrolled in a blind crossover study of the effect of intravenous methylprednisolone in preventing immediate adverse infusion reactions to intravenous immunoglobulin. The pa...

Calvert, J.P., 1977: More hydatidiform moles?. British Medical Journal 2(6086): 578-579

Nema, A.G., 1975: Estimation of losses by Xanthomonas betlicola Patel, Kulkarni & Dhande, causing bacterial leaf spot of pan in Jabalpur. Disease incidence in Piper betle increased after May, was max. during Aug.-Sept., coinciding with high RH and moderate temps., and declined from Oct. to Apr.

Nadesan, K., 2000: Pattern of suicide: a review of autopsies conducted at the University Hospital, Kuala Lumpur. Suicide is one of the ten leading causes of death in the world, accounting for more than 400,000 deaths annually. The pattern of suicide and the incidence of suicide vary from country to country. Cultural, religious and social values play some rol...

Culjak, K., 1972: Einige Funde von Armillifer armlllatus bei Zootieren. Unknown

Blau, L.; Phillips, J.; Rose, D.L., 1952: A device to facilitate standing from a sitting position: for patients with severe residuals of poliomyelitis. Archives of Physical Medicine and Rehabilitation 33(3): 159-162

Lambers, H.; Steingrover, E., 1978: Efficiency of root respiration of a flood-tolerant and a flood-intolerant Senecio species as affected by low oxygen tension. The determination of the root growth respiration and root maintenance respiration rate during linear growth of plants grown in culture solutions of high and low oxygen concentrations is described. Root growth respiration of aerobically grown plant...

Hall, R., 1907: The useful birds of Southern Australia. Unknown

Maksimova I.V.; Karapetyan T.S.; Zabarovska I.M., 1968: Liberation of organic substances into the medium during autotrophic cultivation of scenedesmus quadricauda. Nauchnye Doklady Vysshei Shkoly Biologicheskie Nauki 11(9): 88-93