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. 2019 Mar;104(3):e97-e99.
doi: 10.3324/haematol.2018.201194. Epub 2018 Sep 27.

Highly sensitive methods are required to detect mutations in histiocytoses

Sarah Melloul  1 , Zofia Hélias-Rodzewicz  1   2 , Fleur Cohen-Aubart  3   4 , Frédéric Charlotte  3   5 , Sylvie Fraitag  6 , Nathalie Terrones  1   2 , Quentin Riller  4 , Thibaud Chazal  4 , Sébastien Héritier  1   7 , Anne Moreau  8 , Marianne Kambouchner  9 , Marie Christine Copin  10 , Jean Donadieu  1   7 , Valérie Taly  11 , Zahir Amoura  3   4 , Julien Haroche  3   4 , Jean François Emile  12   2
Affiliations

Highly sensitive methods are required to detect mutations in histiocytoses

Sarah Melloul et al. Haematologica. 2019 Mar.
No abstract available

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Figures

Figure 1.
Figure 1.
Variant allele frequencies of BRAF mutations in adult histiocytoses. (A) Frequencies of patients with BRAF mutations in the different types of histiocytoses. (B) Distribution of the histiocytoses according to their VAF. For instance, the numbers of cases with VAF 0 to 1%, 1 to 2% and 2 to 3% were 8, 10 and 11 respectively. (C) VAF values in the main types of histiocytoses. (D) Correlation of VAF with the percentage of histiocytes (i.e., all the histiocytes identified by histology among all cells present within the tissue). Whatever the method used, the correlation of VAF with the percentage of histiocytes was low: R2 was 0.15 and 0.01 in pyrosequencing and pddPCR respectively.
Figure 2.
Figure 2.
Best metabolic response to treatment with BRAF inhibitors at 3 or 6 months in patients, with either low (<5%) or high VAF.
See this image and copyright information in PMC

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