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Cancer Discovery
Cancer Discovery
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About the Cover

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Hyman, Diamond, and colleagues carried out a prospective, blinded study to quantitatively detect the BRAFV600E mutation in circulating tumor cell-free DNA (cfDNA) from the urine and plasma of patients with Langerhans cell histiocytosis or Erdheim-Chester disease. Urinary cfDNA analysis defined the BRAF genotype of all 30 patients and was 100% concordant with tissue genotypes among treatment-naïve patients. Furthermore, serial urinary cfDNA analyses in patients treated with a BRAF inhibitor or immunomodulatory therapy showed a progressive decrease in BRAFV600E allele burden, consistent with radiographic evidence of disease improvement. Tissue and cfDNA genotyping also identified a previously unreported somatic KRASG12S mutation in a BRAF wild-type patient. These data suggest cfDNA testing as a reliable, noninvasive method to detect BRAFV600E mutations and monitor response to therapy in histiocytic disorders. For details, please see the article by Hyman, Diamond, and colleagues on page 64.

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Cancer Discovery: 5 (1)
January 2015
Volume 5, Issue 1
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Cancer Discovery
eISSN: 2159-8290
ISSN: 2159-8274

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