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Fig. 3 | Acta Neuropathologica Communications

Fig. 3

From: H3F3A mutant allele specific imbalance in an aggressive subtype of diffuse midline glioma, H3 K27M-mutant

Fig. 3

MASI of H3F3A K27M mutation determined with whole-genome sequencing. a Total copy number analyses of chromosome 1 on which H3F3A gene located (upper) and B allele frequency (BAF) of common SNPs (lower) with whole-genome sequencing (WGS) of four more than 50% VAF cases (cases 5, 15, 10, and 12). The red line shows the H3F3A gene region. The x-axis shows the gene location and the y-axis shows the copy number. Gray arrows indicate the H3F3A gene region and PRKACB gene region. Red and blue bars indicate gain and loss, respectively (upper). Higher or lower values between the moving average of the mismatch ratio of SNPs and (1-moving average of mismatch ratio of SNPs) are shown as a yellow or green dot, respectively (lower). b Hematoxylin-Eosin staining of tumor specimen (case 5, 15, 10, and 12; bars: 200um). In each case, the tumor content was calculated as H3 K27M positive cell numbers/DAPI positive cell numbers. c Expected chromosomal structure models of chromosome 1 in cases 5, 15, 10, and 12. The red line indicates the H3F3A K27M mutation. d FISH analysis of chromosome 1p and 1q in MASI cases (case 5; left and case 10; right). Red arrow heads indicated 1p36 signals (red) and white arrow heads indicated 1q25 signals (green) in DAPI-stained nuclei

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