Figure 5.
ETV6 deletion and decreased expression is common in TP53-mutated myeloid malignancies. (A) Genomic locations of copy-number losses intersecting the minimally deleted region on chr12p (n = 19). Locations of all protein encoding genes intersecting this region are shown. (B) mRNA expression for genes within the minimally deleted region of chr12p, displayed for genes with a minimum mean expression of 10 counts per million mapped reads for at least 1 group. Boxplot indicates median and first and third quartiles; whiskers indicate the range of all data points falling within 1.5 × interquartile range (IQR). CBF AML (n = 11); NK AML (n = 52); TP53-mutated with 12p intact (n = 6); and TP53-mutated with 12p loss (n = 8). (C) mRNA expression of ETV6 in TP53-mutated samples with and without 12p loss, compared with NK and CBF AML cases (n = 8, 6, 52, and 11, respectively). ∗Adjusted P value < .05, edgeR exactTestDoubleTail with adjustment for multiple comparisons. (D) Extension cohort of additional cases from the previously published The Cancer Genome Atlas Program AML data set. mRNA expression of ETV6 in TP53-mutated samples with 12p loss and with 12p intact (n = 4 and 11, respectively), NK (n = 79), CBF (n = 18), and 12p loss (TP53 wild type, n = 4) samples. ∗Adjusted P value < .05, t test with multiple testing correction.