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. Author manuscript; available in PMC: 2022 Jan 1.
Published in final edited form as: Am J Surg Pathol. 2021 Jan;45(1):77–92. doi: 10.1097/PAS.0000000000001572

Figure 4. Somatic genetic alterations.

Figure 4.

The most common mutations involved TP53 (41%) and TSC2 (29%). Other likely oncogenic mutations were found in: ATRX (24%), MED12 (12%), and ESR1 (Y537S hotspot), DAXX (in-frame indel with LOH) and DICER1 (frameshift indel) and RB1 (splice site; each 6%. At the gene copy number level, homozygous deletions of RB1 (18%), BRCA2 (12%), TP53 (12%), TSC2 (6%) and CDKN2A (6%) were the most common. Amplifications were present in FGFR3, NTRK1 and ERBB3 (each 6%). Gene rearrangements identified by fluorescence in situ hybridization (FISH) or Archer targeted RNA-sequencing (top), non-synonymous somatic mutations (middle) and amplifications and homozygous deletions (bottom) identified in 17 tumors from 15 patients using targeted massively parallel sequencing. Mutation types are color-coded according to the legend. Loss of heterozygosity is depicted by a diagonal bar. Indel, small insertion and deletion; SNV, single nucleotide variant.