Most frequently mutated genes in 19 ULMSs studied by exome-sequencing.

<p>Five tumors did not have mutations in any of the six genes listed.</p

Mutational landscape of the most significant genes in MSS SBAs.

<p>The figure includes the 25 highest-ranking genes in MSS tumors (n = 91) according to OncodriveFML, ranked by the <i>P</i>-value (right, red line at <i>P</i> = 0.05). Of these, <i>TP53</i>, <i>KRAS</i>, <i>APC</i>, <i>SOX9</i>, <i>SMAD4</i>, <i>BRAF</i>, and <i>ACVR2A</i> were significant also after correction for multiple testing. Different colors distinguish between the different types of mutations (in the middle). “Double hit” refers to two truncating mutations. The percentage of mutated tumors by gene are shown on the left. The upper bars represent the total number of both synonymous and non-synonymous mutations per tumor.</p

Clinicopathologic features of the patient cohort.

<p>Clinicopathologic features of the patient cohort.</p

Overview of AI events in SBA.

<p>Frequency of gains and losses in 106 SBA samples.</p

Signature contexts.

<p>The 15 MSI tumors displayed signature 6. There were three signatures (1A, 17, and U2) that could be extracted from the 91 MSS tumors.</p

Mutation pattern in ERBB receptor family.

<p>Mutations in <i>ERBB2</i> (ENST00000269571) grouped into four hotspots (top). Samples (n = 29) with a mutated member of ERBB receptor family are presented in columns (below). In addition to a hotspot mutation, some samples displayed simultaneously a non-hotspot mutation in the same gene, thus all mutations are not shown in the figure. Recep_L = Receptor L domain; Furin-like = Furin-like cysteine rich region; GF_recep = Growth factor receptor domain; Pkinase_Tyr = Protein tyrosine kinase.</p

Mutations in <i>BRAF</i> (ENST00000288602).

<p>In total, 12 mutations were identified in 11 tumors (MSS n = 10, MSI n = 1). RBD = Raf-like Ras-binding domain; C1_1 = C1 domain; Pkinase_Tyr = Protein tyrosine kinase.</p