Figure 2: Representative patients exhibiting inter-tumor heterogeneity.
(a) Patient 06–001 was diagnosed with a BRAFV600E/NRASwild-type/TERTwild-type** primary tumor (P) and developed a BRAFwild-type/NRASQ61K/TERT−124[C>T] satellite metastasis (M1), 310 days after primary resection. The second metastasis was an in-transit lesion diagnosed 3667 days after initial diagnosis and was BRAFwild-type/NRASQ61K/TERT−124[C>T]. The patient subsequently developed a regional lymphatic metastasis of the same genotype. Sample marked as ** was wild-type by SNaPshot but failed ddPCR analysis (this patient was not included in the TERT heterogeneity group). Scale bars = 800 μm in (P) and (M1), 4 mm in (M2) and 3 mm in (M3).
(b) Patient 06–075 had three metastatic tumors which presented with two unique genotypic profiles, M1: BRAFV600E/NRASQ61K/TERTwild-type, M2: BRAFwild-type/NRASQ61K/TERTwild-type and M3: BRAFwild-type/ NRASQ61K/TERTwild-type. The patient’s primary tumor was located on the trunk, in the mid back region, but tissue was not available for mutational analysis. Scale bars = 2 mm in (M1), 5 mm in (M2) and 4 mm in (M3).