256 Chapter 11 Table 3. Continued Reference Level of Testing Name Genes, Molecules or Panel Investigated Type of Analysis Performed Gene or Molecule Name and Mutation or Expression Status (n) No. of Patients with PM (N) and Outcomes (n) No. of Patients without PM (N) and Outcomes (n) MMR Status (MSI/MSS) Findings as Reported by Authors in Studies Takahashi et al. 38 RNA NEK2 RT-PCR N = 6 N = 174 N/A The high NEK2 expression group showed greater PM then the low NEK2 mRNA expression group (p = 0.004 b,d). NEK2 low (90) 0 90 NEK2 high (90) 6 84 Taniguchi et al. 39 DNA RAS, NRAS, BRAF and PIK3CA PCR N = 62 N = 281 N/A The frequencies of RAS/ BRAFV600E wild-type over either BRAF or PIK3CA mutations were higher for PM (35% vs. 15%, p = 0.003 d). RAS and BRAF wildtype (291) 44 247 RAS wild-type + BRAF or PIK3CA mutation (52) 18 34 Tran et al. 48 DNA BRAF RT-PCR N = 139 N = 385 Total: 40/310 BRAF mutant tumors had significantly higher rates of PM (46% vs. 24%, p = 0.001d). BRAF mutant (57) 26 31 12/30 Yaeger et al. 49 DNA BRAF Sanger sequencing, Sequenom MassArray N = 84 N = 431 N/A PM was significantly more common at the time of diagnosis of metastatic disease in the BRAF-mutant cases (26% vs. 14%, p < 0.01d). BRAF mutant (92) 24 68 Yang et al. 50 DNA RET NGS N = 170 N = 412 Total: 24/558 The presence of RET mutations was associated with PM compared to wild-type tumors (56.2% vs. 28.4%, p = 0.024d). RET mutant (16) 9 7 6/10
RkJQdWJsaXNoZXIy MTk4NDMw