. Author manuscript; available in PMC: 2020 Sep 1.

Published in final edited form as: Mod Pathol. 2019 Apr 17;32(9):1344–1358. doi: 10.1038/s41379-019-0269-x

Table 1.

Prevalence of 9p24.1 Amplifications in Renal Cell Carcinomas.

Study	Testing Platform	9p24.1 Amplification	Other Alterations
^31–34The Cancer Genome Atlas	Whole exome next generation sequencing assay	3/533 (0.6%) clear cell renal cell carcinoma 0/66 chromophobe renal cell carcinoma 0/280 papillary renal cell carcinoma [Total Cohort: 3/879 (0.3%) renal cell carcinoma]	See Table 2 (cases 6, 11 and 12) for details
³⁶Malouf	255 gene hybrid capture-based next generation sequencing assay	2/26 (7.7%) renal cell carcinoma with sarcomatoid transformation	Case1: Sarcomatoid renal cell carcinoma (LRP1B c.10638G>C, TP53 c.395A>T, PTEN c.209+1G>C, JAK2/CD274 amplification, VHL deletion) Case2: Unclassified renal cell carcinoma (CCND1/ MDM4/RPTOR/JAK2 amplification)
³⁵Casuscelli et al	MSK-IMPACT next generation sequencing assay; (341-410 gene hybrid capture-based assay)	2/60 (3.3%) chromophobe renal cell carcinoma	Case1: Included in Discovery Cohort (See case3 in Table 2) Case2: See case13 in Table 2
³ Goodman et al	Foundation One next generation sequencing assay (315-405 gene hybrid capture-based assay)	4/66 (6.1%) renal cell carcinoma with sarcomatoid transformation [Total Cohort: 4/766 (0.5%) renal cell carcinoma, not otherwise specified]	Not reported
Present Study Discovery Cohort	MSK-IMPACT next generation sequencing assay (341-468 gene hybrid capture-based assay); Fluorescence in situ hybridization (whole slide section) JAK2/INSL6 (n=26), PD-L1/PD-L2 (n=2); Immunohistochemistry: PD-L1/PD-L2/PD1/pSTAT3 (n=6)	5/33 (15.1%) renal cell carcinoma with sarcomatoid transformation (13 cases profiled by MSK-IMPACT, 20 cases screened by JAK2/INSL6 fluorescence in situ hybridization) [Total cohort: 5/593 (0.8%) renal cell carcinoma]	See Table 2 (cases 1 to 5) for details
Present Study Validation Cohort	Fluorescence in situ hybridization (tissue microarray) JAK2/INSL6 (n=398) Fluorescence in situ hybridization (whole slide section) JAK2/INSL6 (n=5) PD-L1/PD-L2 (n=2) Immunohistochemistry: PD-L1/PD-L2 (n=5)	4/127 (3.1%) renal cell carcinoma with sarcomatoid transformation 0/271 non-sarcomatoid renal cell carcinoma [Total cohort: 4/398 (1.0%) renal cell carcinoma	See Table 2 (cases 7-10) for details

MSK-IMPACT: Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets.