Fig. 3: Variants and expression of FH in papillary renal cell carcinoma (pRCC) and methylation status in the FH-mutated tumors.
From: Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma
(a) Sanger sequencing chromatograms for FH-positive cases. Sequencing was performed in the blood and in the tumor samples available. (b) Immunohistochemistry (IHC) of FH and 5-hydroxymethylcytosine (5hmC). Representative IHC images obtained for three FH-deficient tumors with tissue available and one pRCC type 2 tumor with no variant in FH (FH-WT). (c) Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assessing the methylation status of 31 CpG islands in 8 genes, to define CpG island methylator phenotype (CIMP). The tested sample is shown in orange and the reference normal kidney formalin-fixed paraffin-embedded (FFPE) tissue in black. The kit includes methylation-susceptible and reference probes (R).
