A Nonsense Mitochondrial DNA Mutation Associates with Dysfunction of HIF1α in a Von Hippel-Lindau Renal Oncocytoma

Figure 3

Genetic and IHC characterization of the renal oncocytoma from the patient carrying the germline VHL deletion. (a, b) Chromatograms showing a reference (a) and the tumor sequence with the somatic homoplasmic m.6129G>A stop-gain mutation found in MT-CO1 (b). (c, d) IHC for COXI in the renal oncocytoma (c) with a QS of 0 (, ) and in a normal kidney used as control (d) with a QS of 12 (, ). (e, f) IHC for hydroxylated HIF1α (OH-HIF1α) in the renal oncocytoma (e) with a QS of 8 (, ) and in the same hypoxic neuroendocrine carcinoma of the ovary stained for GLUT1 in Figure 2 used as control (f) with a QS of 0 (, ). Magnification for all IHC images: 200x.