Figure 2.

Array comparative genomic hybridisation of BHD (a) and CS (b) oncocytic neoplasms. Large deletion of Chr10q in the BHD sample (a) as well as a small deletion of Chr10q, a partial loss of Chr17p and large duplications of Chr5 and Chr7 in CS sample (b) can be observed. (c) Schematic representation of the mirrored genetic profile in parotid and thyroid oncocytomas of BHD and CS patients. Germline mutations as well as somatic hits in PTEN and FLCN are shown. (d) Alternative pathways involved in the formation of sporadic and syndromic oncocytomas. Upon a first tumorigenic hit, either mtDNA mutations or FLCN/PTEN double heterozygosity, increase in PGC1α transcription and subsequent increase of mitochondrial biogenesis, the main feature of oncocytic cancers, would occur.