A highly oncogenic, somatic variant of PIK3CA identified in two primary malignancies: clear cell renal cell carcinoma and prostate adenocarcinoma in the same patient

Abstract

consent from study participants. The research was conducted in accordance with the Helsinki Declaration.Patients Blood samples were drawn from 23 healthy individuals (age range, 23-55 years; 11 men and 12 women), 13 disease controls (3 patients with oncocytoma, 2 with papillary carcinoma, 5 chromophobe renal cell carcinoma, and 3 with unclassified RCC; age range, 36-76 years), and 20 patients with ccRCC (age range, 48-89 years; 11 men and 9 women). Fresh renal tumor samples were obtained after partial or radical nephrectomy. This study also utilized 2 formalin -fixed paraffin -embedded (FFPE) prostate cancer samples, one from a patient with ccRCC whose renal tumor was positive for PIK3CA alteration (COSM754), and one from a patient with ccRCC whose kidney tumor was negative for PIK3CA alteration (a negative control for target sequencing).Targeted sequencing of cancer -associated genes and data analysis The genomic DNA was purified from blood, and tumor specimens using Pure-Link genomic DNA mini kit (Thermo Fisher Scientific, Waltham, Massachusetts, United States). The quality of DNA was assessed on agarose gel stained with ethidium bromide, and the quantity of DNA was measured using the Qubit 2.0 fluorometer (Thermo Fisher Scientific). The mutational status of "hotspot" regions (encompassing 2856 COSMIC mutations) in 50 cancer -related genes (ABL1,