biostudies-literatureJikuya RU.S. Department of Health and Human ServicesNational Cancer InstituteNCI NIH HHSNational Institutes of HealthJapan Society for the Promotion of ScienceGovernment of South Australia104596https://www.ebi.ac.uk/biostudies/studies/S-EPMC10200853biostudies-literatureUnknown92<h4>Background</h4>Birt-Hogg-Dubé (BHD) syndrome, caused by germline alteration of folliculin (FLCN) gene, develops hybrid oncocytic/chromophobe tumour (HOCT) and chromophobe renal cell carcinoma (ChRCC), whereas sporadic ChRCC does not harbor FLCN alteration. To date, molecular characteristics of these similar histological types of tumours have been incompletely elucidated.<h4>Methods</h4>To elucidate renal tumourigenesis of BHD-associated renal tumours and sporadic renal tumours, we conducted whole genome sequencing (WGS) and RNA-sequencing (RNA-seq) of sixteen BHD-associated renal tumours from nine unrelated BHD patients, twenty-one sporadic ChRCCs and seven sporadic oncocytomas. We then compared somatic mutation profiles with FLCN variants and RNA expression profiles between BHD-associEBioMedicineComparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.PMC1020085318H0404921H03068HHSN261201500003I20K0739519K0776919K1859119K09717HHSN261201500003C19K1656319K0969420K1812118H0293819K23781Muraoka KKomeya MAomori KIto YJikuya RKawaura SLee HKanazashi YFujii SMakiyama KHasumi HNakagawa HKato IShuch BMIto HOkawa YIribe YFuruya MHamanoue HSong WTamura TImoto SSasagawa SFujita MLinehan WMHa KJu YSYao MAn JSchmidt LSMitome TRicketts CJBaba MTatenuma TSuda TOhtake SKodama TNoguchi GMaejima KKim YJohnson TAfalseComparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.<h4>Background</h4>Birt-Hogg-Dubé (BHD) syndrome, caused by germline alteration of folliculin (FLCN) gene, develops hybrid oncocytic/chromophobe tumour (HOCT) and chromophobe renal cell carcinoma (ChRCC), whereas sporadic ChRCC does not harbor FLCN alteration. To date, molecular characteristics of these similar histological types of tumours have been incompletely elucidated.<h4>Methods</h4>To elucidate renal tumourigenesis of BHD-associated renal tumours and sporadic renal tumours, we conducted whole genome sequencing (WGS) and RNA-sequencing (RNA-seq) of sixteen BHD-associated renal tumours from nine unrelated BHD patients, twenty-one sporadic ChRCCs and seven sporadic oncocytomas. We then compared somatic mutation profiles with FLCN variants and RNA expression profiles between BHD-associ2023-01-01T00:00:00Z2023 Jun2025-04-26T13:02:04.754Z2025-04-06T14:06:05.41ZS-EPMC102008533718226910.1016/j.ebiom.2023.104596