Clinical sequencing identifies potential actionable alterations in a high rate of urachal and primary bladder adenocarcinomas

Abstract

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Glandular Lesions of the Urinary Bladder: Diagnostic and Molecular Updates

“…PBAC shows a lower tumor mutational burden compared with UC, with intact mismatch repair-protein expression and lack of programmed cell death ligand 1 expression in most cases 14,24–26 . However, current studies detected potentially targetable molecular alterations in PBAC in 33.5% to 67% of cases 26,27 . Therefore, molecular testing for predictive biomarkers might be helpful in advanced cases.…”

“…14,[24][25][26] However, current studies detected potentially targetable molecular alterations in PBAC in 33.5% to 67% of cases. 26,27 Therefore, molecular testing for predictive biomarkers might be helpful in advanced cases.…”

“…44 However, predictive biomarkers can be identified in 33.5% to 94% of UrAC cases. 26,27 Therefore, also in advanced cases of UrAC, molecular analyses for potential targeted therapy based on a biological rationale are relevant.…”

Progress and prospects of targeted therapy and immunotherapy for urachal carcinoma

“… Lee et al (2017) reported EGFR amplification in 23.5% of patients (4/17) by detecting somatic copy number aberrations. More recently, Varadi et al (2023) described EGFR mutations in 9.1% (3/33) of UrC cases by applying next-generation sequencing. These authors detected two samples with amplification and one sample with a missense mutation.…”

“…Notably, in CRC, the most common KRAS mutation is a somatic missense mutation in codon 12 which leads to a single amino acid substitution ( Zhu et al, 2021 ). In this review, we identified a missense mutation in codon 12 ( Sirintrapun et al, 2014 ; Loh et al, 2016b ; Collazo-Lorduy et al, 2016 ; Modos et al, 2016 ; Hang and Pan, 2017 ; Riva et al, 2019 ; Varadi et al, 2023 ) and codon 13 ( Collazo-Lorduy et al, 2016 ; Singh et al, 2016 ; Hang and Pan, 2017 ; Dienstmann et al, 2020 ) in 23% (23/100) and 5% of UrC samples, while KRAS missense mutations in codon 61 ( Modos et al, 2016 ; Riva et al, 2019 ) and codon 146 ( Modos et al, 2016 ) were present in 2% and 2% of cases, respectively. Collectively, these data revealed that the most common mutation of the KRAS gene was the missense mutation in codon 12; this is similar to the KRAS mutational pattern in CRC ( Cha et al, 2016 ).…”