Clinicopathological and molecular genetic analysis of 10 cases of nephrogenic ade-noma/metaplasia in bladder
10.13315/j.cnki.cjcep.2025.05.005
- VernacularTitle:膀胱肾源性腺瘤/化生10例临床病理和分子遗传学特征分析
- Author:
Wenwu LUO
1
;
Mei LI
;
Kun ZHONG
;
Yu YIN
Author Information
1. 安徽医科大学基础医学院病理学教研室,合肥 230032;安徽医科大学第一附属医院病理科,合肥 230022
- Publication Type:Journal Article
- Keywords:
bladder neoplasms;
nephrogenic adenoma/metaplasia;
clinicopathological features;
immunohistochemis-try;
whole exome sequencing
- From:
Chinese Journal of Clinical and Experimental Pathology
2025;41(5):584-590
- CountryChina
- Language:Chinese
-
Abstract:
Purpose To investigate the clinicopathological characteristics of nephrogenic adenoma/metaplasia(NA/M)of the bladder and analyze key points for diagnosis and differential diagnosis.Methods A retrospective a-nalysis was conducted on 10 cases of NA/M of the bladder,including clinical data,cystoscopic findings,microscopic morphology,and immunohistochemistry(IHC)results.Subsequently,a whole-exome sequencing(WES)was per-formed and a comprehensive literature review was supplemented.Results The cohort included 6 cases female and 4 cases male,aged 20-72 years(median:46.5 years).Three patients had a history of hydronephrosis(2 cases with nephrolithiasis and hydronephrosis,1 case with acute leukemia and bone marrow transplantation),2 cases had renal tuberculosis,1 case had erectile dysfunction,3 cases had a history of invasive high-grade urothelial carcinoma of the bladder,and 1 case had bladder endometriosis.All patients underwent cystoscopic biopsy,with pathological confirma-tion of NA/M.IHC showed that all 10 cases expressed PAX-8 and CK7 but were negative for GATA-3,p63/CK5/6,and PSA.The Ki67 proliferation index ranged from 1％to 10％.WES analysis of 7 cases revealed somatic single nu-cleotide variants(SNVs)involving multiple genes,with the highest mutation frequencies in FAM186A(86％),GOL-GA6L2(86％),and AQP7(86％).Conclusion NA/M is a benign but recurrent lesion,with rare malignant trans-formation after multiple recurrences.Comprehensive evaluation of histomorphological atypia and IHC results is recom-mended for accurate diagnosis and differential diagnosis to avoid misdiagnosis.Long-term follow-up is advised.WES findings suggest associations between NA/M and mutations in FAM186A,GOLGA6L2,and AQP7,providing potential directions for future research.
