IntroductionUrothelial neoplasm is a major disease entity encountered commonly by physicians in urology and genitourinary pathology. According to the current World Health Organisation (WHO) tumour classification, urothelial neoplasm includes infiltrating urothelial carcinoma and non‐invasive urothelial tumours. Many cases of non‐invasive urothelial tumours present papillary lesions with mild to no cytological atypia. These tumours include urothelial papilloma, papillary urothelial neoplasm of low malignant potential (PUNLMP) and low‐grade noninvasive papillary urothelial carcinoma (NIPUC). These entities exhibit different clinical risks of recurrence and tumour progression, and pathological examination is crucial for their diagnosis. Such categorisation is based solely on histological findings, and further risk stratification by genetic evidence has not been adapted widely in current clinical practice.Based on the evidence from previous studies, mutations involving TERT, FGFR3 and HRAS genes were identified frequently in urothelial neoplasms. The TERT gene encodes the human telomere reverse transcriptase, which maintains the telomere length in tumour cells. Mutations in the promoter region of the TERT gene have been found not only in bladder cancer but also other types of human cancers, including malignant melanoma, thyroid carcinoma and glioma. In bladder cancer, TERT promoter mutations were found in a considerable percentage of tumour samples, regardless of the
Histopathology – Wiley
Published: Jan 1, 2018
Keywords: ; ; ; ;
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