Telomerase reverse transcriptase (<scp>TERT</scp>) promoter mutation analysis of benign, malignant and reactive urothelial lesions reveals a subpopulation of inverted papilloma with immortalizing genetic change

Liu, Cheng; Davidson, Darrell D.; Wang, Mingsheng; López-Beltrán, Antonio; Montironi, Rodolfo; Wang, Lisha; Tan, Puay Hoon; MacLennan, Gregory T.; Williamson, Sean R.; Zhang, Shaobo

doi:10.1111/his.12920

Cited by 55 publications

(38 citation statements)

References 28 publications

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“…With the exception of the case outlined above and contrasting prior reports in the literature , none of the other IUP or UP tumors had TERT promoter or activating FGFR3 mutations. Similarly, in contrast to urothelial carcinomas, oncogenic alterations in chromatin remodeling genes were uncommon in both IUP and UP, being identified in only one IUP and two UP cases.…”

Section: Resultscontrasting

confidence: 80%

Genomic landscape of inverted urothelial papilloma and urothelial papilloma of the bladder

Isharwal

Sarungbam

et al. 2019

The Journal of Pathology

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Inverted urothelial papilloma (IUP) and urothelial papilloma (UP) are rare urothelial neoplasms that typically follow a benign clinical course. Oncogenic mutations in FGFR3, HRAS, and the TERT promoter have been reported in these entities but no comprehensive molecular analysis has been performed. We sought to characterize the genomic landscape of IUP and UP using whole‐exome and targeted next‐generation sequencing. In IUP, 10 of 11 tumors harbored oncogenic hotspot mutations in HRAS and the remaining tumor had an oncogenic KRAS mutation. None of the IUP tumors harbored TERT promoter or FGFR3 mutations. In UP, 8 of 11 tumors had oncogenic KRAS mutations and two had oncogenic HRAS mutations. One UP tumor had oncogenic mutations in FGFR3, PIK3CA, and the TERT promoter, and arose in a patient with recurrent non‐invasive papillary urothelial carcinomas. In contrast to urothelial carcinoma, the APOBEC mutational signature was not present in any IUP and UP tumors, and oncogenic alterations in chromatin remodeling genes were uncommon in both IUP and UP. The current study suggests that IUP and UP are driven primarily by RAS pathway activation and lack the more common genomic features of urothelial cancers. Copyright © 2019 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

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Section: Resultscontrasting

confidence: 80%

Genomic landscape of inverted urothelial papilloma and urothelial papilloma of the bladder

Isharwal

Sarungbam

et al. 2019

The Journal of Pathology

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“…Although our study found no TERT promoter mutation in any case of inverted papilloma, Cheng et al . reported TERT promoter mutations in 15% (four of 26) cases of inverted papillomas . Such a discrepancy might result from the ethnic factor or other causes; however, the potential interobserver variation may influence the accuracy of metanalysis among these studies.…”

Section: Discussionmentioning

confidence: 97%

“…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 tumour stage and histological grade . Vinagre et al .…”

Section: Introductionmentioning

confidence: 99%

Biological significance of TERT promoter mutation in papillary urothelial neoplasm of low malignant potential

et al. 2018

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“…A component of conventional urothelial carcinoma is frequently present. The nested urothelial carcinoma, seen either in pure form or with a component of conventional urothelial carcinoma, has a poor outcome …”

Section: Nested Urothelial Carcinomamentioning

confidence: 99%

“…The differential diagnosis of the nested variant of urothelial carcinoma includes lesions and tumours with nested‐like morphology as prominent von Brunn nests, cystitis cystica, cystitis glandularis, inverted papilloma, nephrogenic metaplasia, carcinoid tumour, paraganglionic tissue and paraganglioma (Table ) . The large nested variant of urothelial carcinoma seems to be inter‐related to urothelial carcinoma with inverted growth, and the differential between both entities might not always be possible .…”

Section: Nested Urothelial Carcinomamentioning

confidence: 99%

Variants and new entities of bladder cancer

et al. 2018

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Pathological evaluation of bladder cancer typically reveals great tumour heterogeneity, and therefore the common observation of urothelial carcinoma exhibiting a wide variety of histopathological patterns is not surprising. Some of these patterns are so distinctive that they have been recognised as specific variants of urothelial carcinoma. Classifications have recently been revised in the 2016 World Health Organisation (WHO) classification of tumours of the urinary system and male genital organs. The current WHO classifications clarify terminological issues and provide better definition criteria, but also incorporate some new entities. Many of these variants have important prognostic or therapeutic implications worth knowing by the urologist and oncologist, but also represent diagnostic challenges in daily pathology practice. This review will discuss the features of variants of urothelial carcinoma in the context of our current clinical practice. Histological variations and new entities of bladder cancer not included in the current WHO classification of urothelial tumours will be briefly discussed.

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Telomerase reverse transcriptase (TERT) promoter mutation analysis of benign, malignant and reactive urothelial lesions reveals a subpopulation of inverted papilloma with immortalizing genetic change

Cited by 55 publications

References 28 publications

Genomic landscape of inverted urothelial papilloma and urothelial papilloma of the bladder

Genomic landscape of inverted urothelial papilloma and urothelial papilloma of the bladder

Biological significance of TERT promoter mutation in papillary urothelial neoplasm of low malignant potential

Variants and new entities of bladder cancer

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