Spectrum of genetic mutations in de novo PUNLMP of the urinary bladder

Maria Del Carmen Rodriguez Pena; Aline C. Tregnago; Marie Lisa Eich; Simeon Springer; Yuxuan Wang; Diana Taheri; Dilek Ertoy; Kazutoshi Fujita; Stephania M. Bezerra; Isabela W. Cunha; Maria Rosaria Raspollini; Lijia Yu; Trinity J. Bivalacqua; Nickolas Papadopoulos; Kenneth W. Kinzler; Bert Vogelstein; George J. Netto

doi:10.1007/s00428-017-2164-5

Spectrum of genetic mutations in de novo PUNLMP of the urinary bladder

Maria Del Carmen Rodriguez Pena, Aline C. Tregnago, Marie Lisa Eich, Simeon Springer, Yuxuan Wang, Diana Taheri, Dilek Ertoy, Kazutoshi Fujita, Stephania M. Bezerra, Isabela W. Cunha, Maria Rosaria Raspollini, Lijia Yu, Trinity J. Bivalacqua, Nickolas Papadopoulos, Kenneth W. Kinzler, Bert Vogelstein, George J. Netto

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17 Scopus citations

Abstract

Our group and others have previously demonstrated the presence of TERT promoter mutations (TERT-mut) in 60–80% of urothelial carcinomas and some of their histologic variants. Five other genes have been frequently implicated in bladder cancer: FGRF3, TP53, PIK3CA, HRAS, and CDKN2A. In the current study, we sought to determine the prevalence of mutations in TERT and these five other genes in de novo papillary urothelial neoplasms of low malignant potential (PUNLMP) of the urinary bladder. A retrospective search of our archives for PUNLMP was performed and 30 de novo cases were identified and included in the study. We found mutations in TERT (TERT-mut) and FGFR3 (FGFR3-mut) to be the most common alterations in the cohort (63 and 60%, respectively). The majority of the TERT-mut-positive tumors (84%) had a g.1295228C > T alteration with the remaining tumors demonstrating g.1295250C > T. Approximately one fourth of tumors had TP53 mutations. These findings support the potential utility of a uniform genetic mutation panel to detect bladder cancers of various subtypes.

Original language	English (US)
Pages (from-to)	761-767
Number of pages	7
Journal	Virchows Archiv
Volume	471
Issue number	6
DOIs	https://doi.org/10.1007/s00428-017-2164-5
State	Published - Dec 1 2017

Keywords

Bladder neoplasm
Early detection
FGRF3
PIK3CA
PUNLMP
TERT
TP53

ASJC Scopus subject areas

Pathology and Forensic Medicine
Molecular Biology
Cell Biology

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Rodriguez Pena, M. D. C., Tregnago, A. C., Eich, M. L., Springer, S., Wang, Y., Taheri, D., Ertoy, D., Fujita, K., Bezerra, S. M., Cunha, I. W., Raspollini, M. R., Yu, L., Bivalacqua, T. J., Papadopoulos, N., Kinzler, K. W., Vogelstein, B., & Netto, G. J. (2017). Spectrum of genetic mutations in de novo PUNLMP of the urinary bladder. Virchows Archiv, 471(6), 761-767. https://doi.org/10.1007/s00428-017-2164-5

Rodriguez Pena, MDC, Tregnago, AC, Eich, ML, Springer, S, Wang, Y, Taheri, D, Ertoy, D, Fujita, K, Bezerra, SM, Cunha, IW, Raspollini, MR, Yu, L, Bivalacqua, TJ, Papadopoulos, N , Kinzler, KW , Vogelstein, B & Netto, GJ 2017, 'Spectrum of genetic mutations in de novo PUNLMP of the urinary bladder', Virchows Archiv, vol. 471, no. 6, pp. 761-767. https://doi.org/10.1007/s00428-017-2164-5

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abstract = "Our group and others have previously demonstrated the presence of TERT promoter mutations (TERT-mut) in 60–80% of urothelial carcinomas and some of their histologic variants. Five other genes have been frequently implicated in bladder cancer: FGRF3, TP53, PIK3CA, HRAS, and CDKN2A. In the current study, we sought to determine the prevalence of mutations in TERT and these five other genes in de novo papillary urothelial neoplasms of low malignant potential (PUNLMP) of the urinary bladder. A retrospective search of our archives for PUNLMP was performed and 30 de novo cases were identified and included in the study. We found mutations in TERT (TERT-mut) and FGFR3 (FGFR3-mut) to be the most common alterations in the cohort (63 and 60%, respectively). The majority of the TERT-mut-positive tumors (84%) had a g.1295228C > T alteration with the remaining tumors demonstrating g.1295250C > T. Approximately one fourth of tumors had TP53 mutations. These findings support the potential utility of a uniform genetic mutation panel to detect bladder cancers of various subtypes.",

keywords = "Bladder neoplasm, Early detection, FGRF3, PIK3CA, PUNLMP, TERT, TP53",

author = "{Rodriguez Pena}, {Maria Del Carmen} and Tregnago, {Aline C.} and Eich, {Marie Lisa} and Simeon Springer and Yuxuan Wang and Diana Taheri and Dilek Ertoy and Kazutoshi Fujita and Bezerra, {Stephania M.} and Cunha, {Isabela W.} and Raspollini, {Maria Rosaria} and Lijia Yu and Bivalacqua, {Trinity J.} and Nickolas Papadopoulos and Kinzler, {Kenneth W.} and Bert Vogelstein and Netto, {George J.}",

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AU - Rodriguez Pena, Maria Del Carmen

AU - Tregnago, Aline C.

AU - Eich, Marie Lisa

AU - Springer, Simeon

AU - Wang, Yuxuan

AU - Taheri, Diana

AU - Ertoy, Dilek

AU - Fujita, Kazutoshi

AU - Bezerra, Stephania M.

AU - Cunha, Isabela W.

AU - Raspollini, Maria Rosaria

AU - Yu, Lijia

AU - Bivalacqua, Trinity J.

AU - Papadopoulos, Nickolas

AU - Kinzler, Kenneth W.

AU - Vogelstein, Bert

AU - Netto, George J.

PY - 2017/12/1

Y1 - 2017/12/1

N2 - Our group and others have previously demonstrated the presence of TERT promoter mutations (TERT-mut) in 60–80% of urothelial carcinomas and some of their histologic variants. Five other genes have been frequently implicated in bladder cancer: FGRF3, TP53, PIK3CA, HRAS, and CDKN2A. In the current study, we sought to determine the prevalence of mutations in TERT and these five other genes in de novo papillary urothelial neoplasms of low malignant potential (PUNLMP) of the urinary bladder. A retrospective search of our archives for PUNLMP was performed and 30 de novo cases were identified and included in the study. We found mutations in TERT (TERT-mut) and FGFR3 (FGFR3-mut) to be the most common alterations in the cohort (63 and 60%, respectively). The majority of the TERT-mut-positive tumors (84%) had a g.1295228C > T alteration with the remaining tumors demonstrating g.1295250C > T. Approximately one fourth of tumors had TP53 mutations. These findings support the potential utility of a uniform genetic mutation panel to detect bladder cancers of various subtypes.

AB - Our group and others have previously demonstrated the presence of TERT promoter mutations (TERT-mut) in 60–80% of urothelial carcinomas and some of their histologic variants. Five other genes have been frequently implicated in bladder cancer: FGRF3, TP53, PIK3CA, HRAS, and CDKN2A. In the current study, we sought to determine the prevalence of mutations in TERT and these five other genes in de novo papillary urothelial neoplasms of low malignant potential (PUNLMP) of the urinary bladder. A retrospective search of our archives for PUNLMP was performed and 30 de novo cases were identified and included in the study. We found mutations in TERT (TERT-mut) and FGFR3 (FGFR3-mut) to be the most common alterations in the cohort (63 and 60%, respectively). The majority of the TERT-mut-positive tumors (84%) had a g.1295228C > T alteration with the remaining tumors demonstrating g.1295250C > T. Approximately one fourth of tumors had TP53 mutations. These findings support the potential utility of a uniform genetic mutation panel to detect bladder cancers of various subtypes.

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KW - Early detection

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Spectrum of genetic mutations in de novo PUNLMP of the urinary bladder

Abstract

Keywords

ASJC Scopus subject areas

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