Research ExplorerPublicationsPrevalence of APC and PTEN Alterations in Urachal Cancer

Prevalence of APC and PTEN Alterations in Urachal Cancer

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Prevalence of APC and PTEN Alterations in Urachal Cancer. / Nagy, Nikolett; Reis, Henning; Hadaschik, Boris; Niedworok, Christian; Módos, Orsolya; Szendrői, Attila; Bíró, Krisztina; Hager, Thomas; Herold, Thomas; Ablat, Jason; Black, Peter C; Okon, Krzysztof; Tolkach, Yuri; Csizmarik, Anita; Oláh, Csilla; Keresztes, David; Bremmer, Felix; Gaisa, Nadine T; Kriegsmann, Joerg; Kovalszky, Ilona; Kiss, András; Tímár, József; Szász, Marcell A; Rink, Michael; Fisch, Margit; Nyirády, Péter; Szarvas, Tibor.

In: PATHOL ONCOL RES, Vol. 26, No. 4, 10.2020, p. 2773-2781.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Nagy, N, Reis, H, Hadaschik, B, Niedworok, C, Módos, O, Szendrői, A, Bíró, K, Hager, T, Herold, T, Ablat, J, Black, PC, Okon, K, Tolkach, Y, Csizmarik, A, Oláh, C, Keresztes, D, Bremmer, F, Gaisa, NT, Kriegsmann, J, Kovalszky, I, Kiss, A, Tímár, J, Szász, MA, Rink, M, Fisch, M, Nyirády, P & Szarvas, T 2020, 'Prevalence of APC and PTEN Alterations in Urachal Cancer', PATHOL ONCOL RES, vol. 26, no. 4, pp. 2773-2781. https://doi.org/10.1007/s12253-020-00872-6

APA

Nagy, N., Reis, H., Hadaschik, B., Niedworok, C., Módos, O., Szendrői, A., Bíró, K., Hager, T., Herold, T., Ablat, J., Black, P. C., Okon, K., Tolkach, Y., Csizmarik, A., Oláh, C., Keresztes, D., Bremmer, F., Gaisa, N. T., Kriegsmann, J., ... Szarvas, T. (2020). Prevalence of APC and PTEN Alterations in Urachal Cancer. PATHOL ONCOL RES, 26(4), 2773-2781. https://doi.org/10.1007/s12253-020-00872-6

Vancouver

Nagy N, Reis H, Hadaschik B, Niedworok C, Módos O, Szendrői A et al. Prevalence of APC and PTEN Alterations in Urachal Cancer. PATHOL ONCOL RES. 2020 Oct;26(4):2773-2781. https://doi.org/10.1007/s12253-020-00872-6

Bibtex

@article{fa80b0f07a8e4026be37ba6f4ad1a791,
title = "Prevalence of APC and PTEN Alterations in Urachal Cancer",
abstract = "Urachal carcinoma (UrC) is a rare tumor with remarkable histological and molecular similarities to colorectal cancer (CRC). Adenomatous polyposis coli (APC) is the most frequently affected gene in CRC, but the prevalence and significance of its alterations in UrC is poorly understood. In addition, loss of phosphatase and tensin homologue (PTEN) was shown to be associated with therapy resistance in CRC. Our primary aim was to assess specific genetic alterations including APC and PTEN in a large series of UrC samples in order to identify clinically significant genomic alterations. We analyzed a total of 40 UrC cases. Targeted 5-gene (APC, PTEN, DICER1, PRKAR1A, TSHR, WRN) panel sequencing was performed on the Illumina MiSeq platform (n = 34). In addition, {\ss}-catenin (n = 38) and PTEN (n = 30) expressions were assessed by immunohistochemistry. APC and PTEN genes were affected in 15% (5/34) and 6% (2/34) of cases. Two of five APC alterations (p.Y1075*, p.K1199*) were truncating pathogenic mutations. One of the two PTEN variants was a pathogenic frameshift insertion (p.C211fs). In 29% (11/38) of samples, at least some weak nuclear {\ss}-catenin immunostaining was detected and PTEN loss was observed in 20% (6/30) of samples. The low prevalence of APC mutations in UrC represents a characteristic difference to CRC. Based on APC and {\ss}-catenin results, the Wnt pathway seems to be rarely affected in UrC. Considering the formerly described involvement of PTEN protein loss in anti-EGFR therapy-resistance its immunohistochemical testing may have therapeutic relevance.",
author = "Nikolett Nagy and Henning Reis and Boris Hadaschik and Christian Niedworok and Orsolya M{\'o}dos and Attila Szendr{\H o}i and Krisztina B{\'i}r{\'o} and Thomas Hager and Thomas Herold and Jason Ablat and Black, {Peter C} and Krzysztof Okon and Yuri Tolkach and Anita Csizmarik and Csilla Ol{\'a}h and David Keresztes and Felix Bremmer and Gaisa, {Nadine T} and Joerg Kriegsmann and Ilona Kovalszky and Andr{\'a}s Kiss and J{\'o}zsef T{\'i}m{\'a}r and Sz{\'a}sz, {Marcell A} and Michael Rink and Margit Fisch and P{\'e}ter Nyir{\'a}dy and Tibor Szarvas",
year = "2020",
month = oct,
doi = "10.1007/s12253-020-00872-6",
language = "English",
volume = "26",
pages = "2773--2781",
journal = "PATHOL ONCOL RES",
issn = "1219-4956",
publisher = "Springer Netherlands",
number = "4",

}

RIS

TY - JOUR

T1 - Prevalence of APC and PTEN Alterations in Urachal Cancer

AU - Nagy, Nikolett

AU - Reis, Henning

AU - Hadaschik, Boris

AU - Niedworok, Christian

AU - Módos, Orsolya

AU - Szendrői, Attila

AU - Bíró, Krisztina

AU - Hager, Thomas

AU - Herold, Thomas

AU - Ablat, Jason

AU - Black, Peter C

AU - Okon, Krzysztof

AU - Tolkach, Yuri

AU - Csizmarik, Anita

AU - Oláh, Csilla

AU - Keresztes, David

AU - Bremmer, Felix

AU - Gaisa, Nadine T

AU - Kriegsmann, Joerg

AU - Kovalszky, Ilona

AU - Kiss, András

AU - Tímár, József

AU - Szász, Marcell A

AU - Rink, Michael

AU - Fisch, Margit

AU - Nyirády, Péter

AU - Szarvas, Tibor

PY - 2020/10

Y1 - 2020/10

N2 - Urachal carcinoma (UrC) is a rare tumor with remarkable histological and molecular similarities to colorectal cancer (CRC). Adenomatous polyposis coli (APC) is the most frequently affected gene in CRC, but the prevalence and significance of its alterations in UrC is poorly understood. In addition, loss of phosphatase and tensin homologue (PTEN) was shown to be associated with therapy resistance in CRC. Our primary aim was to assess specific genetic alterations including APC and PTEN in a large series of UrC samples in order to identify clinically significant genomic alterations. We analyzed a total of 40 UrC cases. Targeted 5-gene (APC, PTEN, DICER1, PRKAR1A, TSHR, WRN) panel sequencing was performed on the Illumina MiSeq platform (n = 34). In addition, ß-catenin (n = 38) and PTEN (n = 30) expressions were assessed by immunohistochemistry. APC and PTEN genes were affected in 15% (5/34) and 6% (2/34) of cases. Two of five APC alterations (p.Y1075*, p.K1199*) were truncating pathogenic mutations. One of the two PTEN variants was a pathogenic frameshift insertion (p.C211fs). In 29% (11/38) of samples, at least some weak nuclear ß-catenin immunostaining was detected and PTEN loss was observed in 20% (6/30) of samples. The low prevalence of APC mutations in UrC represents a characteristic difference to CRC. Based on APC and ß-catenin results, the Wnt pathway seems to be rarely affected in UrC. Considering the formerly described involvement of PTEN protein loss in anti-EGFR therapy-resistance its immunohistochemical testing may have therapeutic relevance.

AB - Urachal carcinoma (UrC) is a rare tumor with remarkable histological and molecular similarities to colorectal cancer (CRC). Adenomatous polyposis coli (APC) is the most frequently affected gene in CRC, but the prevalence and significance of its alterations in UrC is poorly understood. In addition, loss of phosphatase and tensin homologue (PTEN) was shown to be associated with therapy resistance in CRC. Our primary aim was to assess specific genetic alterations including APC and PTEN in a large series of UrC samples in order to identify clinically significant genomic alterations. We analyzed a total of 40 UrC cases. Targeted 5-gene (APC, PTEN, DICER1, PRKAR1A, TSHR, WRN) panel sequencing was performed on the Illumina MiSeq platform (n = 34). In addition, ß-catenin (n = 38) and PTEN (n = 30) expressions were assessed by immunohistochemistry. APC and PTEN genes were affected in 15% (5/34) and 6% (2/34) of cases. Two of five APC alterations (p.Y1075*, p.K1199*) were truncating pathogenic mutations. One of the two PTEN variants was a pathogenic frameshift insertion (p.C211fs). In 29% (11/38) of samples, at least some weak nuclear ß-catenin immunostaining was detected and PTEN loss was observed in 20% (6/30) of samples. The low prevalence of APC mutations in UrC represents a characteristic difference to CRC. Based on APC and ß-catenin results, the Wnt pathway seems to be rarely affected in UrC. Considering the formerly described involvement of PTEN protein loss in anti-EGFR therapy-resistance its immunohistochemical testing may have therapeutic relevance.

U2 - 10.1007/s12253-020-00872-6

DO - 10.1007/s12253-020-00872-6

M3 - SCORING: Journal article

C2 - 32754865

VL - 26

SP - 2773

EP - 2781

JO - PATHOL ONCOL RES

JF - PATHOL ONCOL RES

SN - 1219-4956

IS - 4

ER -