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Mutations in genes encoding PI3K-AKT and MAPK signaling define anogenital papillary hidradenoma

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Mutations in genes encoding PI3K-AKT and MAPK signaling define anogenital papillary hidradenoma. / Pfarr, Nicole; Sinn, Hans-Peter; Klauschen, Frederick; Flechtenmacher, Christa; Bockmayr, Michael; Ridinger, Kathrin; von Winterfeld, Moritz; Warth, Arne; Lorenz, Katja; Budczies, Jan; Penzel, Roland; Lennerz, Jochen K; Endris, Volker; Weichert, Wilko; Stenzinger, Albrecht.

In: GENE CHROMOSOME CANC, Vol. 55, No. 2, 02.2016, p. 113-9.

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

Harvard

Pfarr, N, Sinn, H-P, Klauschen, F, Flechtenmacher, C, Bockmayr, M, Ridinger, K, von Winterfeld, M, Warth, A, Lorenz, K, Budczies, J, Penzel, R, Lennerz, JK, Endris, V, Weichert, W & Stenzinger, A 2016, 'Mutations in genes encoding PI3K-AKT and MAPK signaling define anogenital papillary hidradenoma', GENE CHROMOSOME CANC, vol. 55, no. 2, pp. 113-9. https://doi.org/10.1002/gcc.22315

APA

Pfarr, N., Sinn, H-P., Klauschen, F., Flechtenmacher, C., Bockmayr, M., Ridinger, K., von Winterfeld, M., Warth, A., Lorenz, K., Budczies, J., Penzel, R., Lennerz, J. K., Endris, V., Weichert, W., & Stenzinger, A. (2016). Mutations in genes encoding PI3K-AKT and MAPK signaling define anogenital papillary hidradenoma. GENE CHROMOSOME CANC, 55(2), 113-9. https://doi.org/10.1002/gcc.22315

Vancouver

Pfarr N, Sinn H-P, Klauschen F, Flechtenmacher C, Bockmayr M, Ridinger K et al. Mutations in genes encoding PI3K-AKT and MAPK signaling define anogenital papillary hidradenoma. GENE CHROMOSOME CANC. 2016 Feb;55(2):113-9. https://doi.org/10.1002/gcc.22315

Bibtex

@article{e14fbf9b30284bd9bd2a0e1ec43b1e47,
title = "Mutations in genes encoding PI3K-AKT and MAPK signaling define anogenital papillary hidradenoma",
abstract = "Papillary hidradenoma (a.k.a. hidradenoma papilliferum) is a benign tumor of the anogenital region that almost exclusively arises in middle-aged Caucasian women. These tumors may recur and rare cases of malignant development have been reported. The genetic basis of papillary hidradenoma is currently unknown. Hence, we employed targeted high-coverage next generation sequencing interrogating 50 cancer-related genes and conventional Sanger sequencing to investigate the mutational landscape in a cohort of 15 cases. Additionally, we analyzed the HPV status of these tumors. Thirteen cases (87%) harbored mutations in cancer-related genes. Recurrent mutations in PIK3CA and AKT1 were present in 10 of the cases (67%). One PIK3CA mutated case had a concomitant STK11 mutation. Three cases harbored mutually exclusive mutations in BRAF, APC and ERBB4. The remaining two cases showed no mutations. None of the cases harbored DNA of human papilloma virus. Our results also provide evidence that--just as BRAF V600E mutations in hyperplastic polyps and benign nevi- a mutated driver gene does not imply malignant behavior per se but may set the basis for malignant transformation. The latter point may explain why rare cases of papillary hidradenoma have been reported to take a malignant course. Lastly, our genetic data may suggest treatment avenues beyond conventional surgery for some of these tumors.",
keywords = "Acrospiroma, Adult, Aged, Anus Neoplasms, Female, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, MAP Kinase Signaling System, Middle Aged, Mutation, Phosphatidylinositol 3-Kinases, Protein-Serine-Threonine Kinases, Proto-Oncogene Proteins B-raf, Proto-Oncogene Proteins c-akt, Vulvar Neoplasms, Journal Article, Research Support, Non-U.S. Gov't",
author = "Nicole Pfarr and Hans-Peter Sinn and Frederick Klauschen and Christa Flechtenmacher and Michael Bockmayr and Kathrin Ridinger and {von Winterfeld}, Moritz and Arne Warth and Katja Lorenz and Jan Budczies and Roland Penzel and Lennerz, {Jochen K} and Volker Endris and Wilko Weichert and Albrecht Stenzinger",
note = "{\textcopyright} 2015 Wiley Periodicals, Inc.",
year = "2016",
month = feb,
doi = "10.1002/gcc.22315",
language = "English",
volume = "55",
pages = "113--9",
journal = "GENE CHROMOSOME CANC",
issn = "1045-2257",
publisher = "Wiley-Liss Inc.",
number = "2",

}

RIS

TY - JOUR

T1 - Mutations in genes encoding PI3K-AKT and MAPK signaling define anogenital papillary hidradenoma

AU - Pfarr, Nicole

AU - Sinn, Hans-Peter

AU - Klauschen, Frederick

AU - Flechtenmacher, Christa

AU - Bockmayr, Michael

AU - Ridinger, Kathrin

AU - von Winterfeld, Moritz

AU - Warth, Arne

AU - Lorenz, Katja

AU - Budczies, Jan

AU - Penzel, Roland

AU - Lennerz, Jochen K

AU - Endris, Volker

AU - Weichert, Wilko

AU - Stenzinger, Albrecht

N1 - © 2015 Wiley Periodicals, Inc.

PY - 2016/2

Y1 - 2016/2

N2 - Papillary hidradenoma (a.k.a. hidradenoma papilliferum) is a benign tumor of the anogenital region that almost exclusively arises in middle-aged Caucasian women. These tumors may recur and rare cases of malignant development have been reported. The genetic basis of papillary hidradenoma is currently unknown. Hence, we employed targeted high-coverage next generation sequencing interrogating 50 cancer-related genes and conventional Sanger sequencing to investigate the mutational landscape in a cohort of 15 cases. Additionally, we analyzed the HPV status of these tumors. Thirteen cases (87%) harbored mutations in cancer-related genes. Recurrent mutations in PIK3CA and AKT1 were present in 10 of the cases (67%). One PIK3CA mutated case had a concomitant STK11 mutation. Three cases harbored mutually exclusive mutations in BRAF, APC and ERBB4. The remaining two cases showed no mutations. None of the cases harbored DNA of human papilloma virus. Our results also provide evidence that--just as BRAF V600E mutations in hyperplastic polyps and benign nevi- a mutated driver gene does not imply malignant behavior per se but may set the basis for malignant transformation. The latter point may explain why rare cases of papillary hidradenoma have been reported to take a malignant course. Lastly, our genetic data may suggest treatment avenues beyond conventional surgery for some of these tumors.

AB - Papillary hidradenoma (a.k.a. hidradenoma papilliferum) is a benign tumor of the anogenital region that almost exclusively arises in middle-aged Caucasian women. These tumors may recur and rare cases of malignant development have been reported. The genetic basis of papillary hidradenoma is currently unknown. Hence, we employed targeted high-coverage next generation sequencing interrogating 50 cancer-related genes and conventional Sanger sequencing to investigate the mutational landscape in a cohort of 15 cases. Additionally, we analyzed the HPV status of these tumors. Thirteen cases (87%) harbored mutations in cancer-related genes. Recurrent mutations in PIK3CA and AKT1 were present in 10 of the cases (67%). One PIK3CA mutated case had a concomitant STK11 mutation. Three cases harbored mutually exclusive mutations in BRAF, APC and ERBB4. The remaining two cases showed no mutations. None of the cases harbored DNA of human papilloma virus. Our results also provide evidence that--just as BRAF V600E mutations in hyperplastic polyps and benign nevi- a mutated driver gene does not imply malignant behavior per se but may set the basis for malignant transformation. The latter point may explain why rare cases of papillary hidradenoma have been reported to take a malignant course. Lastly, our genetic data may suggest treatment avenues beyond conventional surgery for some of these tumors.

KW - Acrospiroma

KW - Adult

KW - Aged

KW - Anus Neoplasms

KW - Female

KW - Genetic Predisposition to Disease

KW - High-Throughput Nucleotide Sequencing

KW - Humans

KW - MAP Kinase Signaling System

KW - Middle Aged

KW - Mutation

KW - Phosphatidylinositol 3-Kinases

KW - Protein-Serine-Threonine Kinases

KW - Proto-Oncogene Proteins B-raf

KW - Proto-Oncogene Proteins c-akt

KW - Vulvar Neoplasms

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1002/gcc.22315

DO - 10.1002/gcc.22315

M3 - SCORING: Journal article

C2 - 26493284

VL - 55

SP - 113

EP - 119

JO - GENE CHROMOSOME CANC

JF - GENE CHROMOSOME CANC

SN - 1045-2257

IS - 2

ER -