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Whole Exome Sequencing of a Patient with Metastatic Hidradenocarcinoma and Review of the Literature

Hidradenocarcinoma is a rare malignancy of the sweat glands with only a few cases reported in literature. The management of these tumors is based on the extent of disease with local disease managed with surgical resection. These can tumors carry a high potential of lymphatic and vascular spread and...

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Autores principales: Gupta, Eva, Guthrie, Kimberly J., Krishna, Murli, Asmann, Yan, Parker, Alexander S., Joseph, Richard W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4387361/
https://www.ncbi.nlm.nih.gov/pubmed/25918615
http://dx.doi.org/10.4081/rt.2015.5719
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author Gupta, Eva
Guthrie, Kimberly J.
Krishna, Murli
Asmann, Yan
Parker, Alexander S.
Joseph, Richard W.
author_facet Gupta, Eva
Guthrie, Kimberly J.
Krishna, Murli
Asmann, Yan
Parker, Alexander S.
Joseph, Richard W.
author_sort Gupta, Eva
collection PubMed
description Hidradenocarcinoma is a rare malignancy of the sweat glands with only a few cases reported in literature. The management of these tumors is based on the extent of disease with local disease managed with surgical resection. These can tumors carry a high potential of lymphatic and vascular spread and local and distant metastases are not uncommon. Given the rarity of the tumor and lack of genetic and clinical data about these tumors, there is no consensus on the proper management of metastatic disease. Here in we report the first case of metastatic hidradenocarcinoma with detailed molecular profiling including whole exome sequencing. We identified mutations in multiple genes including two that are potentially targetable: PTCH1 and TCF7L1. Further work is necessary to not only confirm the presence of these mutations but also to confirm the clinical significance.
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spelling pubmed-43873612015-04-27 Whole Exome Sequencing of a Patient with Metastatic Hidradenocarcinoma and Review of the Literature Gupta, Eva Guthrie, Kimberly J. Krishna, Murli Asmann, Yan Parker, Alexander S. Joseph, Richard W. Rare Tumors Case Report Hidradenocarcinoma is a rare malignancy of the sweat glands with only a few cases reported in literature. The management of these tumors is based on the extent of disease with local disease managed with surgical resection. These can tumors carry a high potential of lymphatic and vascular spread and local and distant metastases are not uncommon. Given the rarity of the tumor and lack of genetic and clinical data about these tumors, there is no consensus on the proper management of metastatic disease. Here in we report the first case of metastatic hidradenocarcinoma with detailed molecular profiling including whole exome sequencing. We identified mutations in multiple genes including two that are potentially targetable: PTCH1 and TCF7L1. Further work is necessary to not only confirm the presence of these mutations but also to confirm the clinical significance. PAGEPress Publications, Pavia, Italy 2015-02-25 /pmc/articles/PMC4387361/ /pubmed/25918615 http://dx.doi.org/10.4081/rt.2015.5719 Text en ©Copyright E. Gupta et al. http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Gupta, Eva
Guthrie, Kimberly J.
Krishna, Murli
Asmann, Yan
Parker, Alexander S.
Joseph, Richard W.
Whole Exome Sequencing of a Patient with Metastatic Hidradenocarcinoma and Review of the Literature
title Whole Exome Sequencing of a Patient with Metastatic Hidradenocarcinoma and Review of the Literature
title_full Whole Exome Sequencing of a Patient with Metastatic Hidradenocarcinoma and Review of the Literature
title_fullStr Whole Exome Sequencing of a Patient with Metastatic Hidradenocarcinoma and Review of the Literature
title_full_unstemmed Whole Exome Sequencing of a Patient with Metastatic Hidradenocarcinoma and Review of the Literature
title_short Whole Exome Sequencing of a Patient with Metastatic Hidradenocarcinoma and Review of the Literature
title_sort whole exome sequencing of a patient with metastatic hidradenocarcinoma and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4387361/
https://www.ncbi.nlm.nih.gov/pubmed/25918615
http://dx.doi.org/10.4081/rt.2015.5719
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