Genomic landscape of a metastatic malignant proliferating tricholemmal tumor and its response to PI3K inhibition

Proliferating tricholemmal tumors (PTTs) are rare benign neoplasms that arise from the outer sheath of a hair follicle. Occasionally, these PTTs undergo malignant transformation to become malignant proliferating tricholemmal tumors (MPTTs). Little is known about the molecular alterations, malignant...

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Autores principales: Gallant, Jean-Nicolas, Sewell, Andrew, Almodovar, Karinna, Wang, Qingguo, Dahlman, Kimberly B., Abramson, Richard G., Kapp, Meghan E., Brown, Brandee T., Boyd, Kelli L., Gilbert, Jill, Cohen, Daniel N., Yarbrough, Wendell G., Zhao, Zhongming, Lovly, Christine M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377617/
https://www.ncbi.nlm.nih.gov/pubmed/30793038
http://dx.doi.org/10.1038/s41698-019-0077-2
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author Gallant, Jean-Nicolas
Sewell, Andrew
Almodovar, Karinna
Wang, Qingguo
Dahlman, Kimberly B.
Abramson, Richard G.
Kapp, Meghan E.
Brown, Brandee T.
Boyd, Kelli L.
Gilbert, Jill
Cohen, Daniel N.
Yarbrough, Wendell G.
Zhao, Zhongming
Lovly, Christine M.
author_facet Gallant, Jean-Nicolas
Sewell, Andrew
Almodovar, Karinna
Wang, Qingguo
Dahlman, Kimberly B.
Abramson, Richard G.
Kapp, Meghan E.
Brown, Brandee T.
Boyd, Kelli L.
Gilbert, Jill
Cohen, Daniel N.
Yarbrough, Wendell G.
Zhao, Zhongming
Lovly, Christine M.
author_sort Gallant, Jean-Nicolas
collection PubMed
description Proliferating tricholemmal tumors (PTTs) are rare benign neoplasms that arise from the outer sheath of a hair follicle. Occasionally, these PTTs undergo malignant transformation to become malignant proliferating tricholemmal tumors (MPTTs). Little is known about the molecular alterations, malignant progression, and management of MPTTs. Here, we describe the case of a 58-year-old female that had a widely metastatic MPTT that harbored an activating PIK3CA mutation and was sensitive to the PI3K inhibitor, alpelisib (BYL719). We review the available literature on metastatic MPTT, detail the patient’s course, and present a whole genome analysis of this rare tumor.
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spelling pubmed-63776172019-02-21 Genomic landscape of a metastatic malignant proliferating tricholemmal tumor and its response to PI3K inhibition Gallant, Jean-Nicolas Sewell, Andrew Almodovar, Karinna Wang, Qingguo Dahlman, Kimberly B. Abramson, Richard G. Kapp, Meghan E. Brown, Brandee T. Boyd, Kelli L. Gilbert, Jill Cohen, Daniel N. Yarbrough, Wendell G. Zhao, Zhongming Lovly, Christine M. NPJ Precis Oncol Case Report Proliferating tricholemmal tumors (PTTs) are rare benign neoplasms that arise from the outer sheath of a hair follicle. Occasionally, these PTTs undergo malignant transformation to become malignant proliferating tricholemmal tumors (MPTTs). Little is known about the molecular alterations, malignant progression, and management of MPTTs. Here, we describe the case of a 58-year-old female that had a widely metastatic MPTT that harbored an activating PIK3CA mutation and was sensitive to the PI3K inhibitor, alpelisib (BYL719). We review the available literature on metastatic MPTT, detail the patient’s course, and present a whole genome analysis of this rare tumor. Nature Publishing Group UK 2019-02-15 /pmc/articles/PMC6377617/ /pubmed/30793038 http://dx.doi.org/10.1038/s41698-019-0077-2 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Case Report
Gallant, Jean-Nicolas
Sewell, Andrew
Almodovar, Karinna
Wang, Qingguo
Dahlman, Kimberly B.
Abramson, Richard G.
Kapp, Meghan E.
Brown, Brandee T.
Boyd, Kelli L.
Gilbert, Jill
Cohen, Daniel N.
Yarbrough, Wendell G.
Zhao, Zhongming
Lovly, Christine M.
Genomic landscape of a metastatic malignant proliferating tricholemmal tumor and its response to PI3K inhibition
title Genomic landscape of a metastatic malignant proliferating tricholemmal tumor and its response to PI3K inhibition
title_full Genomic landscape of a metastatic malignant proliferating tricholemmal tumor and its response to PI3K inhibition
title_fullStr Genomic landscape of a metastatic malignant proliferating tricholemmal tumor and its response to PI3K inhibition
title_full_unstemmed Genomic landscape of a metastatic malignant proliferating tricholemmal tumor and its response to PI3K inhibition
title_short Genomic landscape of a metastatic malignant proliferating tricholemmal tumor and its response to PI3K inhibition
title_sort genomic landscape of a metastatic malignant proliferating tricholemmal tumor and its response to pi3k inhibition
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377617/
https://www.ncbi.nlm.nih.gov/pubmed/30793038
http://dx.doi.org/10.1038/s41698-019-0077-2
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