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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Published inNPJ precision oncology Vol. 3; no. 1; p. 5
Main Authors 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.
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 15.02.2019
Nature Publishing Group
Subjects
631/67/68
692/4017
692/4028/67/1059/602
692/4028/67/1536
692/4028/67/68
Cancer Research
Case Report
Case reports
Gene Therapy
Genomics
Human Genetics
Internal Medicine
Medicine
Medicine & Public Health
Metastasis
Oncology
Precision medicine
Targeted cancer therapy
Tumors
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Summary: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.
ISSN:2397-768X
2397-768X
DOI:10.1038/s41698-019-0077-2