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NPJ Precis Oncol. 2019 Feb 15;3:5. doi: 10.1038/s41698-019-0077-2. eCollection 2019.

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

Author information

1
Division of Hematology/Oncology, Department of Medicine, Nashville, TN USA.
2
Department of Otolaryngology, Department of Medicine, Nashville, TN USA.
3
8Present Address: Division of Otolaryngology, Department of Surgery, Yale School of Medicine, New Heaven, CT USA.
4
Department of Biomedical Informatics, Department of Medicine, Nashville, TN USA.
5
9Present Address: Department of Computational Science, Lipscomb University, Nashville, TN USA.
6
Department of Radiology and Radiological Sciences, the Department of Medicine, Nashville, TN USA.
7
Department of Pathology, Microbiology, & Immunology, and the Department of Medicine, Nashville, TN USA.
8
10Present Address: Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX USA.
9
6Department of Pathology, Yale School of Medicine, New Heaven, CT USA.
10
7Vanderbilt Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN USA.
11
11Present Address: The Center for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX USA.
#
Contributed equally

Abstract

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.

Conflict of interest statement

KBD has received consulting fees from Kadmon and was an invited speaker for Illumina. RGA has receivedconsulting fees from Icon Medical Imaging and GI Reviewers LLC. WGY serves as a consultant for Olympus. CML has served as a consultant for Pfizer, Astra Zeneca, Novartis, Genoptix, Sequenom, Clovis, ARIAD,Takeda, Blueprints Medicine, and Foundation Medicine; an invited speaker for Abbott and Qiagen; and has received research funding (to her university) from Novartis, Astra Zeneca, and Xcovery.

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