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Genomic landscape of a metastatic malignant proliferating tricholemmal tumor and
its response to PI3K inhibition.
Authors Gallant JN, Sewell A, Almodovar K, Wang Q, Dahlman KB, Abramson RG, Kapp ME,
Brown BT, Boyd KL, Gilbert J, Cohen DN, Yarbrough WG, Zhao Z, Lovly CM
Submitted By Submitted Externally on 2/28/2019
Status Published
Journal NPJ precision oncology
Year 2019
Date Published
Volume : Pages 3 : 5
PubMed Reference 30793038
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.


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