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

NPJ Precision Oncology
Jean-Nicolas GallantChristine M Lovly

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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Citations

May 6, 2021·International Journal of Molecular Sciences·Iga PłachtaPiotr Rutkowski
May 24, 2021·Surgical Pathology Clinics·Grace Hile, Paul W Harms
Jul 2, 2021·Histopathology·Jaclyn M PlotzkePaul W Harms

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Methods Mentioned

BETA
dissection
biopsy
PCR

Clinical Trials Mentioned

NCT01219699

Software Mentioned

CASAVA
CREST
Enrichr
SNaPshot
VarScan
Graphpad Prism
SAMtools
MuTect
Functional Analysis Through Hidden Markov Models ( FATHMM )
- FREEC

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