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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Detalles Bibliográficos
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
Descripción
Sumario: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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