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Genomic landscape of a metastatic malignant proliferating tricholemmal tumor and its response to PI3K inhibition.
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.
Afiliación
  • Gallant JN; Division of Hematology/Oncology, Department of Medicine, Nashville, TN USA.
  • Sewell A; Department of Otolaryngology, Department of Medicine, Nashville, TN USA.
  • Almodovar K; 8Present Address: Division of Otolaryngology, Department of Surgery, Yale School of Medicine, New Heaven, CT USA.
  • Wang Q; Division of Hematology/Oncology, Department of Medicine, Nashville, TN USA.
  • Dahlman KB; Department of Biomedical Informatics, Department of Medicine, Nashville, TN USA.
  • Abramson RG; 9Present Address: Department of Computational Science, Lipscomb University, Nashville, TN USA.
  • Kapp ME; Division of Hematology/Oncology, Department of Medicine, Nashville, TN USA.
  • Brown BT; Department of Radiology and Radiological Sciences, the Department of Medicine, Nashville, TN USA.
  • Boyd KL; Department of Pathology, Microbiology, & Immunology, and the Department of Medicine, Nashville, TN USA.
  • Gilbert J; Department of Otolaryngology, Department of Medicine, Nashville, TN USA.
  • Cohen DN; Department of Pathology, Microbiology, & Immunology, and the Department of Medicine, Nashville, TN USA.
  • Yarbrough WG; Division of Hematology/Oncology, Department of Medicine, Nashville, TN USA.
  • Zhao Z; Department of Pathology, Microbiology, & Immunology, and the Department of Medicine, Nashville, TN USA.
  • Lovly CM; 10Present Address: Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX USA.
NPJ Precis Oncol ; 3: 5, 2019.
Article en En | MEDLINE | ID: mdl-30793038
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.

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: NPJ Precis Oncol Año: 2019 Tipo del documento: Article Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: NPJ Precis Oncol Año: 2019 Tipo del documento: Article Pais de publicación: Reino Unido