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
Division of Hematology/Oncology, Department of Medicine, Nashville, TN USA.
Department of Otolaryngology, Department of Medicine, Nashville, TN USA.
NPJ Precis Oncol. 2019 Feb 15;3:5. doi: 10.1038/s41698-019-0077-2. eCollection 2019.
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 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.
增殖性外毛根鞘瘤（PTT）是起源于毛囊外鞘的罕见良性肿瘤。这些PTT偶尔会发生恶性转化，成为恶性增殖性外毛根鞘瘤（MPTT）。关于MPTT的分子改变、恶性进展及治疗知之甚少。在此，我们描述了一例58岁女性患者，其患有广泛转移的MPTT，该肿瘤存在一个激活突变，且对PI3K抑制剂阿培利司（BYL719）敏感。我们回顾了关于转移性MPTT的现有文献，详述了患者的病程，并展示了对这种罕见肿瘤的全基因组分析。
