Junji Hosono1, Masayuki Nitta2, Kenta Masui3, Takashi Maruyama1, Takashi Komori4, Hideaki Yokoo5, Taiichi Saito1, Yoshihiro Muragaki6, Takakazu Kawamata1. 1. Department of Neurosurgery, Tokyo Women's Medical University, Shinjuku-ku, Tokyo. 2. Department of Neurosurgery, Tokyo Women's Medical University, Shinjuku-ku, Tokyo. Electronic address: nitta.masayuki@twmu.ac.jp. 3. Department of Pathology, Tokyo Women's Medical University, Shinjuku-ku, Tokyo. 4. Department of Laboratory Medicine and Pathology (Neuropathology), Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo. 5. Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan. 6. Department of Neurosurgery, Tokyo Women's Medical University, Shinjuku-ku, Tokyo; Faculty of Advanced Techno-Surgery, Graduate School of Medicine, Tokyo Women's Medical University, Shinjuku-ku, Tokyo.
Abstract
BACKGROUND: Pleomorphic xanthoastrocytoma (PXA) is categorized as grade II, other astrocytic tumors per the 2016 World Health Organization classification. Despite being a relatively benign type of tumor, PXA often has an aggressive clinical course. The more malignant form of PXA is now known as anaplastic pleomorphic xanthoastrocytoma (A-PXA) and is categorized as a grade III tumor. Clinical and genetic factors associated with malignant transformation remain unclear. In particular, typical genetic expression patterns in PXA and A-PXA remain unidentified. CASE DESCRIPTION: We present a case of recurrent PXA in which malignant transformation followed a promoter mutation in TERT. In this case, genetic chronologic changes accompanying malignant transformation of PXA were thoroughly examined. The promoter mutation was detected in the second operative specimen after stereotactic radiosurgery (SRS) at the first tumor recurrence. Subsequently, a malignant transformation to the A-PXA occurred at the time of the second recurrence, and the tumor repeatedly recurred afterward. CONCLUSIONS: TERT promotor mutations may contribute to the malignant transformation of PXA; the mechanism of this mutation is unknown, but it may have been caused by SRS. Therefore, improvident use of radiation should be avoided to prevent the malignant transformation of PXA.
BACKGROUND: Pleomorphic xanthoastrocytoma (PXA) is categorized as grade II, other astrocytic tumors per the 2016 World Health Organization classification. Despite being a relatively benign type of tumor, PXA often has an aggressive clinical course. The more malignant form of PXA is now known as anaplastic pleomorphic xanthoastrocytoma (A-PXA) and is categorized as a grade III tumor. Clinical and genetic factors associated with malignant transformation remain unclear. In particular, typical genetic expression patterns in PXA and A-PXA remain unidentified. CASE DESCRIPTION: We present a case of recurrent PXA in which malignant transformation followed a promoter mutation in TERT. In this case, genetic chronologic changes accompanying malignant transformation of PXA were thoroughly examined. The promoter mutation was detected in the second operative specimen after stereotactic radiosurgery (SRS) at the first tumor recurrence. Subsequently, a malignant transformation to the A-PXA occurred at the time of the second recurrence, and the tumor repeatedly recurred afterward. CONCLUSIONS:TERT promotor mutations may contribute to the malignant transformation of PXA; the mechanism of this mutation is unknown, but it may have been caused by SRS. Therefore, improvident use of radiation should be avoided to prevent the malignant transformation of PXA.
Authors: Azadeh Ebrahimi; Andrey Korshunov; Guido Reifenberger; David Capper; Joerg Felsberg; Elena Trisolini; Bianca Pollo; Chiara Calatozzolo; Marco Prinz; Ori Staszewski; Leonille Schweizer; Jens Schittenhelm; Patrick N Harter; Werner Paulus; Christian Thomas; Patricia Kohlhof-Meinecke; Marcel Seiz-Rosenhagen; Till Milde; Belén M Casalini; Abigail Suwala; Annika K Wefers; Annekathrin Reinhardt; Philipp Sievers; Christof M Kramm; Nima Etminam; Andreas Unterberg; Wolfgang Wick; Christel Herold-Mende; Dominik Sturm; Stefan M Pfister; Martin Sill; David T W Jones; Daniel Schrimpf; David E Reuss; Ken Aldape; Zied Abdullaev; Felix Sahm; Andreas von Deimling; Damian Stichel Journal: Acta Neuropathol Commun Date: 2022-01-10 Impact factor: 7.801
Authors: Beatrice Detti; Silvia Scoccianti; Virginia Maragna; Sara Lucidi; Michele Ganovelli; Maria Ausilia Teriaca; Saverio Caini; Isacco Desideri; Benedetta Agresti; Daniela Greto; Anna Maria Buccoliero; Alessandro Della Puppa; Iacopo Sardi; Lorenzo Livi Journal: Radiol Med Date: 2022-08-11 Impact factor: 6.313