Comparative molecular analysis of primary and recurrent oligodendroglioma that acquired imbalanced 1p/19q codeletion and

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CASE REPORT - TUMOR - GLIOMA

Comparative molecular analysis of primary and recurrent oligodendroglioma that acquired imbalanced 1p/19q codeletion and TP53 mutation: a case report Takahiro Ono 1 & Annekathrin Reinhardt 2 & Masataka Takahashi 1 & Hiroshi Nanjo 3 & Akihisa Kamataki 4 & Andreas von Deimling 2 & Hiroaki Shimizu 1 Received: 9 July 2020 / Accepted: 30 July 2020 # Springer-Verlag GmbH Austria, part of Springer Nature 2020

Abstract Oligodendroglioma is defined by IDH mutation and 1p/19q codeletion. Normal TP53 status is also its molecular feature. We report a case of oligodendroglioma that acquired imbalanced 1p/19q codeletion and TP53 mutation at recurrence after temozolomide therapy. The primary and recurrent tumors shared IDH1 and TERT promoter mutations. Although 1p/19q was codeleted in the primary tumor, it was imbalanced in the recurrent tumor harboring TP53 mutation. The copy-neutral loss of heterozygosity might have imbalanced the 1p/19q codeletion, while temozolomide therapy possibly caused the TP53 mutation. Such phenomena, although rare, should be noted during the clinical treatment of oligodendrogliomas. Keywords Case report . Oligodendroglioma . 1p/19q codeletion . Methylation profile . TP53 mutation . Copy-neutral loss of heterozygosity

Introduction Oligodendroglioma (OG), accounting for approximately 6– 20% of all adult diffuse gliomas, is defined by IDH mutation and combined loss of the whole chromosomal arms 1p and 19q (1p/19q codeletion) [11, 15]. Mutations in TERT promoter (TERTp), normal status of ATRX, and TP53 are also recognized as molecular features of OG [2, 4, 8, 12, 14, 17]. We present a unique case of OG with imbalanced 1p/19q codeletion and TP53 mutation, verified by comparing the This article is part of the Topical Collection on Tumor - Glioma * Takahiro Ono [email protected] 1

Department of Neurosurgery, Akita University Graduate School of Medicine, 1-1-1, Hondo, Akita, Akita 010-8543, Japan

2

Department for Neuropathology and CCU Neuropathology, University of Heidelberg and DKFZ, Im Neuenheimer Feld 224, 69120 Heidelberg, Germany

3

Department of Clinical Pathology, Akita University Hospital, 1-1-1, Hondo, Akita, Akita 010-8543, Japan

4

Department of Anatomic Pathology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori 036-8562, Japan

primary and recurrent tumors. Though the findings of this case are conflicting with the current diagnostic criteria, it can contribute to the current understanding of OG characteristics.

Case study Clinical course A 37-year-old woman who had no notable medical, family, and psycho-social history presented with tonic-clonic convulsions. Magnetic resonance imaging (MRI) at a local hospital revealed a T2-hyper intense lesion in the right frontal lobe (Fig. 1a). The patient received surgical treatment at the hospital; postoperative MRI revealed partial resection of the T2hyper intense lesion. The pathological diagnosis was oligodendroglioma WHO grade II (OG II). The patient recovered without any neurologi