Methylation profiling-based diagnosis of radiologically suspected congenital glioma
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LETTER TO THE EDITOR
Methylation profiling‑based diagnosis of radiologically suspected congenital glioma Konstantin Bräutigam1 · Eike Piechowiak2 · Nedelina Slavova2,4 · Beatrice Mosimann3 · Doron Merkler5,7 · Kristof Egervari5,7 · Ekkehard Hewer6 Received: 10 September 2020 / Accepted: 5 October 2020 © The Japan Society of Brain Tumor Pathology 2020
Congenital brain tumors are rare [1, 2] and have a poor prognosis [3, 4]. Prenatal diagnosis is challenging. Several genetic alterations have been described in these tumors, with fusion events involving MET, ALK, ROS1, or NTRK family genes being the most prominent ones [2]. Genome-wide DNA methylation profiling has recently emerged as a novel and powerful tool for classification of central nervous system (CNS) tumors, including cases with ambiguous morphology [5]. Moreover, methylation profiling is considered a robust and fast method [6], which has facilitated its widespread clinical application. In this brief report, we present our experience with a case of a congenital brain tumor diagnosed by combining radiology, histopathology and methylation profiling. A 30-year-old gravida 2 para 1 with previous vaginal delivery at term after an uneventful pregnancy was referred to the department of ultrasound and prenatal diagnostics of our tertiary university hospital at 28 weeks and 3 days * Konstantin Bräutigam [email protected] 1
Institute of Pathology, University of Bern, Murtenstrasse 31, 3008 Bern, Switzerland
2
University Institute of Diagnostic and Interventional Neuroradiology, University Hospital Bern, Inselspital, University of Bern, Bern, Switzerland
3
Department of Obstetrics and Gynecology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
4
Department of Diagnostic, Interventional and Pediatric Radiology (DIPR), Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
5
Departement de Pathologie et Immunologie, Centre Medical Universitaire, University of Geneva, 1211 Geneva, Switzerland
6
Institute of Pathology, University Hospital and University of Lausanne, Lausanne, Switzerland
7
Division of Clinical Pathology, Geneva University Hospital, 1211 Geneva, Switzerland
of gestation due to suspected fetal cerebral anomalies. We diagnosed a large inhomogeneous mass in the left fetal hemisphere, which caused a midline shift and a severe ventricular dilation on the contralateral side. The posterior fossa was difficult to visualize and no normal cerebellar or cisterna magna anatomy could be demonstrated, a finding we interpreted either as a compression effect or due to the lesion originating in the posterior fossa. The mass also caused a macrocephaly with a fetal head circumference of 33 cm at 29 weeks (> 99%ile). We suspected a severe cerebral hemorrhage of unknown origin, and a fetal alloimmune thrombocytopenia (FAIT) was ruled out. The subsequent maternal MRI showed a large inhomogeneous mass in the left hemisphere with signs of possible small-volume hemorrhages and
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