TY  - JOUR
AU  - Jour, George
AU  - Serrano, Jonathan
AU  - Koelsche, Christian
AU  - Jones, David T W
AU  - von Deimling, Andreas
AU  - Allen, Jeffrey
AU  - Snuderl, Matija
TI  - Primary CNS Alveolar Rhabdomyosarcoma: Importance of Epigenetic and Transcriptomic Assays for Accurate Diagnosis.
JO  - Journal of neuropathology and experimental neurology
VL  - 78
IS  - 11
SN  - 1554-6578
CY  - Philadelphia, Pa. [u.a.]
PB  - Lippincott Williams & Wilkins
M1  - DKFZ-2019-02351
SP  - 1073 - 1075
PY  - 2019
AB  - We present the case of a 22-year-old woman who developed increasing headaches, nausea, and vomiting. Imaging identified a 3 × 3 cm heterogeneously enhancing cystic mass in the posterior III ventricular/pineal region. Pathology review of the initial lesion revealed a highly malignant spindle cell neoplasm composed of round to mostly oval elongated cells with relatively small amounts of cytoplasm arranged in sheets and fascicles with focal storiform pattern. Whole genome methylation analysis through unsupervised clustering with data generated from other primary intracranial tumors and peripheral sarcomas was performed at the German Cancer Research Center (DKFZ) and classified the tumor with the group of alveolar rhabdomyosarcomas (ARMS). Further RNA sequencing revealed an in frame PAX3 (EX 7)-NCOA2 (EX12) fusion confirming the diagnosis. This is the first evidence of occurrence of PAX3-NCOA2 in primary CNS ARMS.
LB  - PUB:(DE-HGF)16
C6  - pmid:31553442
DO  - DOI:10.1093/jnen/nlz083
UR  - https://inrepo02.dkfz.de/record/147225
ER  -