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@ARTICLE{Jour:147225,
author = {G. Jour and J. Serrano and C. Koelsche and D. T. W.
Jones$^*$ and A. von Deimling and J. Allen and M. Snuderl},
title = {{P}rimary {CNS} {A}lveolar {R}habdomyosarcoma: {I}mportance
of {E}pigenetic and {T}ranscriptomic {A}ssays for {A}ccurate
{D}iagnosis.},
journal = {Journal of neuropathology and experimental neurology},
volume = {78},
number = {11},
issn = {1554-6578},
address = {Philadelphia, Pa. [u.a.]},
publisher = {Lippincott Williams $\&$ Wilkins},
reportid = {DKFZ-2019-02351},
pages = {1073 - 1075},
year = {2019},
abstract = {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.},
cin = {B360 / L101},
ddc = {610},
cid = {I:(DE-He78)B360-20160331 / I:(DE-He78)L101-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:31553442},
doi = {10.1093/jnen/nlz083},
url = {https://inrepo02.dkfz.de/record/147225},
}