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Title:

Novel BCOR-MAML3 and ZC3H7B-BCOR Gene Fusions in Undifferentiated Small Blue Round Cell Sarcomas.

Document type:
Journal Article
Author(s):
Specht, Katja; Zhang, Lei; Sung, Yun-Shao; Nucci, Marisa; Dry, Sarah; Vaiyapuri, Sumathi; Richter, Günther H S; Fletcher, Christopher D M; Antonescu, Cristina R
Abstract:
Small blue round cell tumors (SBRCTs) are a heterogenous group of tumors that are difficult to diagnose because of overlapping morphologic, immunohistochemical, and clinical features. About two-thirds of EWSR1-negative SBRCTs are associated with CIC-DUX4-related fusions, whereas another small subset shows BCOR-CCNB3 X-chromosomal paracentric inversion. Applying paired-end RNA sequencing to an SBRCT index case of a 44-year-old man, we identified a novel BCOR-MAML3 chimeric fusion, which was valid...     »
Journal title abbreviation:
Am J Surg Pathol
Year:
2016
Journal volume:
40
Journal issue:
4
Pages contribution:
433-42
Language:
eng
Fulltext / DOI:
doi:10.1097/PAS.0000000000000591
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/26752546
Print-ISSN:
0147-5185
TUM Institution:
Institut für Allgemeine Pathologie und Pathologische Anatomie; Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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