Article
Paediatric BCOR-associated sarcomas with a novel long spliced internal tandem duplication of BCOR exon 15.
The journal of pathology. Clinical research - 1 Sept 2022
Goh Jian Yuan, Kuick Chik Hong, Sugiura Masahiro, Aw Sze Jet, Zhao Manli, Tang Hongfeng, Gunaratne Sandini, Zhu Fucun, Cai Lin, Teh Bin Tean, Thorner Paul S, Chang Kenneth Tou En
Abstract excerpt
Clear cell sarcoma of the kidney (CCSK) and primitive myxoid mesenchymal tumour of infancy (PMMTI) are paediatric sarcomas that most commonly harbour internal tandem duplications (ITDs) of exon 15 of the BCOR gene, in the range of 87-114 base pairs (bp). Some cases, instead, have BCOR-CCNB3 or YWHAE-NUTM2 gene fusions. About 10% of cases lack any of these genetic alterations when tested by standard methods. Two...
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