Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma
نویسندگان
چکیده
منابع مشابه
Internal deletion of BCOR reveals a tumor suppressor function for BCOR in T lymphocyte malignancies
Recurrent inactivating mutations have been identified in various hematological malignancies in the X-linked BCOR gene encoding BCL6 corepressor (BCOR); however, its tumor suppressor function remains largely uncharacterized. We generated mice missing Bcor exon 4, expressing a variant BCOR lacking the BCL6-binding domain. Although the deletion of exon 4 in male mice (BcorΔE4/y ) compromised the r...
متن کاملRecurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney
The X-linked BCL-6 co-repressor (BCOR) gene encodes a key constituent of a variant polycomb repressive complex (PRC) that is mutated or translocated in human cancers. Here we report on the identification of somatic internal tandem duplications (ITDs) clustering in the C terminus of BCOR in 23 of 27 (85%) pediatric clear cell sarcomas of the kidney (CCSK) from two independent cohorts. We profile...
متن کاملWhole transcriptome sequencing identifies BCOR internal tandem duplication as a common feature of clear cell sarcoma of the kidney.
PURPOSE Clear cell sarcoma of the kidney (CCSK) is a rare pediatric renal tumor that is frequently difficult to distinguish among other childhood renal tumors due to its histological heterogeneity. This work evaluates genetic abnormalities carried by a series of CCSK samples by whole transcriptome sequencing (WTS), to identify molecular biomarkers that could improve the diagnostic process. ME...
متن کاملA cooperative approach to diagnosis of rare diseases: primitive myxoid mesenchymal tumor of infancy.
Primitive Myxoid Mesenchymal Tumor of Infancy (PMMTI) is a recently recognized locally aggressive myofibroblastic tumor. It is a low- to intermediate-grade fibroblastic malignancy with a high local recurrence rate but low metastatic potential and is composed of primitive spindled cells in a myxoid background. We present the eleventh reported case of PMMTI, occurring in the sinonasal tract of a ...
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ژورنال
عنوان ژورنال: Modern Pathology
سال: 2017
ISSN: 0893-3952,1530-0285
DOI: 10.1038/modpathol.2017.12