Articles with "internal tandem" as a keyword



EGFR internal tandem duplications in fusion‐negative congenital and neonatal spindle cell tumors

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Published in 2022 at "Genes"

DOI: 10.1002/gcc.23087

Abstract: Next‐generation sequencing (NGS) assays can sensitively detect somatic variation, and increasingly can enable the identification of complex structural rearrangements. A subset of infantile spindle cell sarcomas, particularly congenital mesoblastic nephromas with classic or mixed histology,… read more here.

Keywords: spindle cell; egfr itd; histology; internal tandem ... See more keywords

High-Grade Uterine Sarcoma with BCOR Internal Tandem Duplication Presenting With Total Uterine Inversion

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Published in 2020 at "American Journal of Clinical Pathology"

DOI: 10.1093/ajcp/aqaa161.172

Abstract: Casestudy: High-grade uterine sarcomas are rare mesenchymal tumors in which the underlying genetics of many have been recently elucidated. BCOR internal tandem duplications are present in a subset of high-grade uterine sarcomas. We report a… read more here.

Keywords: grade uterine; internal tandem; bcor internal; high grade ... See more keywords
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Detection and Quantification of FLT3 Internal Tandem Duplication Mutations Do Not Vary Significantly Between Whole Blood and Blast-Enriched Samples.

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Published in 2019 at "American journal of clinical pathology"

DOI: 10.1093/ajcp/aqz166

Abstract: OBJECTIVES Many commonly used FLT3 mutational assay protocols require a tedious blast enrichment step. We investigated whether elimination of this step would still give equivalent results and compared the accuracy of variant allele fraction (VAF)… read more here.

Keywords: blast; blast enriched; flt3 internal; internal tandem ... See more keywords
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Comprehensive review and evaluation of computational methods for identifying FLT3-internal tandem duplication in acute myeloid leukaemia

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Published in 2021 at "Briefings in bioinformatics"

DOI: 10.1093/bib/bbab099

Abstract: Internal tandem duplication (ITD) of FMS-like tyrosine kinase 3 (FLT3-ITD) constitutes an independent indicator of poor prognosis in acute myeloid leukaemia (AML). AML with FLT3-ITD usually presents with poor treatment outcomes, high recurrence rate and… read more here.

Keywords: internal tandem; flt3; tandem duplication; acute myeloid ... See more keywords
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Clear cell sarcomas of the kidney are characterised by BCOR gene abnormalities, including exon 15 internal tandem duplications and BCOR–CCNB3 gene fusion

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Published in 2018 at "Histopathology"

DOI: 10.1111/his.13366

Abstract: Clear cell sarcoma of the kidney (CCSK) is a rare paediatric renal malignant tumour. The majority of CCSKs have internal tandem duplications (ITDs) of the BCOR gene, whereas a minority have the YWHAE–NUTM2 gene fusion.… read more here.

Keywords: bcor gene; internal tandem; clear cell; fusion ... See more keywords
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Quizartinib in the treatment of FLT3-internal-tandem duplication-positive acute myeloid leukemia.

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Published in 2019 at "Future oncology"

DOI: 10.2217/fon-2019-0353

Abstract: Fms-like tyrosine kinase 3 (FLT3) mutations, characterized by an internal-tandem duplication or missense mutations in the tyrosine kinase domain, are observed in a third of patients with newly diagnosed acute myeloid leukemia. FLT3-ITD mutations are… read more here.

Keywords: internal tandem; myeloid leukemia; flt3; tandem duplication ... See more keywords
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Imaging Features with Histopathologic Correlation of CNS High-Grade Neuroepithelial Tumors with a BCOR Internal Tandem Duplication

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Published in 2022 at "American Journal of Neuroradiology"

DOI: 10.3174/ajnr.a7367

Abstract: BACKGROUND AND PURPOSE: A new brain tumor entity occurring in early childhood characterized by a somatic BCL6 corepressor gene internal tandem duplication was recently described. The aim of this study was to describe the radiologic… read more here.

Keywords: imaging features; tumor; internal tandem; tandem duplication ... See more keywords
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Technological Advances: CEBPA and FLT3 Internal Tandem Duplication Mutations Can be Reliably Detected by Next Generation Sequencing

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Published in 2022 at "Genes"

DOI: 10.3390/genes13040630

Abstract: Background: The detection of CEBPA and FLT3 mutations by next generation sequencing (NGS) is challenging due to high GC content and Internal Tandem Duplications (ITDs). Recent advances have been made to surmount these challenges. In… read more here.

Keywords: cebpa flt3; generation sequencing; next generation; chemistry ... See more keywords