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10.1186/s13000-016-0541-z http://scihub22266oqcxt.onion/10.1186/s13000-016-0541-z C5024455!5024455 !27632978     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=27632978 &cmd=llinks): Failed to open stream: HTTP request failed! 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Multiplexed automated digital quantification of fusion transcripts: comparative study with fluorescent in-situ hybridization (FISH) technique in acute leukemia patients |pdf=|usr=}}{{27632978 }} gab.com Text Multiplexed automated digital quantification of fusion transcripts: comparative study with fluorescent in-situ hybridization (FISH) technique in acute leukemia patients JO: Diagn Pathol http://www.kidney.de/pget.php?&tw=1&pmid=27632978 #FOAvip BACKGROUND: The World Health Organization (WHO) classification system defines recurrent chromosomal translocations as the sole diagnostic and prognostic criteria for acute leukemia (AL). These fusion transcripts are pivotal in the pathogenesis of AL. Clinical laboratories universally employ conventional karyotype/FISH to detect these chromosomal translocations, which is complex, labour intensive and lacks multiplexing capacity. Hence, it is imperative to explore and evaluate some newer automated, cost-efficient multiplexed technologies to accommodate the expanding genetic landscape in AL. METHODS: "nCounter® Leukemia fusion gene expression assay" by NanoString was employed to detect various fusion transcripts in a large set samples (n?=?94) utilizing RNA from formalin fixed paraffin embedded (FFPE) diagnostic bone marrow biopsy specimens. This series included AL patients with various recurrent translocations (n?=?49), normal karyotype (n?=?19), or complex karyotype (n?=?21), as well as normal bone marrow samples (n?=?5). Fusion gene expression data were compared with results obtained by conventional karyotype and FISH technology to determine sensitivity/specificity, as well as positive /negative predictive values. RESULTS: Junction probes for PML/RARA; RUNX1-RUNX1T1; BCR/ABL1 showed 100 % sensitivity/specificity. A high degree of correlation was noted for MLL/AF4 (85 sensitivity/100 specificity) and TCF3-PBX1 (75 % sensitivity/100 % specificity) probes. CBFB-MYH11 fusion probes showed moderate sensitivity (57 %) but high specificity (100 %). ETV6/RUNX1 displayed discordance between fusion transcript assay and FISH results as well as rare non-specific binding in AL samples with normal or complex cytogenetics. CONCLUSIONS: Our study presents preliminary data with high correlation between fusion transcript detection by a throughput automated multiplexed platform, compared to conventional karyotype/FISH technique for detection of chromosomal translocations in AL patients. Our preliminary observations, mandates further vast validation studies to explore automated molecular platforms in diagnostic pathology. Twit Text FOAVip Multiplexed automated digital quantification of fusion transcripts: comparative study with fluorescent in-situ hybridization (FISH) technique in acute leukemia patients ????Diagn Pathol http://www.kidney.de/pget.php?&tw=1&pmid=27632978 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27632978 #FOAvip English Wikipedia <ref>{{Cite pmid|27632978 }}</ref> Multiplexed automated digital quantification of fusion transcripts: comparative study with fluorescent in-situ hybridization (FISH) technique in acute leukemia patients #MMPMID27632978 Akhter A ; Mughal MK ; Elyamany G ; Sinclair G ; Azma RZ ; Masir N ; Shuib S ; Rashid-Kolvear F ; Shabani-Rad MT ; Stewart DA ; Mansoor A Diagn Pathol 2016[Sep]; 11 (1 ): 89 PMID27632978 show ga BACKGROUND: The World Health Organization (WHO) classification system defines recurrent chromosomal translocations as the sole diagnostic and prognostic criteria for acute leukemia (AL). These fusion transcripts are pivotal in the pathogenesis of AL. Clinical laboratories universally employ conventional karyotype/FISH to detect these chromosomal translocations, which is complex, labour intensive and lacks multiplexing capacity. Hence, it is imperative to explore and evaluate some newer automated, cost-efficient multiplexed technologies to accommodate the expanding genetic landscape in AL. METHODS: "nCounter® Leukemia fusion gene expression assay" by NanoString was employed to detect various fusion transcripts in a large set samples (n?=?94) utilizing RNA from formalin fixed paraffin embedded (FFPE) diagnostic bone marrow biopsy specimens. This series included AL patients with various recurrent translocations (n?=?49), normal karyotype (n?=?19), or complex karyotype (n?=?21), as well as normal bone marrow samples (n?=?5). Fusion gene expression data were compared with results obtained by conventional karyotype and FISH technology to determine sensitivity/specificity, as well as positive /negative predictive values. RESULTS: Junction probes for PML/RARA; RUNX1-RUNX1T1; BCR/ABL1 showed 100 % sensitivity/specificity. A high degree of correlation was noted for MLL/AF4 (85 sensitivity/100 specificity) and TCF3-PBX1 (75 % sensitivity/100 % specificity) probes. CBFB-MYH11 fusion probes showed moderate sensitivity (57 %) but high specificity (100 %). ETV6/RUNX1 displayed discordance between fusion transcript assay and FISH results as well as rare non-specific binding in AL samples with normal or complex cytogenetics. CONCLUSIONS: Our study presents preliminary data with high correlation between fusion transcript detection by a throughput automated multiplexed platform, compared to conventional karyotype/FISH technique for detection of chromosomal translocations in AL patients. Our preliminary observations, mandates further vast validation studies to explore automated molecular platforms in diagnostic pathology. |*Gene Fusion [MESH] |*In Situ Hybridization, Fluorescence [MESH] |*Multiplex Polymerase Chain Reaction [MESH] |*Translocation, Genetic [MESH] |Adolescent [MESH] |Adult [MESH] |Aged [MESH] |Aged, 80 and over [MESH] |Automation, Laboratory [MESH] |Biomarkers, Tumor/*genetics [MESH] |Biopsy [MESH] |Bone Marrow Examination [MESH] |Child [MESH] |Child, Preschool [MESH] |Female [MESH] |High-Throughput Nucleotide Sequencing [MESH] |Humans [MESH] |Karyotyping [MESH] |Leukemia, Myeloid, Acute/diagnosis/*genetics [MESH] |Male [MESH] |Middle Aged [MESH] |Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis/*genetics [MESH] |Predictive Value of Tests [MESH] |RNA, Messenger/*genetics [MESH] |Reproducibility of Results [MESH]Multiplexed automated digital quantification of fusion transcripts: co(epmc).pdf DeepDyve Pubget Overpricing