Mutational profiling in suspected triple-negative essential thrombocythaemia using targeted next-generation sequencing in a real-world cohort

Autor: Mary Frances McMullin, Patrick McCallion, Roisin McAllister, Robert J. G. Cuthbert, Julie McGimpsey, Andrew Hindley, Olga Michail, Nicholas C.P. Cross, Graeme Greenfield, John Feerick, Claire Arnold, Mark Catherwood

Publikováno v: Michail, O, McCallion, P, McGimpsey, J, Hindley, A, Greenfield, G, Feerick, J, Arnold, C, Cross, N, Cuthbert, R, McMullin, M F & Catherwood, M A 2020, ' Mutational profiling in suspected triple-negative essential thrombocythaemia using targeted next-generation sequencing in a real-world cohort ', Journal of Clinical Pathology . https://doi.org/10.1136/jclinpath-2020-206570

Essential thrombocythaemia (ET) is driven by somatic mutations involving the JAK2, CALR and MPL genes. Approximately 10% of patients lack driver mutations and are referred as ‘triple-negative’ ET (TN-ET). The diagnosis of TN-ET, however, relies o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::366eccd761cc2ee2f1507e66fd2cce27
https://pure.qub.ac.uk/en/publications/mutational-profiling-in-suspected-triplenegative-essential-thrombocythaemia-using-targeted-nextgeneration-sequencing-in-a-realworld-cohort(19570fa7-5833-4742-ade0-a2c0e529570f).html

Response to Imatinib therapy is inferior for e13a2 BCR-ABL1 transcript type in comparison to e14a2 transcript type in chronic myeloid leukaemia

Autor: Mary Frances McMullin, Mark Catherwood, Graeme Greenfield, Ross McMullan, Julie McGimpsey, Nuala Robson

Publikováno v: Greenfield, G, McMullan, R, Robson, N, McGimpsey, J, Catherwood, M & McMullin, M F 2019, ' Response to Imatinib therapy is inferior for e13a2 BCR-ABL1 transcript type in comparison to e14a2 transcript type in chronic myeloid leukaemia ', EMJ Hematology, vol. 19, pp. 7 . https://doi.org/10.1186/s12878-019-0139-2

Background: The BCR-ABL1 fusion gene underlying the pathogenesis of CML can arise from a variety of breakpoints. The e13a2 and e14a2 transcripts formed by breakpoints occurring around exon 13 and exon 14 of the BCR gene respectively are the most comm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f95572ad1db7e9fa48c7a8fbde407cd0
https://pure.qub.ac.uk/en/publications/c001a958-0796-4f01-8806-ce7c7c02ef55

Acute promyelocytic leukaemia (APML) with cryptic PML-RARA fusion has a clinical course comparable to classical APML with t(15;17)(q24.1;q21.2) translocation

Autor: Graeme, Greenfield, Olga, Michail, Bridgin, Merron, Julie, McGimpsey, Mark, Catherwood, Mary Frances, McMullin

Publikováno v: British journal of haematology. 186(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1a63e5de2fa0188af2d17bfa72b9d82c
https://pubmed.ncbi.nlm.nih.gov/30585303