Sir Peter MacCallum Department of Oncology - Research Publications

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Author: Westerman, David × Author: Ryland, Georgina × Author: Thompson, Ella ×

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    Quantitation of CMV Specific T-Cell Expansion Using T Cell Receptor Beta Locus Deep Sequencing to Identify Patients at Risk of Viral Complications
    Kuzich, JA ; Kankanige, Y ; Guinto, J ; Ryland, G ; McBean, M ; Thompson, E ; Wong, E ; Koldej, R ; Collins, J ; Westerman, D ; Ritchie, DS ; Blombery, P (ELSEVIER SCIENCE INC, 2020-03)
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    ASXL1 c.1934dup;p.Gly646Trpfs*12-a true somatic alteration requiring a new approach
    Yannakou, CK ; Jones, K ; McBean, M ; Thompson, ER ; Ryland, GL ; Doig, K ; Markham, J ; Westerman, D ; Blombery, P (NATURE PUBLISHING GROUP, 2017-12-20)
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    Frequent activating STAT3 mutations and novel recurrent genomic abnormalities detected in breast implant-associated anaplastic large cell lymphoma.
    Blombery, P ; Thompson, E ; Ryland, GL ; Joyce, R ; Byrne, DJ ; Khoo, C ; Lade, S ; Hertzberg, M ; Hapgood, G ; Marlton, P ; Deva, A ; Lindeman, G ; Fox, S ; Westerman, D ; Prince, M (Impact Journals, LLC, 2018-11-16)
    Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare form of T-cell lymphoma that occurs after implantation of breast prostheses. We performed comprehensive next generation sequencing based genomic characterization of 11 cases of BIA-ALCL including sequence variant detection on 180 genes frequently mutated in haematological malignancy, genome-wide copy number assessment, structural variant detection involving the T-cell receptor loci and TRB deep-sequencing. We observed sequence variants leading to JAK/STAT activation in 10 out of 11 patients. We also observed germline TP53 mutations in two cases. In addition we detected a recurrent copy number loss involving RPL5 as well as copy number amplifications involving TNFRSF11A [RANK] (in 2 cases), MYC, P2RX7, TMEM119 and PDGFRA. In summary, our comprehensive genomic characterisation of 11 cases of BIA-ALCL has provided insight into potential pathobiological mechanisms (JAK/STAT, MYC and TP53) as well as identifying targets for future therapeutic intervention (TNFRSF11A, PDGFRA) in this rare entity.