Frequent activating STAT3 mutations and novel recurrent genomic abnormalities detected in breast implant-associated anaplastic large cell lymphoma.

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Blombery, P; Thompson, E; Ryland, GL; Joyce, R; Byrne, DJ; Khoo, C; Lade, S; Hertzberg, M; Hapgood, G; Marlton, P; ...Date
2018-11-16Source Title
OncotargetPublisher
Impact Journals, LLCUniversity of Melbourne Author/s
Lindeman, Geoffrey; Westerman, David; Fox, Stephen; Lade, Stephen; Thompson, Ella; Prince, Henry; Joyce, Rachel; Ryland, GeorginaAffiliation
Medicine and RadiologySir Peter MacCallum Department of Oncology
Clinical Pathology
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Blombery, P., Thompson, E., Ryland, G. L., Joyce, R., Byrne, D. J., Khoo, C., Lade, S., Hertzberg, M., Hapgood, G., Marlton, P., Deva, A., Lindeman, G., Fox, S., Westerman, D. & Prince, M. (2018). Frequent activating STAT3 mutations and novel recurrent genomic abnormalities detected in breast implant-associated anaplastic large cell lymphoma.. Oncotarget, 9 (90), pp.36126-36136. https://doi.org/10.18632/oncotarget.26308.Access Status
Open AccessOpen Access at PMC
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281423Abstract
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.
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