Frequent activating STAT3 mutations and novel recurrent genomic abnormalities detected in breast implant-associated anaplastic large cell lymphoma.
AuthorBlombery, P; Thompson, E; Ryland, GL; Joyce, R; Byrne, DJ; Khoo, C; Lade, S; Hertzberg, M; Hapgood, G; Marlton, P; ...
PublisherImpact Journals, LLC
University of Melbourne Author/sLindeman, Geoffrey; Westerman, David; Fox, Stephen; Lade, Stephen; Thompson, Ella; Prince, Henry; Joyce, Rachel; Ryland, Georgina
AffiliationMedicine and Radiology
Sir Peter MacCallum Department of Oncology
Document TypeJournal Article
CitationsBlombery, 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 StatusOpen Access
Open Access at PMChttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281423
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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