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;
Publication Year 2018-11-16, Volume 9, Issue #90, Page 36126-36136
- Journal Title
- Publication Type
- Journal Article
- 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.
- Impact Journals LLC
- WEHI Research Division(s)
- Stem Cells And Cancer
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Creation Date: 2019-01-15 08:46:08Last Modified: 2019-01-15 08:46:56