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

Piers Blombery*, Ella Thompson, Georgina L. Ryland, Rachel Joyce, David J. Byrne, Christine Khoo, Stephen Lade, Mark Hertzberg, Greg Hapgood, Paula Marlton, Anand Deva, Geoffrey Lindeman, Stephen Fox, David Westerman, Miles Prince

*Corresponding author for this work

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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.

Original languageEnglish
Pages (from-to)36126-36136
Number of pages11
Issue number90
Publication statusPublished - 1 Nov 2018


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  • Genomics
  • Lymphoma
  • NGS

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