This section shows a general overview of information for the selected study (COSU identifier) or publication (COSP identifier). Studies may have been performed by the Sanger Institute Cancer Genome Project, or imported from the ICGC/TCGA. You can see more information on the help pages.
- Frequent activating STAT3 mutations and novel recurrent genomic abnormalities detected in breast implant-associated anaplastic large cell lymphoma.
- Paper ID
- Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
PMID: 30546832 (view at PubMed or Europe PMC)
- 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 <i>TP53</i> mutations in two cases. In addition we detected a recurrent copy number loss involving RPL5 as well as copy number amplifications involving <i>TNFRSF11A</i> [RANK] (in 2 cases), <i>MYC</i>, <i>P2RX7</i>, <i>TMEM119</i> and <i>PDGFRA</i>. 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.
- Paper Status
- Genes Analysed
- Mutated Samples
- Total No. of Samples