somatic mutations in Breast implant associated anaplastic large cell lymphoma

What is it about?

Breast implant–associated anaplastic large-cell lymphoma (BI-ALCL) is a rare malignant T-cell lymphoma that has recently been included as a provisional entity into the revised WHO Classification of Lymphoid Neoplasms. The genetic landscape of BI-ALCL is poorly understood. We performed targeted next generation sequencing on seven cases of BI-ALCL using a panel of 465 genes known to be recurrently altered in haematological malignancies. Four genes were found to be somatically mutated in two BI-ALCL cases. These included gain-of-function mutations in STAT3, and loss-of-function mutations in SOCS1, TP53 and DNMT3A.

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Why is it important?

Even though the clinical features of BI-ALCL have been recently defined, the molecular mechanisms underlining the natural course of the disease are still largely unknown. This limits the identification of biomarkers that would allow early diagnosis of BI-ALCL and provide indication about optimal treatment of patients with advanced disease. We believe that our results add a valuable piece of information to the knowledge of BI-ALCL pathobiology.