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.
- Genetics of Breast Implant-Associated Anaplastic Large Cell Lymphoma (BIA-ALCL).
- Paper ID
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Aesthetic surgery journal, 2019;39(Supplement_1):S14-S20
PMID: 30715169 (view at PubMed or Europe PMC)
- Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL), a newly included provisional entity in the 2016 revision of the World Health Organization classification, is a distinct form of CD30-positive T-cell non-Hodgkin lymphoma that arises in association with a breast implant after reconstructive or cosmetic surgery. In addition to its characteristic clinical presentation, recent studies using next-generation sequencing have revealed that BIA-ALCL has a unique pattern of genetic alterations. BIA-ALCL is consistently negative for ALCL-related gene rearrangements involving ALK, DUSP22, and TP63. However, the JAK-STAT3 pathway is constitutively activated in BIA-ALCL, which in some cases is associated with recurrent somatic mutations of JAK1 and/or STAT3. These activating mutations, which may be concurrent, are identified in 13% (3/23) and 26% (6/23) of BIA-ALCLs, respectively. Other genetic alterations include point mutations of DNMT3A and TP53. Although the number of examined cases has been limited, these findings suggest that BIA-ALCL shows more uniform molecular features than systemic and primary cutaneous ALCLs, which show considerable genetic heterogeneity. Targeted therapies inhibiting JAK-STAT signaling are being developed and may offer novel therapeutic options for patients with BIA-ALCL, especially those with advanced disease.
- Paper Status
- Genes Analysed
- Mutated Samples
- Total No. of Samples