Chromosome 20 loss is characteristic of breast implant-associated anaplastic large cell lymphoma

G Tjitske Los-de Vries, Mintsje de Boer, Erik van Dijk, Phylicia Stathi, Nathalie J Hijmering, Margaretha G M Roemer, Matias Mendeville, Daniel M Miedema, Jan Paul de Boer, Hinne A Rakhorst, Flora E van Leeuwen, René R W J van der Hulst, Bauke Ylstra, Daphne de Jong

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Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a very rare type of T-cell lymphoma that is uniquely caused by a single environmental stimulus. Here, we present a comprehensive genetic analysis of a relatively large series of BIA-ALCL (n = 29), for which genome-wide chromosomal copy number aberrations (CNAs) and mutational profiles for a subset (n = 7) were determined. For comparison, CNAs for anaplastic lymphoma kinase (ALK)- nodal anaplastic large cell lymphomas (ALCLs; n = 24) were obtained. CNAs were detected in 94% of BIA-ALCLs, with losses at chromosome 20q13.13 in 66% of the samples. Loss of 20q13.13 is characteristic of BIA-ALCL compared with other classes of ALCL, such as primary cutaneous ALCL and systemic type ALK+ and ALK- ALCL. Mutational patterns confirm that the interleukin-6-JAK1-STAT3 pathway is deregulated. Although this is commonly observed across various types of T-cell lymphomas, the extent of deregulation is significantly higher in BIA-ALCL, as indicated by phosphorylated STAT3 immunohistochemistry. The characteristic loss of chromosome 20 in BIA-ALCL provides further justification to recognize BIA-ALCL as a separate disease entity. Moreover, CNA analysis may serve as a parameter for future diagnostic assays for women with breast implants to distinguish seroma caused by BIA-ALCL from other causes of seroma accumulation, such as infection or trauma.

Original languageEnglish
Pages (from-to)2927-2932
Number of pages6
Issue number25
Publication statusPublished - 17 Dec 2020

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