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, Rene R. W. J. van der Hulst, Bauke Ylstra, Daphne de Jong*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

13 Citations (Web of Science)

Abstract

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
JournalBlood
Volume136
Issue number25
DOIs
Publication statusPublished - 17 Dec 2020

Keywords

  • MUTATIONS
  • GENETICS

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