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

Blood. 2020 Dec 17;136(25):2927-2932. doi: 10.1182/blood.2020005372.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Implants / adverse effects*
  • Breast Neoplasms* / etiology
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / metabolism
  • Breast Neoplasms* / pathology
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 20* / genetics
  • Chromosomes, Human, Pair 20* / metabolism
  • Female
  • Humans
  • Lymphoma, Large-Cell, Anaplastic* / etiology
  • Lymphoma, Large-Cell, Anaplastic* / genetics
  • Lymphoma, Large-Cell, Anaplastic* / metabolism
  • Lymphoma, Large-Cell, Anaplastic* / pathology
  • Mutation*
  • Neoplasm Proteins* / genetics
  • Neoplasm Proteins* / metabolism
  • Retrospective Studies

Substances

  • Neoplasm Proteins