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Chromosome 20 loss is characteristic for Breast implant-Associated Anaplastic Large Cell Lymphoma.

Authors
  • Los-de Vries, G Tjitske1
  • De Boer, Mintsje2
  • van Dijk, Erik1
  • Stathi, Phylicia1
  • Hijmering, Nathalie J1
  • Roemer, Margaretha G M1
  • Mendeville, Matias1
  • Miedema, Daniel M3
  • de Boer, Jan Paul4
  • Rakhorst, Hinne A5
  • van Leeuwen, Flora E6
  • van der Hulst, René Rwj2
  • Ylstra, Bauke7
  • De Jong, Daphne7
  • 1 Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands. , (Netherlands)
  • 2 Maastricht University Medical Center, Maastricht, Netherlands. , (Netherlands)
  • 3 Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands. , (Netherlands)
  • 4 Netherlands Cancer Institute Antoni cvan Leeuwenhoek, Amsterdam, Netherlands. , (Netherlands)
  • 5 Medisch Spectrum Twente, Enschede, Netherlands. , (Netherlands)
  • 6 The Netherlands Cancer Institute, Amsterdam, Netherlands. , (Netherlands)
  • 7 VU University Medical Center, Amsterdam, Netherlands. , (Netherlands)
Type
Published Article
Journal
Blood
Publisher
American Society of Hematology
Publication Date
Sep 08, 2020
Identifiers
DOI: 10.1182/blood.2020005372
PMID: 32898861
Source
Medline
Language
English
License
Unknown

Abstract

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a very rare type of T-cell lymphoma, 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 (CNA) and mutational profiles for a subset (n=7) were determined. For comparison, CNAs for ALK-negative nodal-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 for BIA-ALCL as compared to other classes of ALCL, such as primary cutaneous ALCL, systemic type ALK-positive and -negative ALCL. Mutational patterns confirm that the IL6-JAK1-STAT3 pathway is deregulated. Although this is commonly observed across various types of T-cell lymphomas, the extent of deregulation however is significantly higher in BIA-ALCL as indicated by pSTAT3 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. Copyright © 2020 American Society of Hematology.

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