Next generation sequencing of breast implant-associated anaplastic large cell lymphomas reveals a novel STAT3-JAK2 fusion among other activating genetic alterations within the JAK-STAT pathway Journal Article


Authors: Quesada, A. E.; Zhang, Y.; Ptashkin, R.; Ho, C.; Horwitz, S.; Benayed, R.; Dogan, A.; Arcila, M. E.
Article Title: Next generation sequencing of breast implant-associated anaplastic large cell lymphomas reveals a novel STAT3-JAK2 fusion among other activating genetic alterations within the JAK-STAT pathway
Abstract: Breast implant associated anaplastic large cell lymphoma (BIA-ALCL) is a distinct type of ALCL, and a new provisional entity by the 2016 revision of the World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues. In contrast to systemic and primary cutaneous ALCLs, BIA-ALCLs have been genetically characterized by the absence of fusions and frequent activation of the JAK-STAT3 pathway through mutations in JAK1 and STAT3. In this study, we report the results of the genetic profiling of 9 BIA-ALCL cases supporting the role of the JAK-STAT pathway activation in this entity, including the identification of an activating STAT3-JAK2 fusion similar to those recently reported in T-cell lymphoproliferative disorders of the gastrointestinal tract. To our knowledge, this is the first fusion reported in BIA-ALCL, providing further insight into the overall genetic landscape of this rare entity as well as uncovering potential options for targeted therapy in cases with advanced disease. © 2021 Wiley Periodicals LLC
Keywords: mutations; hematopathology; next generation sequencing; fusions; breast implant associated anaplastic large cell lymphoma; stat3-jak2 fusion; structural rearrangements
Journal Title: Breast Journal
Volume: 27
Issue: 4
ISSN: 1075-122X
Publisher: Wiley Blackwell  
Date Published: 2021-04-01
Start Page: 314
End Page: 321
Language: English
DOI: 10.1111/tbj.14205
PUBMED: 33660353
PROVIDER: scopus
DOI/URL:
Notes: Article -- Export Date: 3 May 2021 -- Source: Scopus
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MSK Authors
  1. Steven M Horwitz
    466 Horwitz
  2. Maria Eugenia Arcila
    517 Arcila
  3. Ahmet Dogan
    280 Dogan
  4. Rym Benayed
    143 Benayed
  5. Caleb   Ho
    57 Ho
  6. Yanming Zhang
    98 Zhang