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 |
| PMCID: | PMC8480912 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 3 May 2021 -- Source: Scopus |
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