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@ARTICLE{Oubari:300104,
      author       = {S. Oubari and M. Papathanasiou and L. Michel and T. Rassaf
                      and A. Thimm and T. Hagenacker and D. Ehling and S.
                      Wieczorek and E. Naser and U. Hegenbart and S. Schönland
                      and U. Dührsen and H. C. Reinhardt$^*$ and A. Carpinteiro},
      title        = {{G}ain or amplification of 1q21 in systemic light chain
                      amyloidosis is associated with advanced {M}ayo stage, plasma
                      cell disease and worse overall survival.},
      journal      = {Annals of hematology},
      volume       = {104},
      number       = {3},
      issn         = {0939-5555},
      address      = {New York},
      publisher    = {Springer},
      reportid     = {DKFZ-2025-00604},
      pages        = {1777-1788},
      year         = {2025},
      note         = {2025 Mar;104(3):1777-1788},
      abstract     = {Systemic light-chain amyloidosis (AL) is an acquired
                      protein misfolding disease characterized by deposition of
                      immunoglobulin light-chain fibrils most often secreted from
                      clonal plasma cells. In this retrospective study we analyzed
                      the impact of iFISH aberrations on clinical characteristics
                      and outcomes in 175 AL patients presented between 2015 and
                      2024. The most common aberrations were t(11;14) $(57\%),$
                      deletion 13q14 $(33\%),$ +1q21 $(21\%),$ hyperdiploidy
                      $(21\%)$ and deletion 16q23 $(17\%).$ Significant elevations
                      in dFLC levels were observed in patients with + 1q21 (median
                      407 vs. 213 mg/l, p = 0.04) and deletion 16q23 (median 476
                      vs. 204, p = 0.006). Only + 1q21 was associated with
                      increased levels of cardiac biomarkers NTproBNP (median 9945
                      vs. 3538 pg/ml, p = 0.002) and hsTnT (median 110 vs. 53
                      ng/l, p = 0.002). This resulted in an increased proportion
                      of patients with Mayo stage IIIb $(53\%$ vs. $26\%,$ p =
                      0.01). Patients with + 1q21 had more advanced plasma cell
                      disease (p = 0.0004). Our study highlights for the first
                      time + 1q21 as the key aberration associated with advanced
                      cardiac and plasma cell disease. After 17 months of
                      follow-up, overall survival was significantly worse in
                      patients with + 1q21 treated with daratumumab (7.2 months
                      vs. not reached, p = 0.006). Alternative therapeutic
                      approaches such as CAR-T therapies or bispecific antibodies
                      should be further investigated.},
      keywords     = {+1q21 (Other) / AL amyloidosis (Other) / IFISH (Other) /
                      Mayo stage (Other)},
      cin          = {ED01},
      ddc          = {610},
      cid          = {I:(DE-He78)ED01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40119178},
      doi          = {10.1007/s00277-025-06256-7},
      url          = {https://inrepo02.dkfz.de/record/300104},
}