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@ARTICLE{Bochtler:141915,
author = {T. Bochtler$^*$ and M. Merz and T. Hielscher$^*$ and M.
Granzow and K. Hoffmann and A. Krämer$^*$ and M.-S.
Raab$^*$ and J. Hillengass$^*$ and A. Seckinger and C.
Kimmich and T. Dittrich$^*$ and C. Müller-Tidow and D. Hose
and H. Goldschmidt$^*$ and U. Hegenbart and A. Jauch and S.
O. Schönland},
title = {{C}ytogenetic intraclonal heterogeneity of plasma cell
dyscrasia in {AL} amyloidosis as compared with multiple
myeloma.},
journal = {Blood advances},
volume = {2},
number = {20},
issn = {2473-9537},
address = {Washington, DC},
publisher = {American Society of Hematology},
reportid = {DKFZ-2018-02172},
pages = {2607 - 2618},
year = {2018},
abstract = {Analysis of intraclonal heterogeneity has yielded insights
into the clonal evolution of hematologic malignancies. We
compared the clonal and subclonal compositions of the
underlying plasma cell dyscrasia in 544 systemic light chain
amyloidosis (PC-AL) patients with 519 patients with
monoclonal gammopathy of undetermined significance (MGUS),
smoldering multiple myeloma (SMM), or symptomatic MM; ie,
PC-non-AL patients). Using interphase fluorescence in situ
hybridization, subclones were stringently defined as clone
size below two thirds of the largest clone and an absolute
difference of $≥30\%.$ Subclones were found less
frequently in the PC-AL group, at 199 $(36.6\%)$ of 544 as
compared with 267 $(51.4\%)$ of 519 in the PC-non-AL group
(P < .001), and were not associated with the stage of plasma
cell dyscrasia in either entity. In both groups,
translocation t(11;14), other immunoglobulin heavy chain
translocations, and hyperdiploidy were typically found as
main clones, whereas gain of 1q21 and deletions of 8p21,
13q14, and 17p13 were frequently found as subclones. There
were no shifts in the subclone/main clone ratio depending on
the MGUS, SMM, or MM stage of plasma cell dyscrasia. In
multivariate analysis, t(11;14) was associated with lower
rates of subclone formation and hyperdiploidy with higher
rates. PC-AL itself lost statistical significance,
demonstrating that the lower subclone frequency in AL is a
reflection of its exceptionally high t(11;14) frequency. In
summary, the subclone patterns in PC-AL and PC-non-AL are
closely related, implying that subclone formation depends on
the main cytogenetic categories and is independent of
disease entity and stage.},
cin = {G330 / C060},
ddc = {610},
cid = {I:(DE-He78)G330-20160331 / I:(DE-He78)C060-20160331},
pnm = {317 - Translational cancer research (POF3-317)},
pid = {G:(DE-HGF)POF3-317},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:30327369},
pmc = {pmc:PMC6199662},
doi = {10.1182/bloodadvances.2018023200},
url = {https://inrepo02.dkfz.de/record/141915},
}