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. 2021 Feb 1;106(2):601-604.
doi: 10.3324/haematol.2019.239756.

Heterogenous mutation spectrum and deregulated cellular pathways in aberrant plasma cells underline molecular pathology of light-chain amyloidosis

Zuzana Chyra  1 , Tereza Sevcikova  2 , Petr Vojta  3 , Janka Puterova  4 , Lucie Brozova  5 , Katerina Growkova  2 , Jana Filipova  6 , Martina Zatopkova  2 , Sebastian Grosicki  7 , Agnieszka Barchnicka  7 , Wieslaw Wiktor Jedrzejczak  8 , Anna Waszczuk-Gajda  8 , Alexandra Jungova  9 , Aneta Mikulasova  10 , Marian Hajduch  3 , Martin Mokrejs  11 , Ludek Pour  12 , Martin Stork  12 , Lubica Harvanova  13 , Martin Mistrik  13 , Gabor Mikala  14 , Pawel Robak  15 , Anna Czyz  16 , Jakub Debski  16 , Lidia Usnarska-Zubkiewicz  16 , Artur Jurczyszyn  17 , Lukas Stejskal  18 , Gareth Morgan  19 , Fedor Kryukov  20 , Eva Budinska  21 , Michal Simicek  2 , Tomas Jelinek  20 , Matous Hrdinka  2 , Roman Hajek  20
Affiliations

Heterogenous mutation spectrum and deregulated cellular pathways in aberrant plasma cells underline molecular pathology of light-chain amyloidosis

Zuzana Chyra et al. Haematologica. .
No abstract available

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Figures

Figure 1.
Figure 1.
Profiling of somatic variants. (A) Distribution of numbers of filtered single nucleotide variants (SNV) per sample in light-chain amyloidosis (ALA), ALA plus multiple myeloma (ALA+MM) and MM. (B) Distribution of subclones in ALA, ALA+MM and MM. (C) Overlap of sets of mutated genes in ALA, ALA+MM and MM (large circles); numbers of genes mutated in more than two samples within ALA, ALA+MM and MM (small circles). (D) Distribution of MM drivers per sample in ALA, ALA+MM and MM. (E) Heat-map of occurrence of mutated drives in each cohort. Cohort sizes are given in brackets. The assignment of drivers into functional categories was performed according to Walker et al.; ST kinase: serine/threonin kinase.
Figure 2.
Figure 2.
Gene Ontology (GO) analysis of genes differentially expressed in light-chain amyloidosis (ALA) and ALA plus multiple myeloma (ALA+MM) versus MM diagnoses and assigned into the category “biological process”. (A) The overlap of upregulated genes in ALA and ALA+MM. The top upregulated pathways are provided for the colored intersections. (B) The overlap of downregulated genes in ALA and ALA+MM. The top downregulated pathways are provided for the colored intersections. P=0.000002, P=0.000283, P=0.00078, P=0.000011, P=0.001867, P=0.04333 and P=0.02736.
See this image and copyright information in PMC

References

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