Analysis of exonic somatic variants in light-chain amyloidosis (ALA) and ALA concomitant with multiple myeloma

We aim to provide the very first insight into ALA+MM molecular profiles and compare the results with ALA and with MM. Our detailed study of ALA and ALA+MM represents an important step towards improved understanding of their genetic and transcriptomic background, which is a prerequisite for development of optimal treatment strategies in the future.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

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Dataset ID	Description	Technology	Samples
EGAD00001006047	DNA was isolated from aberrant plasma cells (aPCs) and peripheral blood of 12 ALA, 10 ALA+MM and 29 MM individuals. DNA from aPCs was amplified using REPLI-g Mini Kit (Qiagen). Totally, we analyzed 51 patients, 102 samples. One batch of exome libraries (paired tumor-normal samples from 12 ALA, 10 ALA+MM and 6 MM) was prepared using SureSelect Human All Exon V5 Kit (Agilent Technologies) and sequenced on Illumina HiSeq 4000 platform, 100 cycles. Second batch (23 MM samples; IDs ARK01-ARK26) was prepared using SureSelect Human All Exon V5 + IGH, IGK, IGL, MYC (Agilent Technologies) library preparation kit and sequenced on Illumina HiSeq 2000 platform in paired-end settings, 75 cycles. The reads were mapped using BWA-MEM on human genome GRCh38 without alternate loci.	Illumina HiSeq 2500	99

Publications	Citations
Heterogenous mutation spectrum and deregulated cellular pathways in aberrant plasma cells underline molecular pathology of light-chain amyloidosis. Chyra Z, Sevcikova T, Vojta P, Puterova J, Brozova L, Growkova K, Filipova J, Zatopkova M, Grosicki S, Barchnicka A, Jedrzejczak WW, Waszczuk-Gajda A, Jungova A, Mikulasova A, Hajduch M, Mokrejs M, Pour L, Stork M, Harvanova L, Mistrik M, Mikala G, Robak P, Czyz A, Debski J, Usnarska-Zubkiewicz L, Jurczyszyn A, Stejskal L, Morgan G, Kryukov F, Budinska E, Simicek M, Jelinek T, Hrdinka M, Hajek R. Haematologica 106: 2021 601-604	1

Publications

Citations

Heterogenous mutation spectrum and deregulated cellular pathways in aberrant plasma cells underline molecular pathology of light-chain amyloidosis.
Chyra Z, Sevcikova T, Vojta P, Puterova J, Brozova L, Growkova K, Filipova J, Zatopkova M, Grosicki S, Barchnicka A, Jedrzejczak WW, Waszczuk-Gajda A, Jungova A, Mikulasova A, Hajduch M, Mokrejs M, Pour L, Stork M, Harvanova L, Mistrik M, Mikala G, Robak P, Czyz A, Debski J, Usnarska-Zubkiewicz L, Jurczyszyn A, Stejskal L, Morgan G, Kryukov F, Budinska E, Simicek M, Jelinek T, Hrdinka M, Hajek R. Haematologica 106: 2021 601-604