Mate pair sequencing outperforms fluorescence in situ hybridization in the genomic characterization of multiple myeloma.

Autor:	Smadbeck J; Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, MN, USA., Peterson JF; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Pearce KE; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Pitel BA; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Figueroa AL; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Timm M; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Jevremovic D; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Shi M; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Stewart AK; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Scottsdale, AZ, USA., Braggio E; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Scottsdale, AZ, USA., Riggs DL; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Scottsdale, AZ, USA., Bergsagel PL; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Scottsdale, AZ, USA., Vasmatzis G; Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, MN, USA., Kearney HM; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Hoppman NL; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Ketterling RP; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Kumar S; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA., Rajkumar SV; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA., Greipp PT; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Baughn LB; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. baughn.linda@mayo.edu.
Jazyk:	angličtina
Zdroj:	Blood cancer journal [Blood Cancer J] 2019 Dec 16; Vol. 9 (12), pp. 103. Date of Electronic Publication: 2019 Dec 16.
DOI:	10.1038/s41408-019-0255-z
Abstrakt:	Fluorescence in situ hybridization (FISH) is currently the gold-standard assay to detect recurrent genomic abnormalities of prognostic significance in multiple myeloma (MM). Since most translocations in MM involve a position effect with heterogeneous breakpoints, we hypothesize that FISH has the potential to miss translocations involving these regions. We evaluated 70 bone marrow samples from patients with plasma cell dyscrasia by FISH and whole-genome mate-pair sequencing (MPseq). Thirty cases (42.9%) displayed at least one instance of discordance between FISH and MPseq for each primary and secondary abnormality evaluated. Nine cases had abnormalities detected by FISH that went undetected by MPseq including 6 tetraploid clones and three cases with missed copy number abnormalities. In contrast, 19 cases had abnormalities detected by MPseq that went undetected by FISH. Seventeen were MYC rearrangements and two were 17p deletions. MPseq identified 36 MYC abnormalities and 17 (50.0% of MYC abnormal group with FISH results) displayed a false negative FISH result. MPseq identified 10 cases (14.3%) with IgL rearrangements, a recent marker of poor outcome, and 10% with abnormalities in genes associated with lenalidomide response or resistance. In summary, MPseq was superior in the characterization of rearrangement complexity and identification of secondary abnormalities demonstrating increased clinical value compared to FISH.
Databáze:	MEDLINE
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