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Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

ABSTRACT: Retrospective investigation of genetic background of rapid progression of multiple myeloma into extramedullary relapse. Array-CGH showed chromothripsis in chromosome 18, hyperdiploidy, structural copy-number alterations. Utilization of novel NGS leukemia-related gene custom panel revealed patholological mutation in NRAS (c.181C>A; p.Gln61Lys) or variants of unknown significance in TP53, CUX1 and POU4F1.

INSTRUMENT(S): Agilent DNA Microarray Scanner

ORGANISM(S): Homo sapiens

SUBMITTER: Jan Smetana

PROVIDER: E-MTAB-6033 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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