Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Abstract:

Background:Catastrophic chromosomal event known as chromothripsis was proven to be a significant hallmark of poor prognosis in several cancer diseases. While this phenomenon is very rare in among multiple myeloma (MM) patients, its presence in karyotype is associated with very poor prognosis. Case presentation:In our case, we report a 62 year female patient with rapid progression of multiple myeloma (MM) into extramedullary disease and short overall survival (OS = 23 months). I-FISH investigation revealed presence of gain 1q21 and hyperdiploidy (+ 5,+ 9,+ 15) in 82% and 86%, respectively, while IgH rearrangements, del(17)(p13) and del(13)(q14) were evaluated as negative.Whole-genome profiling using array-CGH showed complex genomic changes including hyperdiploidy (+ 3,+ 5,+ 9,+ 11, + 15,+ 19), monosomy X, structural gains (1q21-1q23.1, 1q32-1q44, 16p13.13-16p11.2) and losses (1q23.1-1q32.1; 8p23.3-8p11.21) of genetic material and chromothripsis in chromosome 18 with 6 breakpoint areas. Next-generation sequencing showed a total of 338 variants with 1.8% (6/338) of pathological mutations in NRAS (c.181C > A; p.Gln61Lys) or variants of unknown significance in TP53, CUX1 and POU4F1. Conclusions:Our findings suggest that presence of chromothripsis should be considered as another important genetic hallmark of poor prognosis in MM patients and utilization of genome-wide screening techniques such as array-CGH and NGS improves the clinical diagnostics of the disease.

journal_name

Mol Cytogenet

journal_title

Molecular cytogenetics

authors

Smetana J,Oppelt J,Štork M,Pour L,Kuglík P

doi

10.1186/s13039-018-0357-5

subject

Has Abstract

pub_date

2018-01-18 00:00:00

pages

7

issn

1755-8166

pii

357

journal_volume

11

pub_type

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    更新日期:2015-10-24 00:00:00

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    pub_type: 杂志文章

    doi:10.1186/s13039-015-0212-x

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    更新日期:2016-01-06 00:00:00

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    doi:10.1186/1755-8166-6-48

    authors: Dos Santos LP,Castro JP,Francisco CM,Vicari MR,de Almeida MC,Goll LG,Morelli S,Artoni RF

    更新日期:2013-11-05 00:00:00

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    pub_type:

    doi:10.1186/s13039-018-0374-4

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    更新日期:2018-05-09 00:00:00

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    abstract:BACKGROUND:The uncultivated species Dasypyrum breviaristatum carries novel diseases resistance and agronomically important genes of potential use for wheat improvement. The development of new wheat-D. breviaristatum derivatives lines with disease resistance provides an opportunity for the identification and localizatio...

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    pub_type: 杂志文章

    doi:10.1186/s13039-016-0217-0

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    更新日期:2016-01-25 00:00:00