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Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse
- Source :
- Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-6 (2018), Molecular Cytogenetics
- Publication Year :
- 2018
- Publisher :
- Springer Science and Business Media LLC, 2018.
-
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. Electronic supplementary material The online version of this article (10.1186/s13039-018-0357-5) contains supplementary material, which is available to authorized users.
- Subjects :
- 0301 basic medicine
Neuroblastoma RAS viral oncogene homolog
medicine.medical_specialty
Array-CGH
lcsh:QH426-470
Case Report
Mutation screening
Biochemistry
03 medical and health sciences
0302 clinical medicine
Multiple myeloma
Chromosome 18
Genetics
Medicine
Molecular Biology
Genetics (clinical)
Chromothripsis
business.industry
Biochemistry (medical)
Breakpoint
Cytogenetics
Karyotype
medicine.disease
3. Good health
lcsh:Genetics
030104 developmental biology
NGS
030220 oncology & carcinogenesis
Cancer research
Molecular Medicine
Hyperdiploidy
business
Subjects
Details
- ISSN :
- 17558166
- Volume :
- 11
- Database :
- OpenAIRE
- Journal :
- Molecular Cytogenetics
- Accession number :
- edsair.doi.dedup.....79f8f37691dcc7a5a13fc5cce132f26a