J Lab Med Qual Assur.  2014 Jun;36(2):107-112.

Chromothripsis Identified by Copy Number Profiling in a Case of Plasma Cell Leukaemia

• Sohn MJ
• Mun YC
• Seong CM
• Chung WS
• Huh J

Abstract

A genomic instability called chromothripsis occurs as a single catastrophic event, generating massive complex genomic rearrangement with a possible characteristic pattern of copy number oscillations. Here, we report a case of secondary plasma cell leukaemia (PCL) showing chromothripsis identified by single nucleotide polymorphism array (SNP-A)-based karyotyping. A 53-year-old male patient was diagnosed as having secondary PCL four years after he was diagnosed with multiple myeloma, and he died four days later due to intracerebral haemorrhage. Chromosomal analysis and fluorescence in situ hybridization (FISH) revealed the deletions of 13q and 17p and an insertion of 1q. Further, genomic aberrations that were not detected by chromosomal analysis and FISH were identified by SNP-A. In particular, SNP-A revealed numerous alternating copy number state switches involving one, two, or three copy number states on chromosome 7q, suggesting the presence of chromothripsis. The present case suggests that chromothripsis may occur in secondary PCL and can be inferred from genomic copy number profiles identified by SNP-A.

Keyword

Chromothripsis; Plasma cell leukaemia; Copy number; Array

MeSH Terms

Fluorescence
Genomic Instability
Humans
In Situ Hybridization
Karyotyping
Male
Middle Aged
Multiple Myeloma
Plasma Cells*
Polymorphism, Single Nucleotide