Highly precise breakpoint detection of chromosome balanced translocation in chronic myelogenous leukaemia: Case series.
J Cell Mol Med
; 26(17): 4721-4726, 2022 09.
Article
in En
| MEDLINE
| ID: mdl-35903038
ABSTRACT
Chronic myelogenous leukaemia (CML) has a special phenomenon of chromosome translocation, which is called Philadelphia chromosome translocation. However, the detailed connection of this structure is troublesome and expensive to be identified. Low-coverage whole genome sequencing (LCWGS) could not only detect the previously unknown chromosomal translocation, but also provide the breakpoint candidate small region (with an accuracy of ±200 bases). Importantly, the sequencing cost of LCWGS is about US$300. Then, with the Sanger DNA sequencing, the precise breakpoint can be determined at a single base level. In our project, with LCWGS, BCR and ABL1 are successfully identified to be disrupted in three CML patients (at chr2223,632,356 and chr9133,590,450; chr2223,633,748 and chr9133,635,781; chr22 23,631,831 and chr9133,598,513, respectively). Due to the reconnection after chromosome breakage, classical fusion gene (BCRABL1) was found in bone marrow and peripheral blood. The precise breakpoints were helpful to investigate the pathogenic mechanism of CML and could better guide the classification of CML subtypes. This LCWGS method is universal and can be used to detect all diseases related to chromosome variation, such as solid tumours, liquid tumours and birth defects.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
/
Leukemia, Myeloid
Type of study:
Diagnostic_studies
Limits:
Humans
Language:
En
Journal:
J Cell Mol Med
Journal subject:
BIOLOGIA MOLECULAR
Year:
2022
Document type:
Article
Affiliation country:
China