Optical Genome Mapping Helps to Identify BCR::JAK2 Rearrangement Arising from Cryptic Complex Chromosomal Aberrations: A Case Report and Literature Review.
Genes (Basel)
; 14(12)2023 12 08.
Article
in En
| MEDLINE
| ID: mdl-38137010
ABSTRACT
We report a case of myeloproliferative neoplasm, not otherwise specified (MPN-NOS)-transformed AML with BCRJAK2 rearrangement. Chromosomal analysis indicated a simple abnormal karyotype 46,XY,t(7;17)(q21;q24),t(9;22)(p24;q11.2). Fluorescence in situ hybridization (FISH) using a BCR/ABL1/ASS1 probe set suggested a possible BCR rearrangement and a reflex JAK2 breakapart probe indicated JAK2 rearrangement, most likely partnered with BCR. Optical genome mapping (OGM) analysis confirmed BCRJAK2 derived through an inv(9)(p24p13) after a t(9;22)(p13;q11.2) in this case. Due to the complexity of chromosomal aberrations, disruption and/or rearrangement of other genes such as KIF24BCR, JAK2KIF24/UBAP1, and CDK6SOX9 were also identified by OGM. Although the functionality and clinical importance of these novel rearrangements were unknown, disruption of these genes might be associated with a poorer response to chemotherapy and disease progression. We also reviewed all cases with BCRJAK2 rearrangement reported in the literature. In conclusion, a suspected t(9;22)/BCRJAK2 rearrangement warrants further characterization with genomic assays such as OGM, whole chromosome sequencing, and RNA sequencing to explore other gene disruptions and/or rearrangements.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosome Aberrations
/
Myeloproliferative Disorders
Limits:
Humans
Language:
En
Journal:
Genes (Basel)
Year:
2023
Document type:
Article
Affiliation country:
United States