Optical Genome Mapping Helps to Identify BCR::JAK2 Rearrangement Arising from Cryptic Complex Chromosomal Aberrations: A Case Report and Literature Review

Authors

Neelam Vanjari
Guilin Tang
Gokce A Toruner
Wei Wang
Beenu Thakral
Ming Zhao
Bhavana J Dave
Joseph D Khoury
L Jeffrey Medeiros
Zhenya Tang

Language

English

Publication Date

12-8-2023

Journal

Genes

DOI

10.3390/genes14122188

PMID

38137010

PMCID

PMC10742890

PubMedCentral® Posted Date

12-8-2023

PubMedCentral® Full Text Version

Post-print

Abstract

We report a case of myeloproliferative neoplasm, not otherwise specified (MPN-NOS)-transformed AML with BCR::JAK2 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 BCR::JAK2 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 KIF24::BCR, JAK2::KIF24/UBAP1, and CDK6:SOX9 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 BCR::JAK2 rearrangement reported in the literature. In conclusion, a suspected t(9;22)/BCR::JAK2 rearrangement warrants further characterization with genomic assays such as OGM, whole chromosome sequencing, and RNA sequencing to explore other gene disruptions and/or rearrangements.

Keywords

Humans, In Situ Hybridization, Fluorescence, Chromosome Aberrations, Myeloproliferative Disorders, Disease Progression, Chromosome Mapping, Janus Kinase 2, BCR::JAK2 rearrangement, optical genome mapping (OGM), complex chromosomal aberrations, myeloproliferative neoplasm (MPN), fluorescence in situ hybridization (FISH)

Published Open-Access

yes

Recommended Citation

Vanjari, Neelam; Tang, Guilin; Toruner, Gokce A; et al., "Optical Genome Mapping Helps to Identify BCR::JAK2 Rearrangement Arising from Cryptic Complex Chromosomal Aberrations: A Case Report and Literature Review" (2023). Faculty, Staff and Student Publications. 6685.
https://digitalcommons.library.tmc.edu/uthgsbs_docs/6685