Chronic Myelomonocytic Leukemia (CMML) with Novel t(1;3)(p36.2;p12): Dual-locus Genomic Disruption Associated with Early Mortality.

Chronic myelomonocytic leukemia (CMML) is defined as a clonal disorder of the myeloid cell lineage, with the characteristic feature being monocytosis. Chromosomal abnormalities are common, but translocations involving chromosome 1p36 are rare. Here, we document a case of CMML that carried an unreported translocation involving t(1;3)(p36.2;p12). The patient showed rapid progression and died within six days post-diagnosis. The 1p36.2 chromosomal region harbors tumor suppressors such as PR domain containing 16 (PRDM16), Tumor Protein 73 (TP73), Cadherin 5 or VE-cadherin (CHD5), and Kinase Family Member 1B (KIF1B), while the 3p12 chromosomal location plays a role in the malignant transformation and disruption of the tumor suppressors, focusing on the genomic instability observed in the case. These changes may partially harbor the capacity to contribute to the pathogenesis of aggressive behaviors in leukemia through failure of apoptosis, chromatin remodeling pathways, and enhanced self-renewal capabilities of stem cells.