First reported TRIB1 copy number loss in myelodysplastic syndrome (MDS) revealed by single nucleotide polymorphism array (SNP-array) with patient-matched control

A 30-year-old woman with MDS with low blasts (MDS-LB) presented a somatic 67-kb copy number loss at 8q24.13 involving <i>TRIB1</i>, detected by single nucleotide polymorphism (SNP) array. Bone marrow analysis showed no mutations in common MDS genes (<i>TP53, ASXL1, TET2, RUNX1</i>) or karyotypic abnormalities (46, XX). Using oral epithelial DNA as a patient-matched control, SNP-array identified four hereditary uniparental disomies (UPDs) and a somatic <i>TRIB1</i>-containing deletion at 8q24.13. This deletion likely caused <i>TRIB1</i> haploinsufficiency, reducing control over dysplastic clones and driving progression to MDS with increased blasts 2 (MDS-IB2) over three years. This first report of <i>TRIB1</i> copy number loss in myeloid disorders highlights the value of SNP-array with patient-matched controls in distinguishing somatic variants, expanding MDS's genetic profile and underscoring <i>TRIB1</i>'s context-dependent roles in oncogenesis.