Abstract
A 30-year-old woman with MDS with low blasts (MDS-LB) presented a somatic 67-kb copy number loss at 8q24.13 involving TRIB1, detected by single nucleotide polymorphism (SNP) array. Bone marrow analysis showed no mutations in common MDS genes (TP53, ASXL1, TET2, RUNX1) 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 TRIB1-containing deletion at 8q24.13. This deletion likely caused TRIB1 haploinsufficiency, reducing control over dysplastic clones and driving progression to MDS with increased blasts 2 (MDS-IB2) over three years. This first report of TRIB1 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 TRIB1's context-dependent roles in oncogenesis.