Unravelling the Prognostic Significance of a Very Rare Cytogenetic Abnormality Trisomy 7, Trisomy 12 with iso(Xq10)...

Acute myeloid leukemia (AML) is a blood cancer characterized by the overproduction of myeloid precursors within the bone marrow, resulting in disrupted hematopoiesis. Chromosomal abnormalities provide valuable insights into the development of AML and serve as key indicators of patient outcomes and treatment strategies. Numerous genetic abnormalities can be seen in AML. Here, we describe a case of a 34-year-old patient with AML-M5. Biopsy and immunophenotyping confirmed AML-M5, while conventional cytogenetic and fluorescence in situ hybridization (FISH) analysis revealed trisomy of chromosomes 7 and 12, and an isochromosome (i)(Xq10). Trisomies of such chromosomes and i(Xq10) in combination are rare and carry different prognostic significance. In this case, the patient died within three days of diagnosis, demonstrating a poor prognosis. Hence, identification of such numerical chromosomal abnormalities in AML-M5 can help in patient stratification, tailored medicine, and risk assessment.