Morphological markers of chromosomal instability in bone marrow aspiration and trephine biopsy of acute leukemia and myelodysplastic syndrome

The role of chromosomal instability (CI) in oncogenesis is very well described in solid tumours, but there are a lack of studies on haematology malignancy, especially with multiple morphological markers. The study aims to analyze seven morphological markers of CI- chromatin bridges (CB), multipolar mitosis (MPM), nuclear budding (NB), micronuclei (MN), nuclear heterogeneity (NH), laggards, chromatin strings (CS) in bone marrow aspirate (BMA) and biopsy of acute leukaemia (AL), and myelodysplastic syndrome (MDS). It is a retrospective cross-sectional analytical study where BMA and biopsy were reviewed for CI markers. We compared CI markers in five categories. CI markers were further correlated with clinical manifestations and outcomes of patients. The study included 54 samples of 37 patients. Overall, the median (IQR) of markers were as follows: MN 3.5 (1,7), NB 5 (1,18), MPM 1 (0,4), CB 1(0,2), Laggards 0 (0,1), and CS 2.5 (0,6). NH was noted in 65.4% of samples. All CI markers except laggards were significantly increased in B-ALL, AML, and MDS compared to other categories. Many CI markers were significantly raised with a few clinical features. The MN, MPM, Laggard, and NH markers were significantly increased in the dead patients compared to those who survived. The study, one of the first to analyze multiple CI markers, revealed that the CI markers were significantly increased in AL and MDS patients and significantly associated with clinical manifestations and outcomes. Morphology markers of CI are valuable and cost-effective in diagnostic strategy, type of malignancies, and assessing prognosis.