case_images: PMC11398955_01
case_images: Photographs of peripheral blood and bone marrow smear. (a) Peripheral blood showed maturing granulocytic series with dysmorphic monocytes and all stages represented mature neutrophils. (b) Bone marrow aspirates showed a predominance of blasts and abnormal promonocytes morphologically with abnormal infiltrate identified as monocytic on immunophenotyping.
case_images: CRIHEM2024-7151394.001.jpg
case_images: PMC11398955_01_CRIHEM2024-7151394.001.jpg
case_images: fig1
case_images: Peripheral blood film (Figure 1) showed a leucocytosis with 40% of cells showing a combination of dysmorphic monocytes and promonocytes. However, morphological review of the bone marrow aspirate by an experienced haematologist reported a monocytic infiltrate with a predominance of blasts and abnormal promonocytes (Figure 1), highlighting a lack of consensus between reporting haematologists and pathologists.
case_images: Molecular MRD monitoring via KMT2A::ELL. Transcript fusion site in the mRNA is shown below. (a) Patient specific KMT2A::ELL fusion transcript. (b) Molecular MRD monitoring over time. Red filling = bone marrow aspirate. Filled symbol = MRD detected at this level. Hollow symbol = MRD negative at this level of sensitivity.
case_images: CRIHEM2024-7151394.002.jpg
case_images: PMC11398955_01_CRIHEM2024-7151394.002.jpg
case_images: fig2
case_images: Following RNA-based NGS testing, a KMT2A::ELL fusion was detected (Figure 2(a)), consistent with the t(11;19) (q23;p13.1) found in the cytogenetic study. Follow-up bone marrow aspirates immediately before and one month after transplant were negative by molecular MRD (Figure 2(b)).