PMC5948813_01
a Bone marrow aspirate at diagnosis depicting red cell anisopoikilocytosis, hypogranular platelets, myeloblasts and monoblasts/promonocytes. b Bone marrow aspirate after induction chemotherapy depicting red cell dysplasia with intercytoplasmic bridging and occasional myeloblasts. c Bone marrow aspirate after stem cell transplant depicting a normal haematopoietic maturation and no myeloblasts or monoblasts seen
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Fig1
On morphological analysis, her bone marrow was moderately cellular, with dysplastic changes as well as increased numbers of myeloblasts and monoblasts/promonocytes, indicative of AML with myelodysplastic changes (Fig. 1a). Post-induction evaluation of her bone marrow revealed a regenerating bone marrow in morphological remission with myelodysplastic changes (Fig. 1b), as well as 0.3% residual disease, measured using Flow Cytometry. A post-transplant bone marrow aspirate after count recovery showed a normocellular reactive marrow (Fig. 1c) and 0% residual disease on Flow Cytometry.
Capillary electropherogram obtained from the ABI PRISM 3700 genetic analyzer. Double peaks are observed from the nucleotide at marker position 42 (indicated above), revealing 2 different sequences: Sequence #1: AA GTC GCC ACC TAC CAC AGA GCC AT (wild-type). Sequence #2: -- --- --C ACC TAC CAC AGA GCC ATC AAA ATC (7-bp deletion)
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Fig2
Initial molecular testing by conventional Sanger sequencing revealed the same novel RUNX1 mutation in the patient, her father and 3 brothers (Fig. 2).
Mutations detected in pre-treatment, post-treatment and post-transplant PB or BM samples
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Fig3
The comprehensive list of mutations, including the hitherto unreported germline RUNX1 mutation, identified in the pre-treatment, post-treatment and post-haplo-SCT blood samples can be found in (Table 2; Fig. 3).