#00062851

The patient was a 67 years old female, whose Peripheral blood examination had shown TLC of 240,000/cumm, with 85% blast cells, most showing characteristic cup-shaped nuclear morphology.

Hemoglobin was 9gm/dL and platelet count 50,000/cumm

Bone marrow aspirate again showed blasts with similar morphology, amounting to 88% of total nucleated cells.

Owing to the morphology, NPM1 muation analysis was done by PCR and gene sequence (qualitative).  Mutation A in Exon 12 of NPM1 gene with reported sequence CAA GAT CTC TG(T CTG) GCA GTG G was detected as compared to wild type sequence CAA GAT CTC TGG CAG TGG. (Mutation observed was a result of insertion of nucleotide TCTG).

In addition, Internal Tandem Duplication (ITD) mutation of FLT3 gene was detected by PCR gel electrophoresis in leukocytes. D835 was not detected.

RT-PCR and gel electrophoresis done for translocations AML1/ETO (RUNX1/RUNX1T1), PML/RARa and inv16, all were not detected in the EDTA bone marrow aspirate specimen.

Final diagnosis: AML with mutated NPM1 and FLT3 (ITD)