Submitting Author: Bhagavathi, Sharathkumar, MD
Institution: UMDNJ - RWJMS
Additional authors:Hana Aviv, PhD
Session: AML with recurrent genetic mutations Part II

The patient is a 76 year old male with a history of fatigue and left facial numbness. He was found to have thrombocytopenia on CBC and underwent a bone marrow study. The bone marrow and flow cytometry findings are consistent with a diagnosis of acute myeloid leukemia. The patient underwent a standard induction (7+3 with Idarubicine and Cytaraine) followed by Azacytidine. The patient was in remission for a short period (5 months) and relapsed. Currently, he is under watchful observation without any recent chemotherapy.

Site: Right PSIC; Fixation: Buffered formalin.

Microscopic findings:

Peripheral smear: Showed increased blasts (38%) of medium to large cells with fine chromatin, 1-4 nucleoli, and moderate amount of cytoplasm. Occasional blast showed Auer rod.

Bone marrow aspirate smears: Showed increased blasts (59%) with similar morphology as that of peripheral smear blasts.

Bone marrow biopsy: Showed a hypercellular bone marrow (60% cellularity) with groups and sheets of blasts.

The flow cytometry analysis showed a CD45 dim with low side scatter population (65%) which coexpressed CD34, CD117, HLA-DR, CD13, CD33, CD7, CD71 and cytoplasmic myeloperoxidase. This population was negative for CD3 (surface and cytoplasmic), CD19, CD20 and CD79a (cytoplasmic).

47-48, +4, +mar1, mar2.ishmar1,mar2(C-MYC amp)[cp9]/46,XY(11)

Abnormal male karyotype with trisomy 4 and c-MYC amplification

Negative for FLT3, NPM1 and CEBPA mutations.

Acute myeloid leukemia with c-MYC amplification.

c-MYC amplification was presented in the form of marker chromosomes, ring chromosomes and double minutes.

Short remission period.

Acute myeloid leukemia with complex karyotypic abnormality and c-MYC amplification.

Acute myeloid leukemia with myelodysplasia-related changes with complex karyotype and MYC amplification

Case 129