Institution: Centrex Clinical Labs, Utica, NY
Session: AML with myelodysplasia-related changes
HISTORY
67 Year old male presented with leg swelling, and petechia. Further workup revealed marked anemia, thrombocytopenia and about 12% blasts with Auer rods.
Bone Marrow aspiration and biopsy revealed about 52% blasts with Auer rods. Patient was diagnosed as Acute Myeloid Leukemia, pending cytogenetic studies.He received induction chemotherapy with Idarubicin and Cytarabine in a 3 + 7 regimen, with, subsequent day 10 marrow showing chemoablation. The blood counts subsequently recovered. He also had consolidation chemotherapy. His treatment course was complicated by sepsis with positive blood cultures.Subsequently the patient developed pancytopenia, with bone marrow showing recurrent acute myelogenous leukemia.Re induction chemotherapy. Complicated by multiple relapses.DETAILS
At Diagnosis:
Posterior Iliac crest biopsy. Formalin fixed and paraffin embeded. Biopsy revealed 70% cellularity, with about 52% blasts. Blasts had 1-2 small nucleoli, and many with Auer rods. Mild dysplastic changes noted in the myeloid. First relapse: Similiar blasts morphologically as well as immunophenotypically.Subsequent relapse after reinduction chemotherapy showed 20-25% blasts with highly atypical pleomorphic nuclei. Single Auer rods persistent.IMMUNOHISTOCHEMISTRY AND FLOW CYTOMETRY
Blasts positive for CD34, MPO.Flow Cytometry: Blasts positive for CD13, CD33, CD34, CD4 (dim), CD11C, CD38, CD117, HLA-DR.Blasts negative for: CD 11B, CD10, CD14, CD16, CD56, CD64.
CYTOGENETIC FINDINGS
45,X,-Y[3]/45,sl,ins(2;4)(p15,q31.1q33),del(11)(q21q23)[1]/44,sdl1,add(8)(q22),-14[16]/46,XY[2]
MOLECULAR FINDINGS
Negative for ITD or Exon 20 point mutation in the FLT3 gene mutation.
INTERESTING FEATURES
Complex karyotype, with persistent karyotypic abnormality even during morphologic remission.
Multiple relapses.The blasts after the second re induction chemotherapy were highly pleomorphic, although immunophenotypically similar.PROPOSED DIAGNOSIS
Acute myeloid leukemia, with complex karyotype and 11q23 abnormality.
CONSENSUS DIAGNOSIS
Acute myeloid leukemia with myelodysplasia-related changes (complex karyotype)