Case Report

Myelodysplastic Syndrome/Acute Myeloid Leukemia Arising in Idiopathic Erythrocytosis

Table 1

Hematological indices and molecular analysis throughout the patient’s clinical course.

Time (months)HbHCTRCCPLTWCCEosBM blasts (IP/morphology)Mutations detected (variant allele frequency)

Dx20.40.596.201405.81.0
4116.20.496.291586.80.9SH2B3 p.W262R (52.4%)
14919.70.586.78758.11.9SH2B3 p.W262R (45.9%)CBL p.L380P (3.6%)
1578.90.262.621124.00.24%/0%
15910.10.303.001063.30.18%/6%
16110.10.293.19356.10.415%/22%SH2B3 p.W262R (56.8%)CBL p.L380P (37.2%)

Hb: hemoglobin (g/dL); HCT: hematocrit; RCC: red cell count (×1012/L); PLT: platelet count (×109/L); WCC: white cell count (×109/L); Eos: eosinophil count (×109/L); BM blasts: bone marrow myeloblasts; IP: immunophenotyping; Dx: diagnosis.