DZI19-175-Case-3

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Clinical history

20-month old boy with splenomegaly, thrombocytosis, severe anemia and peripheral blasts WBC: 29.6; HGB: 4.7; HCT: 13.4%; MCV: 85.9 fL; PLT: 900 (Diff: 36% polys; 30% lymphs; 12% monos; 6% eos; 2% basos; 1% myelocytes; 13% blasts; 12 nRBCs/100WBC). Peripheral blood smear. What is your differential diagnosis? Two days later, after RBCs and fluids: WBC: 8.1; HGB: 9.2; HCT: 25.2; MCV: 85 fL; PLT: 250 (Diff: 47% polys; 29% lymphs; 7% monos; 8% blasts; 7% eos; 2% basos; 2% metas Bone marrow biopsy (HE, reticulin stain) and touch prep (clot). What is your differential diagnosis?

Diagnosis

Juvenile chronic myelomonocytic leukemia (JMML), with some atypical features in the setting of neurofibromatosis type I

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Sequence	Case	Clinical history	Diagnosis
1	DZI19-175-Case-1 DZI19-175-Case-1	83 yo woman with leukocytosis (WBC: 50; 75% polys), mild anemia (HB 11.4; HCT: 36%) and thrombocytopenia (PLT: 109). Peripheral blood and bone marrow biopsy (HE & Giemsa). What is the differential diagnosis? 83 yo woman with leukocytosis (WBC: 50; 75% polys), mild anemia (HB 11.4; HCT: 36%) and thrombocytopenia (PLT: 109). Peripheral blood and bone marrow biopsy (HE & Giemsa). What is the differential diagnosis?	Systemic mastocytosis with an associated hematological neoplasm (MPN-U) Systemic mastocytosis with an associated hematological neoplasm (MPN-U)
2	DZI19-175-Case-2 DZI19-175-Case-2	55 yo man with history of Ewing sarcoma. Now decreasing WBC and bony lesions. Bone marrow biopsy. The neoplastic cells are CD45– (maybe rare cells staining?), keratin -, CD34- CD117- MPO- CD56- CD19- CD20- TdT- CD64- CD33- CD13- CD138- lysozyme- FLI-1- CD99+. What is your diagnosis? 55 yo man with history of Ewing sarcoma. Now decreasing WBC and bony lesions. Bone marrow biopsy. The neoplastic cells are CD45– (maybe rare cells staining?), keratin -, CD34- CD117- MPO- CD56- CD19- CD20- TdT- CD64- CD33- CD13- CD138- lysozyme- FLI-1- CD99+. What is your diagnosis?	Therapy-related pure acute erythroid leukemia Therapy-related pure acute erythroid leukemia
3	DZI19-175-Case-3 DZI19-175-Case-3	20-month old boy with splenomegaly, thrombocytosis, severe anemia and peripheral blasts WBC: 29.6; HGB: 4.7; HCT: 13.4%; MCV: 85.9 fL; PLT: 900 (Diff: 36% polys; 30% lymphs; 12% monos; 6% eos; 2% basos; 1% myelocytes; 13% blasts; 12 nRBCs/100WBC). Peripheral blood smear. What is your differential diagnosis? Two days later, after RBCs and fluids: WBC: 8.1; HGB: 9.2; HCT: 25.2; MCV: 85 fL; PLT: 250 (Diff: 47% polys; 29% lymphs; 7% monos; 8% blasts; 7% eos; 2% basos; 2% metas Bone marrow biopsy (HE, reticulin stain) and touch prep (clot). What is your differential diagnosis? 20-month old boy with splenomegaly, thrombocytosis, severe anemia and peripheral blasts WBC: 29.6; HGB: 4.7; HCT: 13.4%; MCV: 85.9 fL; PLT: 900 (Diff: 36% polys; 30% lymphs; 12% monos; 6% eos; 2% basos; 1% myelocytes; 13% blasts; 12 nRBCs/100WBC). Peripheral blood smear. What is your differential diagnosis? Two days later, after RBCs and fluids: WBC: 8.1; HGB: 9.2; HCT: 25.2; MCV: 85 fL; PLT: 250 (Diff: 47% polys; 29% lymphs; 7% monos; 8% blasts; 7% eos; 2% basos; 2% metas Bone marrow biopsy (HE, reticulin stain) and touch prep (clot). What is your differential diagnosis?	Juvenile chronic myelomonocytic leukemia (JMML), with some atypical features in the setting of neurofibromatosis type I Juvenile chronic myelomonocytic leukemia (JMML), with some atypical features in the setting of neurofibromatosis type I
4	DZI19-175-Case-4 DZI19-175-Case-4	39 yo man with fatigue, chills, back pain & anemia (WBC 4.5; HGB 10.2; HCT 32.2; MCV: 85.4; PLT: 330; Normal differential) Workup included imaging which showed a T9 sclerotic lesion, diffuse bony infiltration, enlarged cervical nodes. Bone marrow biopsy and lymph node biopsy. What are your diagnosis? 39 yo man with fatigue, chills, back pain & anemia (WBC 4.5; HGB 10.2; HCT 32.2; MCV: 85.4; PLT: 330; Normal differential) Workup included imaging which showed a T9 sclerotic lesion, diffuse bony infiltration, enlarged cervical nodes. Bone marrow biopsy and lymph node biopsy. What are your diagnosis?	: Primary myelofibrosis, overt fibrotic type and myeloid sarcoma, erythroblastic type (lymph node) : Primary myelofibrosis, overt fibrotic type and myeloid sarcoma, erythroblastic type (lymph node)
5	DZI19-175-Case-5 DZI19-175-Case-5	23 yo man with CML in chronic phase now with increasing circulating blastsWBC 50; HGB 11.2; HCT 32.2; MCV: 85.4; PLT: 330 Diff: 42% polys; 11% metas; 3% promyelocytes: 17% basos; 6% eos; 8% blasts; 13% lymphs.Peripheral blood smear, bone marrow biopsy and aspirate smear Is it still CML chronic phase or is it accelerated phase? 23 yo man with CML in chronic phase now with increasing circulating blastsWBC 50; HGB 11.2; HCT 32.2; MCV: 85.4; PLT: 330 Diff: 42% polys; 11% metas; 3% promyelocytes: 17% basos; 6% eos; 8% blasts; 13% lymphs.Peripheral blood smear, bone marrow biopsy and aspirate smear Is it still CML chronic phase or is it accelerated phase?	Chronic myeloid leukemia, BCR-ABL1+, in myeloid blast crisis (followed by lymphoid blast crisis) Chronic myeloid leukemia, BCR-ABL1+, in myeloid blast crisis (followed by lymphoid blast crisis)

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