Myeloproliferative neoplasm differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2] Shyam Patel [3]

Overview

Myeloproliferative neoplasm must be differentiated from myelodysplastic syndrome, acute myelogenous leukemia, acute lymphoblastic leukemia, and waldenstrom macroglobulinemia.

Differentiating Myeloproliferative neoplasm from other Diseases

Characteristic	Causes	Laboratory abnormalities	Physical examination	Therapy	Other associations
Myeloproliferative neoplasm	JAK2 mutation CALR mutation MPL mutation BCR-ABL translocation CSF3R mutation SETBP1 mutation PDGFRA or PDGFRB rearrangement	Elevated hemoglobin Elevated white blood cell count Elevated platelet count Elevated eosinophil and/or neutrophil count Bone marrow fibrosis	Splenomegaly Hepatomegaly Evidence of infection Pallor	Ruxolitinib Hydroxyurea Anagrelide Imatinib Midostaurin Stem cell transplant	Variable features based on the subtype of myeloproliferative neoplasm
Myelodysplastic syndrome	Prior exposure to alkylating agents Prior exposure to topoisomerase II inhibitors Age-related changes in hematopoietic stem cells Deletion of chromosome 5q or 7 Gain of chromosome 8	Dysplasia in at least 10% of cells of at least 1 cell line Low white blood cell count Anemia Neutropenia Thrombocytopenia	Mucosal bleeding Petechiae Ecchymoses Evidence of infection Pallor	Lenalidomide Decitabine Azacitidine Erythropoiesis-stimulating agents (ESAs) Granulocyte colony-stimulating factor (G-CSF) Transfusion support Stem cell transplant for high-risk myelodysplastic syndrome	Age-related changes in the bone marrow contribute to myelodysplastic syndrome
Acute myeloid leukemia	Chromosomal instability Sporadic mutations Prior exposure to benzene Prior exposure to alkylating agents Prior exposure to topoisomerase II inhibitors Germline RUNX1 mutation	Anemia Thrombocytopenia Neutropenia Elevated LDH Elevated uric acid Elevated phosphorus Elevated potassium Low calcium Greater than 20% myeloblasts on bone marrow aspirate	Pyrexia Evidence of infection Pallor Mucosal bleeding Bruising	Cytarabine Anthracycline Enasidenib Liposomal daunorubicin plus cytarabine Gemtuzumab ozogamycin Midostaurin Stem cell transplant	Variable prognosis based on cytogenetic and molecular profile Four new FDA-approved therapies became available in 2017
Acute lymphoblastic leukemia	Chromosomal instability Sporadic mutations	Anemia Thrombocytopenia Neutropenia Elevated LDH Elevated uric acid Elevated phosphorus Elevated potassium Low calcium Greater than 20% lymphoblasts on bone marrow aspirate	Neurologic deficits Pallor Lymphadenopathy	HyperCVAD (cyclophosphamide, vincristine, doxorubicin, dexamethasone) R-HyperCVAD (inclusion of rituximab) Peg-asparaginase Intrathecal methotrexate Intrathecal cytarabine Blinatumomab (bispecific T cell engager) Inotuzumab ozogamycin (anti-CD22 antibody) Tisagenlecleucel (chimeric antigen receptor T (CAR-T) cell therapy) Stem cell transplant	Sanctuary sites include the central nervous system (CNS) and testes
Waldenstrom's macroglobulinemia	MYD88 mutation Lymphoplasmacytic cell proliferation	Elevated immunoglobulin M (IgM) paraprotein Presence of M-spike on protein electrophoresis Elevated serum free light chains (kappa and lambda) Increased serum viscosity	Hepatomegaly Splenomegaly Retinal vascular dilation and thrombosis Decreased visual acuity Headache	Rituximab Ibrutinib Plasmapheresis	MYD88 mutation testing is standard-of-care Plasmapheresis should be initiated if symptoms of hyperviscosity are present Typically does not require stem cell transplant
Lymphoproliferative disorder	Epstein-Barr virus (EBV) Human immunodeficiency virus (HIV) Human T cell lymphotrophic virus-1 (HTLV-1) Post-transplant status (post-transplant lymphoproliferative disorder (PTLD)) Chromosomal instability Sporadic mutations Rheumatologic disease	Elevated lymphocyte count with presence of clonality Anemia Thrombocytopenia Neutropenia	Lymph node enlargement Splenomegaly Hepatomegaly	Variable based on the etiology Cytotoxic chemotherapy Antiviral agents Biologic therapy with anti-CD20 monoclonal antibodies Tapering immunosuppressive medications (for post-transplant lymphoproliferative disorder)	Can be due to a variety of causes Variable prognosis