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Chapter 14
Myeloproliferative neoplasms
Myeloproliferative neoplasms (MPNs) are a phenotypically diverse group of stem cell—derived clonal disorders characterized by proliferation of 1 or more of the components of the myeloid lineage (ie, erythroid, granulocytic, megakaryocytic, or mast cell). In 1951, William Dameshek first used the term myeloproliferative disorders (MPDs) and grouped together these 4 similar and overlapping clinicopathologic entities (ie, chronic myelogenous leukemia [CML], primary myelofibrosis [PMF], polycythemia vera [PV], and essential thrombocythemia [ET]). In 2008, the World Health Organization (WHO) revised the classification of MPDs and renamed this group of disorders as MPNs to underscore their clonal nature (Table 14-1). The
Epidemiology
Chronic myelogenous leukemia, BCR-ABL1 positive
Epidemiology Pathobiology Clinical features Diagnostic criteria Treatment Imatinib mesylate and other treatments aimed at achieving remission Second-generation TK inhibitors Stem cell transplantation Allogeneic transplantation Graft-versus-leukemia effect and reduced-intensity conditioning regimens Therapy for advanced disease Imatinib and cytoreductive therapies Allogeneic transplantation Course and prognosis Chronic phase Accelerated phase Blast phase (leukemic progression)
Chronic neutrophilic leukemia
Epidemiology Pathobiology Clinical features Diagnostic criteria Treatment Course and prognosis
Systemic mastocytosis
Epidemiology Pathobiology Clinical features Diagnostic criteria Treatment Course and prognosis
Myeloid (and lymphoid) neoplasms associated with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1
Myeloid and lymphoid neoplasms associated with PDGFRA rearrangement Epidemiology Pathobiology Clinical features Diagnostic criteria Treatment Course and prognosis Myeloid neoplasms associated with PDGFRB rearrangement Epidemiology Clinical features Diagnostic criteria Treatment Course and prognosis Myeloid and lymphoid neoplasms associated with FGFR1 abnormalities Epidemiology Pathobiology Clinical features Diagnostic criteria Treatment Course and prognosis
Chronic eosinophilic leukemia, not otherwise specified
Epidemiology Clinical features Diagnostic criteria Treatment Course and prognosis
Polycythemia vera
Pathobiology Clonality JAK2 mutations Other biologic abnormalities Clinical features Differential diagnosis Absolute polycythemia versus relative polycythemia Primary erythrocytosis versus secondary erythrocytosis Familial polycythemic states Diagnostic criteria and molecular testing Ambiguous cases Laboratory and histopathologic features Course and prognosis Disease progression and leukemic transformation Thrombohemorrhagic risk Therapy Phlebotomy Thromboprophylaxis and symptomatic therapy Acute thrombosis management Cytoreductive therapy Hematopoietic SCT Therapy for secondary AML in PV Pregnancy with PV
Essential thrombocythemia
Pathobiology Clonality JAK2/MPL mutations Other biologic features Clinical features Differential diagnosis and laboratory features Distinction from reactive thrombocytosis or other myeloid disorders Laboratory features Bone marrow and cytogenetic findings Course and prognosis Disease progression Thrombohemorrhagic risk Therapy General considerations Cytoreductive therapy Pregnancy Prevention and management of thrombosis and hemorrhage SCT or transformation to acute leukemia
Primary myelofibrosis
Pathobiology Marrow microenvironment, CD34+ cells, and clonality Cytogenetic and molecular findings Clinical features Diagnosis Laboratory features Clinical, morphologic, and histopathologic features Course and prognosis Therapy General considerations Anemia Splenomegaly Newer agents Stem cell transplantation
Myeloproliferative neoplasm, unclassifiable
Epidemiology Clinical features Course and prognosis | ||||||||||||||||||||||||||||||||||||||||||||||||||