Diagnosis And Classification Of Myeloproliferative And Myelodysplastic Disorders

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Myeloproliferative and myelodysplastic syndromes, two diverse groups of bone marrow disorders, are respectively characterized by an overproliferation or ineffective production of various blood cells. The clinical laboratory plays a prominent role in the diagnosis and classification of myeloproliferative and myelodysplastic disorders, each of which presents a unique set of morphologic, pathophysiologic, and genetic traits. The contemporary diagnosis and categorization of these syndromes emphasizes a combination of hematologic bone marrow characterization and gene mutation studies.

Myeloproliferative neoplasms (MPNs) are characterized by the proliferation of one or more cell types of the myeloid lineage, including erythroid, granulocytic, monocytic, or megakaryocytic lineages. These disorders are clonal and originate from a single pluripotent hemapoietic stem cell (Hubbard, 2011). MPNs have a slow onset and are mainly diagnosed in adults between 45 and 55 years of age. Clinical symptoms include anemia, weight loss, lack of energy, spleen enlargement, fever, and bruising (Hubbard, 2011).
The major diagnostic criterion for chronic myelogenous leukemia (CML) is the presence of the Philadelphia chromosome (Ph+), a reciprocal translocation between chromosomes 9 and 22, and the presence of the BCR/ABL1 fusion gene. Peripheral blood shows leukocytosis (>100×109 WBC/L), a predominance of myelocytes and segmented neutrophils
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