7. Heme II: Myeloid Neoplasms Ondemand-C07 Heme II Myeloid Neoplasms ADubuc Notes

C07 Heme II Myeloid Neoplasms ADubuc Notes

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This document provides an overview of myeloid neoplasms and their cytogenetic findings. It starts with a discussion of hematopoiesis and the discovery of the Philadelphia chromosome found in chronic myelogenous leukemia (CML). CML is the most common myeloproliferative neoplasm and is characterized by the t(9;22)(q34;q11.2) translocation, resulting in the BCR-ABL fusion gene. Other myeloproliferative neoplasms discussed include polycythemia vera (PV), primary myelofibrosis (MF), and essential thrombocytopenia (ET). Myelodysplastic syndromes (MDS), a heterogeneous group of myeloid disorders, are also covered, including common cytogenetic aberrations such as -5/5q, -7/7q, and -8. The document emphasizes that certain cytogenetic findings, such as -Y, +8, trisomy 15, and -20q, are not considered evidence of MDS in the absence of morphological criteria.<br /><br />The significance of cytogenetic findings in prognosis and diagnosis is explored, with particular attention given to MDS and acute myeloid leukemia (AML). Cytogenetic driver events and their implications in AML are discussed, including inv(16)/t(16;16) and AML with RUNX1-RUNX1T1 rearrangement, which have a good prognosis. Poor prognosis cytogenetic abnormalities, such as t(6;9)(p23;q24) and AML with inv(3), are also highlighted. The document emphasizes the importance of considering driver versus passenger events in the interpretation of cytogenetic findings.<br /><br />Finally, the document discusses acute promyelocytic leukemia (APL), which is characterized by the t(15;17)(q24.1;q21.1) translocation and is responsive to all-trans retinoic acid (ATRA). It also mentions the role of cytogenetics in the identification of molecular subgroups in myeloid diseases and the importance of distinguishing between driver and passenger events.

Keywords

myeloid neoplasms

cytogenetic findings

chronic myelogenous leukemia

CML

myelodysplastic syndromes

MDS

acute myeloid leukemia

AML

prognosis

acute promyelocytic leukemia