Acute Myeloid Leukemia With Recurrent Cytogenetic Abnormalities

Abstract

This review focuses on providing updated recommendations for the rapid diagnosis of APL, discussing the types and significance of variant RARA mutations in APL-like leukemias, and refining low-blast-count (oligoblastic) AML. In addition, the significance of unique morphologic, immunophenotypic, and genetic variations in AML defined by a recurrent cytogenetic abnormality is included.

Flow cytometric analysis of CD64 expression pattern and density in the diagnosis of acute promyelocytic leukemia: a multi-center study in Shanghai, China

“…Furthermore, fluorescence in situ hybridization (FISH) and reverse transcriptase-polymerase chain reaction (RT-PCR) analyses for the detection of abnormal RARα fusion genes (e.g. PML-RARα, NPM-RARα) are typically performed only on suspicious cases [ 3 , 4 ]. Moreover, cytogenetic analysis of the t(15;17)(q22;q21) and other rare variant chromosome translocations using karyotyping is time-consuming and limited by the number of leukemia cells in collected specimens.…”

Lenalidomide Plus Hypomethylating Agent as a Treatment Option in Acute Myeloid Leukemia With Recurrent Genetic Abnormalities—AML With inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM

“…AML with inv(3)(q21.3q26.2) or t (3;3)(q21.3;q26.2); GATA2, MECOM accounts for 1% to 2% of all forms of AML. [4][5][6][7] This subtype has been associated with a younger age at diagnosis, poor response to standard induction chemotherapy, and very poor longterm prognosis. 6,7 The OS of these patients has been < 10%, with a median survival of~1.5 years.…”

“…Previously, we reported the case of a patient with AML with inv(3)(q21.3q26.2) who had successfully received induction chemotherapy with a combination of an HMA with lenalidomide and achieved CR. 4 Because the traditional therapies are known to have limited effectiveness with this form of AML, patients at the University of Michigan have often been offered lenalidomide plus an HMA as salvage or induction therapy as a part of the typical clinical care. To further address the effectiveness of this regimen for patients with AML with inv(3)(q21.3q26.2); GATA2, MECOM, we performed a retrospective cohort study to compare the outcomes with an HMA plus lenalidomide with those with standard intensive induction chemotherapy and in the salvage setting for those with relapsed/refractory disease.…”

CD 117: Lineage assigning marker in acute myeloid leukemias

“…2,3 According to the widely used World Health Organisation (WHO) criteria, the diagnosis of AML is established by demonstrating involvement of more than 20% of the blood and/or bone marrow by leukemic myeloblasts, except in the three best prognostic forms of acute myeloid leukemia with recurrent genetic abnormalities [AML with t (8;21), AML with inv (16), and AML with PML-RARα] in which the presence of the genetic abnormality is diagnostic irrespective of blast percentage. 4,5 The patient can present from leukopenia to hyperleucocytosis with an elevated blood blast count. 6 Cytochemical stains on blood and bone marrow smears are often helpful in the distinction of AML from ALL and in subclassification of AML.…”