Subject(s)
Fusion Proteins, bcr-abl/genetics , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Adolescent , Adult , Age Factors , Aged , B-Lymphocytes/immunology , Child , Female , Humans , Male , Middle Aged , Proto-Oncogene Proteins c-abl/immunology , Young AdultABSTRACT
Here, we report an unusual case of acute myeloid leukaemia with mutated NPM1 presenting with pancytopenia and leukoerythroblastosis, without circulating blasts and bone marrow necrosis with numerous Charcot-Leyden crystals, but no eosinophilia.
Subject(s)
Bone Marrow/metabolism , Bone Marrow/pathology , Leukemia, Myeloid, Acute/genetics , Leukemia, Myeloid, Acute/pathology , Lysophospholipase/metabolism , Mutation , Nuclear Proteins/genetics , Crystallization , Female , Humans , Leukemia, Myeloid, Acute/metabolism , Middle Aged , Necrosis , NucleophosminABSTRACT
Molecular testing for the BCR-ABL1 fusion gene by real time quantitative polymerase chain reaction (RT-qPCR) is the most sensitive routine approach for monitoring the response to therapy of patients with chronic myeloid leukaemia. In the context of tyrosine kinase inhibitor (TKI) therapy, the technique is most appropriate for patients who have achieved complete cytogenetic remission and can be used to define specific therapeutic milestones. To achieve this effectively, standardization of the laboratory procedures and the interpretation of results are essential. We present here consensus best practice guidelines for RT-qPCR testing, data interpretation and reporting that have been drawn up and agreed by a consortium of 21 testing laboratories in the United Kingdom and Ireland in accordance with the procedures of the UK Clinical Molecular Genetics Society.
