ISSN: 2329-6917
+44 1300 500008
Christopher L. Corless
Tanzania
Case Report
Utility of Multiplex Mutation Analysis in the Diagnosis of Chronic Myelomonocytic Leukemia
Author(s): Daphne Ang, Guang Fan, Elie Traer, Tibor Kovacsovics, Nicky Leeborg, Marc Loriaux, Andrea Warrick, Carol Beadling, Susan Olson, Ken Gatter, Rita M. Braziel, Christopher L. Corless, Richard Press, and Jennifer Dunlap
Daphne Ang, Guang Fan, Elie Traer, Tibor Kovacsovics, Nicky Leeborg, Marc Loriaux, Andrea Warrick, Carol Beadling, Susan Olson, Ken Gatter, Rita M. Braziel, Christopher L. Corless, Richard Press, and Jennifer Dunlap
Chronic myelomonocytic leukemia (CMML) is a myeloid neoplasm characterized by both myeloproliferative and myelodysplastic features in addition to persistent peripheral blood monocytosis (>1×109/L) that is required for the diagnosis. Clonal cytogenetic abnormalities are identified in only 20%-30% of CMML patients and it can be diagnostically challenging to exclude reactive monocytosis in some cases. Several gene mutations have recently been implicated in the pathogenesis of CMML that involve tyrosine kinase-signaling pathways, transcriptional regulation, metabolism, splicing, and epigenetic regulatory mechanisms. This study was designed to assess recurrent mutations in CMML using a multiplex mass spectrometry based approach, and to determine the utility of mutation screening in CMML, particularly in cytogenetically normal cases. The Oregon Health and Science U.. View More»
DOI:
10.4172/2329-6917.1000114