Genomic landscape of neutrophilic leukemias of ambiguous diagnosis

Haijiao Zhang, Beth Wilmot, Daniel Bottomly, Kim-Hien T Dao, Emily Stevens, Christopher A Eide, Vishesh Khanna, Angela Rofelty, Samantha Savage, Anna Reister Schultz, Nicola Long, Libbey White, Amy Carlos, Rachel Henson, Chenwei Lin, Robert Searles, Robert H Collins, Daniel J DeAngelo, Michael W Deininger, Tamara Dunn, Than Hein, Marlise R Luskin, Bruno C Medeiros, Stephen T Oh, Daniel A Pollyea, David P Steensma, Richard M Stone, Brian J Druker, Shannon K McWeeney, Julia E Maxson, Jason R Gotlib, Jeffrey W Tyner
Blood 2019 September 12, 134 (11): 867-879
Chronic neutrophilic leukemia (CNL), atypical chronic myeloid leukemia (aCML), and myelodysplastic/myeloproliferative neoplasms, unclassifiable (MDS/MPN-U) are a group of rare and heterogeneous myeloid disorders. There is strong morphologic resemblance among these distinct diagnostic entities as well as a lack of specific molecular markers and limited understanding of disease pathogenesis, which has made diagnosis challenging in certain cases. The treatment has remained empirical, resulting in dismal outcomes. We, therefore, performed whole-exome and RNA sequencing of these rare hematologic malignancies and present the most complete survey of the genomic landscape of these diseases to date. We observed a diversity of combinatorial mutational patterns that generally do not cluster within any one diagnosis. Gene expression analysis reveals enrichment, but not cosegregation, of clinical and genetic disease features with transcriptional clusters. In conclusion, these groups of diseases represent a continuum of related diseases rather than discrete diagnostic entities.

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