Genomic landscape of Neutrophilic Leukemias of Ambiguous Diagnosis

Chronic neutrophilic leukemia (CNL), atypical chronic myeloid leukemia (aCML), and unclassified myelodysplastic syndrome/myeloproliferative neoplasms (MDS/MPN-U) are a group of rare, heterogeneous myeloid disorders. There is strong morphologic resemblance amongst these distinct diagnostic entities as well as lack of specific molecular markers and limited understanding of disease pathogenesis, which has made their diagnosis challenging. Treatment has remained empirical, resulting in dismal outcomes. We, therefore, performed whole exome and RNA-sequencing on a cohort of over 100 cases of these rare hematologic malignancies and present the most complete survey of the genomic landscape of these diseases to date. [Abstract from manuscript currently under review so copyright not yet determined]]]> All patients with a presumed diagnosis of CNL, aCML, MDS/MPNu, or CMML were eligible for specimen collection on this study (listed at clinicaltrails.gov - NCT 01728402).]]> The study was approved by the Institutional Review Boards (IRB) from University of Texas Southwestern Medical Center, University of Colorado, Stanford University, Washington University in St. Louis, University of Utah, Dana-Farber Cancer Institute, and Oregon Health & Science University. Samples were obtained with written, informed consents obtained from all patients according to the Declaration of Helsinki.]]>