Notice: Users may be experiencing issues with displaying some pages on stanfordhealthcare.org. We are working closely with our technical teams to resolve the issue as quickly as possible. Thank you for your patience.
 

Learn about the flu shot, COVID-19 vaccine, and our masking policy »

Stanford Health Care

Genomic landscape of Neutrophilic Leukemias of Ambiguous Diagnosis. Blood Zhang, H., Wilmot, B., Bottomly, D., Dao, K. T., Stevens, E., Eide, C. A., Khanna, V., Rofelty, A., Savage, S., Reister-Schultz, A., Long, N., White, L., Carlos, A., Henson, R. A., Lin, C., Searles, R., Collins, R. H., DeAngelo, D. J., Deininger, M. W., Dunn, T., Than, H., Luskin, M. R., Medeiros, B. C., Oh, S. T., Pollyea, D. A., Steensma, D. P., Stone, R. M., Druker, B. J., McWeeney, S. K., Maxson, J. E., Gotlib, J. R., Tyner, J. W. 2019

Abstract

Chronic neutrophilic leukemia (CNL), atypical chronic myeloid leukemia (aCML), and myelodysplastic/myeloproliferative neoplasms, unclassifiable (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 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 co-segregation of clinical and genetic disease features with transcriptional clusters. In conclusion, these group of diseases represent a continuum of related diseases rather than discrete diagnostic entities.

View details for DOI 10.1182/blood.2019000611

View details for PubMedID 31366621