J Menezes1, H Makishima2, I Gomez2,3, F Acquadro1, G Gómez-López4, O Graña4, A Dopazo5, S Álvarez1, M Trujillo6, D G Pisano4, J P Maciejewski2 and J C Cigudosa1

1Molecular Cytogenetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre—CNIO, Madrid, Spain
2Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA
3Service of Hematology, Hospital Universitario La Fe, Valencia, Spain
4Bioinformatic Unit, Structural Biology and Biocomputing Program, Spanish National Cancer Research Centre—CNIO, Madrid, Spain
5Genomics Unit, Centro Nacional de Investigaciones Cardiovasculares, (CNIC), Madrid, Spain
6Hematology and Hemotherapy Service, Ntra. Sra. de Candelaria Hospital, Santa Cruz de Tenerife, Spain

Mutations in CSF3R have been recently defined as the common genetic event in patients with myeloid neoplasms, including the rare entity known as chronic neutrophilic leukemia (CNL),1, 2, 3 becoming a potentially useful biomarker for diagnosing and therapy target.4 CSF3R encodes the transmembrane receptor for granulocyte colony-stimulating factor (G-CSF; CSF3), which provides the proliferative and survival signal for granulocytes and also contributes to their differentiation and function.5 Although there are several studies on massive next-generation sequencing of myeloid disorders, not a single comprehensive study has been reported in CNL. Here, we used whole-exome sequencing (WES) and RNA sequencing (RNA-seq) to identify new candidate genes to the disease pathogenesis of an index CNL patient.

Blood Cancer Journal
3, e158