Myelodysplastic syndromes without peripheral monocytosis but with evidence of marrow monocytosis share clinical and molecular characteristics with CMML.
MDS patients may present with monocytic marrow proliferation not fulfilling criteria for CMML. We analyzed MDS patients with or without a marrow monocytic proliferation by following up the amount of monocytic proliferation and characterizing their molecular profile. 315 MDS patients of Duesseldorf MDS registry were divided into two groups: A) 183 patients with monocytic esterase positive cells in marrow and monocytes between 101 and 900/μl in blood and B) 132 patients without monocytic esterase positive cells in marrow and monocytes in blood ≤100/μl. Twenty patients of each group were screened with regard to ASXL1, TET2, RUNX1, SETBP1, NRAS, and SRSF2 using Illumina myeloid panel. Group A patients were older, had significantly higher WBC, hemoglobin levels, neutrophils and platelets. CMML evolution rates were 4.9% and 1.5%, respectively (p=n.s.). TET2, NRAS and SRFS2 mutation frequencies were higher in group A and four patients had coexisting TET2 and SRFS2 mutation, which was shown to be characteristic but not specific for CMML. MDS patients with marrow monocytic proliferation have a more CMML-like pheno- and genotype and develop CMML more often. Those patients could potentially be very early stages of CMML or represent a CMML-like myeloid neoplasma with marrow adherence of the monocytic cell population.
['Schuler|E|E|', 'Frank|F|F|', 'Hildebrandt|B|B|', 'Betz|B|B|', 'Strupp|C|C|', 'Rudelius|M|M|', 'Aul|C|C|', 'Schroeder|T|T|', 'Gattermann|N|N|', 'Haas|R|R|', 'Germing|U|U|']
D000328:Adult D000368:Aged D000369:Aged, 80 and over D014408:Biomarkers, Tumor D001853:Bone Marrow D002352:Carrier Proteins D049109:Cell Proliferation D050676:Core Binding Factor Alpha 2 Subunit D004268:DNA-Binding Proteins D049308:Dioxygenases D004950:Esterases D005260:Female D011905:Genes, ras D005820:Genetic Testing D006801:Humans D015477:Leukemia, Myelomonocytic, Chronic D008297:Male D008875:Middle Aged D009000:Monocytes D009154:Mutation D059645:Mutation Rate D009190:Myelodysplastic Syndromes D009687:Nuclear Proteins D011379:Prognosis D011518:Proto-Oncogene Proteins D012097:Repressor Proteins D000068103:Serine-Arginine Splicing Factors
Monocytosis CMML MDS MDS/MPN-overlap WHO classification