Myelodysplastic syndromes without peripheral monocytosis but with evidence of marrow monocytosis share clinical and molecular characteristics with CMML

Autor: Beate Betz, Corinna Strupp, Norbert Gattermann, Barbara Hildebrandt, Tobias Schroeder, Martina Rudelius, Esther Schuler, Ulrich Germing, Rainer Haas, Carlo Aul, F. Frank
Rok vydání: 2017
Předmět:
Neuroblastoma RAS viral oncogene homolog
Male
Cancer Research
Myeloid
Group A
Monocytes
chemistry.chemical_compound
0302 clinical medicine
Mutation Rate
Bone Marrow
hemic and lymphatic diseases
Platelet
Aged
80 and over

education.field_of_study
Serine-Arginine Splicing Factors
Esterases
Nuclear Proteins
Leukemia
Myelomonocytic
Chronic

Hematology
Middle Aged
Prognosis
DNA-Binding Proteins
medicine.anatomical_structure
Oncology
RUNX1
030220 oncology & carcinogenesis
Core Binding Factor Alpha 2 Subunit
Female
Adult
Population
Dioxygenases
03 medical and health sciences
Monocytosis
Proto-Oncogene Proteins
medicine
Biomarkers
Tumor

Humans
Genetic Testing
education
Aged
Cell Proliferation
business.industry
Myelodysplastic syndromes
medicine.disease
Repressor Proteins
Genes
ras

chemistry
Myelodysplastic Syndromes
Immunology
Mutation
business
Carrier Proteins
030215 immunology
Zdroj: Leukemia research. 65
ISSN: 1873-5835
Popis: 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.
Databáze: OpenAIRE