title: Mutational profiling in patients with MDS: ready for every-day use in the clinic?
abstract: Multiple recurrent somatic mutations were identified in the majority of patients with myelodysplastic syndromes (MDS), but investigating the broad spectrum of molecular markers in MDS exceeds many laboratories' capacity when traditional molecular techniques are used. High-throughput second generation sequencing (=next-generation sequencing, NGS) has proven to be applicable for comprehensive biomarker mutation analyses allowing to increase diagnostic sensitivity and accuracy and to improve risk stratification and prognostication in addition to cytomorphology and cytogenetic analysis in patients with MDS. Amplicon deep-sequencing enables comprehensive biomarker analysis in a multitude of patients per investigation in an acceptable turn-around time and at affordable costs. Comprehensive myeloid marker panels were successfully introduced into diagnostic practice. Therefore, molecular mutation analysis is ready for use in all patients with suspected MDS, may contribute to risk stratification in possible candidates for allogeneic stem cell transplantation, and should become an integral part of clinical research studies in MDS patients.
authors: MLL Munich Leukemia Laboratory, Munich, Germany.
authors: Ulrike
authors: U
authors: Bacher
authors: MLL Munich Leukemia Laboratory, Munich, Germany.
authors: Alexander
authors: A
authors: Kohlmann
authors: MLL Munich Leukemia Laboratory, Munich, Germany. Electronic address: torsten.haferlach@mll.com.
authors: Torsten
authors: T
authors: Haferlach
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D018450:Disease Progression; D015870:Gene Expression; D020869:Gene Expression Profiling; D059014:High-Throughput Nucleotide Sequencing / Q000191:economics / Q000379:methods*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D012680:Sensitivity and Specificity; D033581:Stem Cell Transplantation; D016019:Survival Analysis; D014184:Transplantation, Homologous
chemical_list: D000970:Antineoplastic Agents; D009363:Neoplasm Proteins
keywords: NGS; amplicon deep-sequencing; diagnostic algorithm; mutations; myelodysplastic syndrome (MDS); next-generation sequencing