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Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
High-resolution single-nucleotide polymorphism array-profiling in myeloproliferative neoplasms identifies novel
Frank Stegelmann1, Lars Bullinger, Martin Griesshammer
1Department of Internal Medicine III, University Hospital of Ulm, Albert-Einstein-Allee 23, 89081 Ulm, Germany.
Haematologica
|December 18, 2009
Summary
Single-nucleotide polymorphism arrays revealed novel genomic aberrations, particularly small deletions in myelofibrosis patients. Further research is needed to understand the genetic mechanisms driving myeloproliferative neoplasms.
Area of Science:
- Genetics
- Oncology
Background:
- Single-nucleotide polymorphism (SNP) arrays enable high-resolution genome-wide profiling of copy-number alterations (CNAs) and copy-neutral runs of homozygosity.
- Myeloproliferative neoplasms (MPNs) are a group of clonal hematopoietic stem cell disorders characterized by the overproduction of one or more myeloid lineages.
Purpose of the Study:
- To identify novel genetic lesions in myeloproliferative neoplasms using high-resolution SNP arrays.
- To investigate the spectrum of genomic aberrations in essential thrombocythemia, polycythemia vera, and myelofibrosis.
Main Methods:
- Genome-wide profiling of 151 clinically characterized MPN patients using single-nucleotide polymorphism arrays.
- Analysis of copy-number alterations and copy-neutral aberrations.
- Sequencing analysis for targeted gene mutations.
Main Results:
- Copy-number alterations were infrequent in essential thrombocythemia and polycythemia vera.
- Approximately one-third of myelofibrosis patients displayed small genomic losses (<5 Mb).
- The tumor suppressor gene NF1 was affected in two secondary myelofibrosis cases, with one exhibiting a mutation in the remaining allele.
Conclusions:
- Novel genomic aberrations, especially small deletions, were identified in myelofibrosis patients.
- Further single-gene analyses are crucial to elucidate the pathogenic mechanisms in myeloproliferative neoplasms.
