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Published on: March 29, 2017
Genetic abnormalities in Waldenström's macroglobulinemia
Sophia Adamia1, Patrick M Pilarski, Andrew R Belch
1Department of Oncology, University of Alberta, and Dana-Farber Cancer Institute, Boston, MA, USA.
Clinical Lymphoma & Myeloma
|April 14, 2009
Summary
Genetic mutations in the hyaluronan synthase 1 (HAS1) gene are identified in Waldenstrom macroglobulinemia (WM) patients. These acquired HAS1 mutations may initiate cancer development and progression in WM.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- The genetic underpinnings of Waldenstrom macroglobulinemia (WM) remain largely unidentified.
- Potential genetic factors include inherited polymorphisms and acquired somatic mutations crucial for oncogenesis.
Purpose of the Study:
- To investigate mutations within the hyaluronan synthase 1 (HAS1) gene in WM patients.
- To determine if HAS1 mutations are inherited or acquired and their role in WM development.
Main Methods:
- Intensive sequencing of the HAS1 gene (exons and introns) was performed.
- Analysis included both malignant and normal cells from WM patients, as well as CD34+ progenitor cells.
Main Results:
- Both inherited and acquired mutations in HAS1 exons and introns were identified in WM patients.
- Acquired HAS1 mutations were present in malignant cells and also in CD34+ progenitor cells.
Conclusions:
- Acquired HAS1 mutations are detected early, preceding overt WM malignancy.
- These mutations likely play a role in the initial transformation events and progression of WM.
