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PTEN gene alterations in lymphoid neoplasms
A Sakai1, C Thieblemont, A Wellmann
1Hematopathology Section, Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Blood
|October 27, 1998
Summary
Alterations in the PTEN tumor suppressor gene were found in a small fraction of lymphoid neoplasms, including cell lines and primary lymphomas. These PTEN gene abnormalities may play a role in the development of certain lymphomas.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- The PTEN gene, a tumor suppressor, is frequently altered in various human cancers.
- Previous studies linked PTEN alterations to epithelial cancers and glioblastoma.
Purpose of the Study:
- To investigate the role of PTEN gene alterations in the pathogenesis of lymphoid neoplasms.
- To analyze PTEN gene status in hematopoietic cell lines and primary lymphoid tumors.
Main Methods:
- Southern blot analysis for gene deletion and rearrangement.
- PCR-single-strand conformation polymorphism (PCR-SSCP) and sequencing for mutation detection.
- Analysis of 27 cell lines, 65 primary lymphoid tumors, and 25 nonmalignant lymph node controls.
Main Results:
- PTEN alterations were identified in 22.2% of cell lines and 4.6% of primary lymphomas.
- Specific mutations included homozygous deletions, insertions, and nucleotide variations.
- Intronic deletions near a splice site were observed but their significance remains unclear.
Conclusions:
- PTEN gene abnormalities contribute to the pathogenesis of a subset of malignant lymphomas.
- The findings suggest PTEN is a relevant, though infrequently altered, gene in lymphoid malignancies.