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BCL10 in malignant lymphomas--an evaluation using fluorescence in situ hybridization
R Achuthan1, S M Bell, I M Carr
1Molecular Medicine Unit, University of Leeds, St. James's University Hospital, Leeds LS9 7TF, UK.
The Journal of Pathology
|December 19, 2001
Summary
Rearrangements of the BCL10 gene are uncommon in lymphoma, primarily affecting mucosa-associated lymphoid tissue (MALT) lymphomas. This study found no evidence of BCL10 gene mutations, suggesting a limited role in general lymphomagenesis.
Area of Science:
- Oncology
- Genetics
- Hematology
Background:
- BCL10 is a tumor suppressor gene implicated in malignant lymphoma development.
- Translocations involving BCL10 are observed in some mucosa-associated lymphoid tissue (MALT) lymphomas.
- The precise role of BCL10 in lymphomagenesis requires further investigation.
Purpose of the Study:
- To determine the incidence of BCL10 gene rearrangements in various lymphomas using fluorescence in situ hybridization (FISH).
- To investigate BCL10 gene mutations in lymphoma cases via single-strand conformational polymorphism (SSCP) and sequencing.
- To assess the frequency of BCL10 gene alterations in the development of malignant lymphomas.
Main Methods:
- Fluorescence in situ hybridization (FISH) on 22 malignant lymphoma cases to detect BCL10 rearrangements.
- Single-strand conformational polymorphism (SSCP) analysis of tumor DNA from 57 malignant lymphoma cases.
- Direct sequencing and RT-PCR analysis of BCL10 in selected cases with identified polymorphisms or rearrangements.
Main Results:
- One case of MALT lymphoma showed a t(1;2)(p22;p12) translocation involving BCL10.
- Seven other cases had 1p region abnormalities, but none involved the BCL10 gene.
- No pathogenic mutations were identified in BCL10 at the DNA (0/60) or mRNA (0/12) levels.
Conclusions:
- BCL10 gene rearrangements are uncommon in lymphoma, predominantly occurring in MALT lymphomas.
- Aberrations in the 1p22 region do not invariably involve the BCL10 gene.
- The BCL10 gene does not appear to play a frequent or critical role in general lymphomagenesis due to lack of mutations.