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Mutational analysis of CASP10 gene in acute leukaemias and multiple myelomas
Min Sung Kim1, Ji Eun Oh, Chang Ki Min
1Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Aims:
Deregulation of apoptosis is one of the hallmarks of cancers. Inactivation of cancer cell apoptosis by somatic mutations has been reported in several cancers. Caspase-10 activation is important in the initiation phase of apoptosis. The aim of this study was to explore whether CASP10 gene that encodes caspase-10 is somatically mutated in acute adulthood leukaemias and multiple myelomas (MMs).
Methods:
We analysed the entire coding region and all splice sites of CASP10 gene for the detection of somatic mutations in 60 acute leukaemias (25 acute myelogenous leukaemias, 35 acute lymphoblastic leukaemias) and 22 multiple myelomas by a single-strand conformation polymorphism assay.
Results:
Overall, we found two CASP10 mutations in the cancers (2/82; 2.4%). One mutation [c.854T>C (pLeu285Pro)] was detected in a T-acute lymphoblastic leukaemia (T-ALL) (1/13 T-ALL; 7.7%). The other mutation [c.61C>T (p.Arg21Cys)] was found in an MM (1/22 MM; 4.5%). The mutations were identified in the coding regions of the death effector domain (p.Arg21Cys) and the p17 large protease subunit (pLeu285Pro). We observed both of the T-ALL and the MM with the CASP10 mutations well expressed the mutant CAS10 at mRNA level.
Conclusion:
Although our data indicate that somatic mutation of CASP10 is not common in T-ALL and MM, the data suggest a possibility that CASP10 mutation might contribute to the pathogenesis of factions of T-ALL and MM.
Insights
Somatic mutations in the CASP10 gene were investigated in acute leukaemias and multiple myelomas. Two CASP10 mutations were identified, suggesting a potential role in a subset of these cancers.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Deregulation of apoptosis is a key characteristic of cancer.
- Somatic mutations inactivating apoptosis are implicated in cancer development.
- Caspase-10 activation is crucial for initiating apoptosis.
Purpose of the Study:
- To investigate somatic mutations in the CASP10 gene.
- To determine the frequency of CASP10 mutations in acute leukaemias and multiple myelomas.
Main Methods:
- Analysis of the entire coding region and splice sites of the CASP10 gene.
- Detection of somatic mutations using single-strand conformation polymorphism (SSCP) assay.
- Study included 60 acute leukaemias and 22 multiple myelomas.
Main Results:
- Two CASP10 mutations were identified in 82 samples (2.4%).
- One mutation (p.Leu285Pro) was found in T-acute lymphoblastic leukaemia (7.7%).
- Another mutation (p.Arg21Cys) was detected in multiple myeloma (4.5%).
- Mutations occurred in the death effector domain and p17 large protease subunit.
- Mutant CASP10 mRNA expression was observed in affected cases.
Conclusions:
- Somatic mutation of CASP10 is infrequent in T-acute lymphoblastic leukaemia and multiple myeloma.
- CASP10 mutations may contribute to the pathogenesis of a subset of these hematologic malignancies.
