Contributions
Abstract: PB1683
Type: Publication Only
Session title: Myeloma and other monoclonal gammopathies - Clinical
Background
Mediterranean FeVer (MEFV) gene, a member of a highly conserved gene family that regulates embryonic development, hematopoiesis, oncogenesis, and inflammation, encodes pyrin protein, an important regulator of apoptosis, inflammation and communication between cytokines. The relationship of MEFV gene mutations with malignancies is an intriguing issue. It is suggested that MEFV gene mutations may cause a decrease in apoptosis, increase in inflammation and nuclear factor-kappa B (NF-kB) activity by disrupting the structure of normal pyrin protein and its interaction with other proteins. The role of increased NF-kB activity in the pathogenesis of multiple myeloma (MM) is well defined. However, there is no information that MEFV mutations may play a role in the pathogenesis of MM through a decrease in apoptosis and an increase in NF-kB activity.
Aims
In our study, we aimed to investigate the frequency of MEFV gene mutations in MM and the effect of these mutations on the disease prognosis.
Methods
Sixty-five patients diagnosed with plasma cell neoplasia followed in our hematology department were included in the study. MEFV gene mutation analyzes were performed from the blood samples of all patients. The gene mutation frequency was compared with the results of 186 healthy individuals. The clinical characteristics and survival rates of patients with and without mutations were compared by evaluating the data obtained from the patient files.
Results
Fifty five patients diagnosed with multiple myeloma, and ten patients diagnosed with monoclonal gamopathy of undetermined significance, solitary plasmacytoma, smoldering myeloma and amyloidosis were included in our study. MEFV gene mutation was observed in 11 (16.92%) patients in all patient group and it was found that the frequency did not increase compared to the control group. Nine MEFV gene mutations were found in eight patients (14.54%) in the MM group and it was observed that the frequency did not increase compared to the control group. However, it was found that the frequency of E148Q mutations decreased significantly compared to the control group (1.88 % versus 10.71 %), but the difference remained within the statistical significance limit (p=0.0524). When the clinical data of patients with and without mutations in the MM patient group were compared, it was observed that there was no significant difference between the two groups in terms of International Staging System (ISS) stages, anemia and the frequency of renal involvement. In the survival analysis, there was no statistically significant difference between the 2 groups in terms of 3-year progression-free survival and overall survival rates.
Conclusion
In our study we found that there is no increase in the frequency of MEFV gene mutations in MM patients compared to the control group. However, the frequency of the E148Q mutation was significantly reduced in the patient group compared to the healthy control. We also observe that carrying the MEFV gene mutation does not have a significant effect on the clinical course and survival of the disease. However, due to the low number of patients with mutations, it seems necessary to conduct studies involving more patients for a more accurate evaluation. The fact that the frequency of E148Q mutations is significantly lower in MM patients compared to the healthy control group seems to be an area that needs to be investigated and confirmed by studies involving more patients, especially in order to understand the role of this gene mutation in the malignant transformation process.
Keyword(s): Multiple myeloma, Mutation analysis, Prognosis, Survival
Abstract: PB1683
Type: Publication Only
Session title: Myeloma and other monoclonal gammopathies - Clinical
Background
Mediterranean FeVer (MEFV) gene, a member of a highly conserved gene family that regulates embryonic development, hematopoiesis, oncogenesis, and inflammation, encodes pyrin protein, an important regulator of apoptosis, inflammation and communication between cytokines. The relationship of MEFV gene mutations with malignancies is an intriguing issue. It is suggested that MEFV gene mutations may cause a decrease in apoptosis, increase in inflammation and nuclear factor-kappa B (NF-kB) activity by disrupting the structure of normal pyrin protein and its interaction with other proteins. The role of increased NF-kB activity in the pathogenesis of multiple myeloma (MM) is well defined. However, there is no information that MEFV mutations may play a role in the pathogenesis of MM through a decrease in apoptosis and an increase in NF-kB activity.
Aims
In our study, we aimed to investigate the frequency of MEFV gene mutations in MM and the effect of these mutations on the disease prognosis.
Methods
Sixty-five patients diagnosed with plasma cell neoplasia followed in our hematology department were included in the study. MEFV gene mutation analyzes were performed from the blood samples of all patients. The gene mutation frequency was compared with the results of 186 healthy individuals. The clinical characteristics and survival rates of patients with and without mutations were compared by evaluating the data obtained from the patient files.
Results
Fifty five patients diagnosed with multiple myeloma, and ten patients diagnosed with monoclonal gamopathy of undetermined significance, solitary plasmacytoma, smoldering myeloma and amyloidosis were included in our study. MEFV gene mutation was observed in 11 (16.92%) patients in all patient group and it was found that the frequency did not increase compared to the control group. Nine MEFV gene mutations were found in eight patients (14.54%) in the MM group and it was observed that the frequency did not increase compared to the control group. However, it was found that the frequency of E148Q mutations decreased significantly compared to the control group (1.88 % versus 10.71 %), but the difference remained within the statistical significance limit (p=0.0524). When the clinical data of patients with and without mutations in the MM patient group were compared, it was observed that there was no significant difference between the two groups in terms of International Staging System (ISS) stages, anemia and the frequency of renal involvement. In the survival analysis, there was no statistically significant difference between the 2 groups in terms of 3-year progression-free survival and overall survival rates.
Conclusion
In our study we found that there is no increase in the frequency of MEFV gene mutations in MM patients compared to the control group. However, the frequency of the E148Q mutation was significantly reduced in the patient group compared to the healthy control. We also observe that carrying the MEFV gene mutation does not have a significant effect on the clinical course and survival of the disease. However, due to the low number of patients with mutations, it seems necessary to conduct studies involving more patients for a more accurate evaluation. The fact that the frequency of E148Q mutations is significantly lower in MM patients compared to the healthy control group seems to be an area that needs to be investigated and confirmed by studies involving more patients, especially in order to understand the role of this gene mutation in the malignant transformation process.
Keyword(s): Multiple myeloma, Mutation analysis, Prognosis, Survival