Malek Abbaspourkharyeki, Naveen Jayaram Anvekar, Nallur B. Ramachandra*
Background: Multiple Myeloma (MM) also is known as malignancy of plasma cells, is still incurable disease. In recent decades, advanced technologies such as next-generation sequencing methods, helped researchers to identify molecular players and driver mutations in MM. According to new and unprecedented findings, a series of drugs have been developed against MM for better treatment outcomes. The NOTCH signaling pathway is possible candidates for a novel therapeutic approach and emerging biomarkers and target pathway for drug designing in the case of MM.
Methods: We performed WES in four cases of MM and targeted point mutations in the NOTCH family and compared them with existing online data.
Result: It has been proved that the over activation of NOTCH2 is involved in the progression of MM. Also, it is clear that the extracellular domain of NOTCH2 protein is highly sensitive and ligand binding site is critical for activation of the NOTCH pathway.
Conclusion: We found a mutation in the glycosylation site of the extracellular domain of NOTCH2, and it seems it will be a possible candidate gene for further studies for target therapy and developing a new drug for MM.