부산대학교 도서관

Introduction: The prognosis of TP53 biallelic-mutated AML/MDS is severely poor. Azacitidine, venetoclax combination therapy (Aza/Ven) was shown to be effective and tolerable for AML patients who cannot receive standard chemotherapy and the efficacy even for adverse risk AML is expected. Methods: We report 3 cases of TP53 biallelic-mutated AML/MDS, successfully bridged to allo-HSCT by Aza/Ven. Results: Case 1 A 60-year-old male was diagnosed with MDS-MLD with complex karyotypes. TP53 p.V216G mutation (VAF 0.859) was detected by NGS. Because the disease progressed to MDS-EB1, one cycle of Aza/Ven was administered for disease control. No severe side effects happened during Aza/Ven. After allo-HSCT, CR was achieved and maintained for over 6 months. Case 2 A 57-year-old male was diagnosed as MDS-EB1 with complex karyotypes including -17. TP53 p.V216G mutation (VAF 0.733) and DNMT3A p.C497Y mutation were detected by NGS. After two cycles of Aza/Ven, myeloblasts in BM was decreased (9.4%→2.8%) without severe side effects. Although he received allo-HSCT, the disease relapsed. Case 3 A 62-year-old male was diagnosed with MDS-EB2. He has several complications including interstitial pneumonia. Although he received two cycles of Aza single therapy, the disease progressed. BM analysis revealed the complex karyotypes, including -17. TP53 p.R241 mutation (VAF 0.88) was detected by NGS. Thus, his treatment was switched to Aza/Ven. After two cycles of Aza/Ven, the disease did not progress, and no severe side effects were seen. He has just received allo-HSCT. Conclusions: Aza/Ven could be an effective treatment option as a bridging therapy toward allo-HSCT even in TP53 biallelic-mutated AML/MDS cases.