Mutational screening to improve the transplantation decision-making process in MDS

EVIDENCE-BASED MINIREVIEW| December 8, 2023 Mutational screening to improve the transplantation decision-making process in MDS Evidence-Based Minireview Alessia Campagna, Alessia Campagna Comprehensive Cancer Center and Center for Accelerating Leukemia/Lymphoma Research, IRCCS Humanitas Research Hospital, Humanitas University and Humanitas AI Center, Milan, Italy Search for other works by this author on: This Site PubMed Google Scholar Matteo G. Della Porta Matteo G. Della Porta Comprehensive Cancer Center and Center for Accelerating Leukemia/Lymphoma Research, IRCCS Humanitas Research Hospital, Humanitas University and Humanitas AI Center, Milan, Italy Correspondence Matteo G. Della Porta, Comprehensive Cancer Center and Center for Accelerating Leukemia/Lymphoma Research, IRCCS Humanitas Research Hospital, Humanitas University and Humanitas AI Center, Via Manzoni 56, 20089 Rozzano, Milan, Italy; e-mail: matteo. dellaₚorta@hunimed. eu. Search for other works by this author on: This Site PubMed Google Scholar Hematology Am Soc Hematol Educ Program (2023) 2023 (1): 73–76. https: //doi. org/10. 1182/hematology. 2023000516 Share Icon Share Facebook Twitter LinkedIn Email Tools Icon Tools Request Permissions Cite Icon Cite Search Site Citation Alessia Campagna, Matteo G. Della Porta; Mutational screening to improve the transplantation decision-making process in MDS. Hematology Am Soc Hematol Educ Program 2023; 2023 (1): 73–76. doi: https: //doi. org/10. 1182/hematology. 2023000516 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search Dropdown Menu toolbar search search input Search input auto suggest filter your search All ContentAll JournalsHematology, ASH Education Program Search Learning ObjectivesDiscuss the clinical benefit of allogeneic hematopoietic stem cell transplantation (HSCT) in older patients with MDSDescribe the clinical relevance of genomic profiling in MDSProvide evidence for the utility of genomic information to define eligibility for and the optimal timing of transplantation Two patients aged 72 and 71 years, referred to as patient A and patient B, respectively, were admitted to our institution in March 2022. Both presented with blood cytopenia and were diagnosed with myelodysplastic syndrome (MDS) with multilineage dysplasia according to World Health Organization 2016 criteria. Bone marrow blasts were less than 5%, and karyotype was normal in both cases. Mutation screening revealed an isolated TP53 gene mutation in patient A and mutations in TET2 and SRSF2 genes in patient B. Accordingly, both patients were classified as intermediate Revised International Prognostic Scoring System (IPSS-R) risk. . . References 1. Greenberg PL, Tuechler H, Schanz J, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012;120 (12): 2454-2465. doi: 10. 1182/blood-2012-03-420489. Google ScholarCrossrefSearch ADS PubMed 2. Papaemmanuil E, Gerstung M, Malcovati L, et al; Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122 (22): 3616-3627, quiz 3699. doi: 10. 1182/blood-2013-08-518886. Google ScholarCrossrefSearch ADS PubMed 3. Bernard E, Nannya Y, Hasserjian RP, et al. Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes. Nat Med. 2020;26 (10): 1549-1556. doi: 10. 1038/s41591-020-1008-z. Google ScholarCrossrefSearch ADS PubMed 4. Bernard E, Tuechler H, Greenberg PL, et al. Molecular International Prognostic Scoring System for myelodysplastic syndromes. NEJM Evid. 2022;1 (7). doi: 10. 1056/EVIDoa2200008. Google Scholar 5. de Witte T, Bowen D, Robin M, et al. Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel. Blood. 2017;129 (13): 1753-1762. doi: 10. 1182/blood-2016-06-724500. Google ScholarCrossrefSearch ADS PubMed 6. Kröger N, Iacobelli S, Franke GN, et al. Dose-reduced versus standard conditioning followed by allogeneic stem-cell transplantation for patients with myelodysplastic syndrome: a prospective randomized phase III study of the EBMT (RICMAC trial). J Clin Oncol. 2017;35 (19): 2157-2164. doi: 10. 1200/JCO. 2016. 70. 7349. Google ScholarCrossrefSearch ADS PubMed 7. Kröger N, Sockel K, Wolschke C, et al. Comparison between 5-azacytidine treatment and allogeneic stem-cell transplantation in elderly patients with advanced MDS according to donor availability (VidazaAllo study). J Clin Oncol. 2021;39 (30): 3318-3327. doi: 10. 1200/JCO. 20. 02724. Google ScholarCrossrefSearch ADS PubMed 8. Nakamura R, Saber W, Martens MJ, et al. Biologic assignment trial of reduced-intensity hematopoietic cell transplantation based on donor availability in patients 50-75 years of age with advanced myelodysplastic syndrome. J Clin Oncol. 2021;39 (30): 3328-3339. doi: 10. 1200/JCO. 20. 03380. Google ScholarCrossrefSearch ADS PubMed 9. Robin M, Porcher R, Ciceri F, et al. Haploidentical transplant in patients with myelodysplastic syndrome. Blood Adv. 2017;1 (22): 1876-1883. doi: 10. 1182/bloodadvances. 2017007146. Google ScholarCrossrefSearch ADS PubMed 10. Della Porta MG, Jackson CH, Alessandrino EP, et al. Decision analysis of allogeneic hematopoietic stem cell transplantation for patients with myelodysplastic syndrome stratified according to the revised International Prognostic Scoring System. Leukemia. 2017;31 (11): 2449-2457. doi: 10. 1038/leu. 2017. 88. Google ScholarCrossrefSearch ADS PubMed 11. Della Porta MG, Gallì A, Bacigalupo A, et al. Clinical effects of driver somatic mutations on the outcomes of patients with myelodysplastic syndromes treated with allogeneic hematopoietic stem-cell transplantation. J Clin Oncol. 2016;34 (30): 3627-3637. doi: 10. 1200/JCO. 2016. 67. 3616. Google ScholarCrossrefSearch ADS PubMed 12. Sauta E, Robin M, Bersanelli M, et al. Real-world validation of Molecular International Prognostic Scoring System for myelodysplastic syndromes. J Clin Oncol. 2023;41 (15): 2827-2842. doi: 10. 1200/JCO. 22. 01784. Google ScholarCrossrefSearch ADS PubMed Copyright © 2023 by The American Society of Hematology2023 Copyright © 2023 by The American Society of Hematology2023 You do not currently have access to this content.