{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T07:05:53Z","timestamp":1792047953360,"version":"4.4.0"},"reference-count":128,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2025,11,29]],"date-time":"2025-11-29T00:00:00Z","timestamp":1764374400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hematology Reports"],"abstract":"<jats:p>The only cytogenetic alteration defining a subtype of a myelodysplastic syndrome is represented by the deletion of the long arm of chromosome 5 (del(5q)), now classified as MDS with isolated del(5q). This subtype is associated with a peculiar phenotype mainly dependent on the haploinsufficiency of several genes located on the deleted arm of chromosome 5. These patients show a good prognosis and respond to treatment with lenalidomide, but some cases progress to acute myeloid leukemia. Molecular studies have, in part, elucidated the heterogeneity of MDS with isolated del(5q), mainly related to the association with different co-mutations that may affect leukemic transformation and survival. In other MDS patients, del(5q) is combined with other chromosomal abnormalities, giving rise to a condition of complex karyotype, associated with frequent TP53 mutations and with a poor prognosis. Two different molecular pathways seem to be responsible for the generation of MDS with isolated del(5q) or of MDS with del(5q) associated with a complex karyotype.<\/jats:p>","DOI":"10.3390\/hematolrep17060067","type":"journal-article","created":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T17:35:17Z","timestamp":1764956117000},"page":"67","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and Biological Insights into Myelodysplastic Neoplasms Associated with Deletions of Chromosome 5q Region"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7900-8942","authenticated-orcid":false,"given":"Ugo","family":"Testa","sequence":"first","affiliation":[{"name":"Department of Oncology, Istituto Superiore di Sanit\u00e0, Viale Regina Elena 299, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3593-1230","authenticated-orcid":false,"given":"Germana","family":"Castelli","sequence":"additional","affiliation":[{"name":"Department of Oncology, Istituto Superiore di Sanit\u00e0, Viale Regina Elena 299, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elvira","family":"Pelosi","sequence":"additional","affiliation":[{"name":"Department of Oncology, Istituto Superiore di Sanit\u00e0, Viale Regina Elena 299, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,11,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1038\/251437a0","article-title":"Distinct hematological disorder with deletion of long arm of no. 5 chromosome","volume":"251","author":"Cassiman","year":"1974","journal-title":"Nature"},{"key":"ref_2","unstructured":"Jaffe, E.S., Harris, N.L., Stein, H., and Vardiman, J. (2001). World Health Organization classification of tumors. Pathology and Genetics of Tumors of Hematopoietic and Lymphoid Tissues, IARC. [3rd ed.]."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1182\/blood.2022015850","article-title":"International Consensus Classification of myeloid neoplasms and acute leukemias: Integrating morphologic, clinical and genomic data","volume":"140","author":"Arber","year":"2022","journal-title":"Blood"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1038\/s41375-022-01613-1","article-title":"The 5th edition of the world Health Organization Classification of hematolymphoid tumors: Myeloid and histiocytic\/dendritic neoplasms","volume":"36","author":"Khoury","year":"2022","journal-title":"Leukemia"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1182\/blood.2023023727","article-title":"Molecular taxonomy of myelodysplastic syndromes and its clinical implications","volume":"144","author":"Bernard","year":"2024","journal-title":"Blood"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.3324\/haematol.2017.166173","article-title":"Molecular analysis of myelodysplastic syndrome with isolated deletion of the long arm of chromosome 5 reveals a specific spectrum of molecular mutations with prognostic impact: A study on 123 patients and 27 genes","volume":"102","author":"Meggendorfer","year":"2017","journal-title":"Haematologica"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1722","DOI":"10.1182\/blood.2024023840","article-title":"Influence of TP53 gene mutations and their allelic status in myelodysplastic syndromes with isolated 5q deletion","volume":"144","author":"Montoro","year":"2024","journal-title":"Blood"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"100062","DOI":"10.1016\/j.bneo.2024.100062","article-title":"Clinical correlation and prognostic impact of cytogenetic clone size for myelodysplastic syndromes\/neoplasm","volume":"2","author":"Xie","year":"2025","journal-title":"Blood Neoplasia"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1038\/s41375-018-0351-2","article-title":"TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroups","volume":"33","author":"Haase","year":"2019","journal-title":"Leukemia"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/s41408-025-01305-w","article-title":"Two ways to complex karyotype in MDS-the role of del(5q) and TP53","volume":"15","author":"Huber","year":"2025","journal-title":"Blood Cancer J."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"3136","DOI":"10.1038\/s41467-023-38515-4","article-title":"Molecular patterns identify distinct subclasses of myeloid neoplasia","volume":"14","author":"Kewan","year":"2023","journal-title":"Nat. Commun."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2454","DOI":"10.1182\/blood-2012-03-420489","article-title":"Revised international prognostic scoring system for myelodysplastic syndromes","volume":"120","author":"Greenberg","year":"2012","journal-title":"Blood"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"EVIDoa22000008","DOI":"10.1056\/EVIDoa2200008","article-title":"Molecular international prognostic scoring system for myelodysplastic syndromes","volume":"1","author":"Bernard","year":"2022","journal-title":"NEJM Evid."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1182\/blood-2024-194405","article-title":"Newly developed prognostic score for myelodysplastic syndrome (MDS) with isolated 5q deletion (IPSS-del(5q))","volume":"144","author":"Montero","year":"2024","journal-title":"Blood"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"e862","DOI":"10.1016\/S2352-3026(24)00251-5","article-title":"Data-driven, harmonized classification system for myelodysplastic syndromes: A consensus paper from the International Consortium for Myelodysplastic Syndromes","volume":"11","author":"Komrokji","year":"2024","journal-title":"Lancer Hematol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1549","DOI":"10.1038\/s41591-020-1008-z","article-title":"Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes","volume":"26","author":"Bernard","year":"2020","journal-title":"Nat. Med."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"5540","DOI":"10.1182\/bloodadvances.2023010312","article-title":"Interplay of TP53 allelic state, blast count, and complex karyotype on survival of patients with AML and MDS","volume":"7","author":"Stengel","year":"2023","journal-title":"Blood Adv."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1136\/jcp-2024-209954","article-title":"Karyotypic clonal fraction predicts adverse outcome in TP53-mutated myeloid neoplasms: An international TP53 investigators network (iTiN) study","volume":"78","author":"Pandiri","year":"2025","journal-title":"J. Clin. Pathol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"3370","DOI":"10.1182\/bloodadvances.2024015238","article-title":"Evidence-based risk stratification of myeloid neoplasms harboring TP53 mutations","volume":"9","author":"Shah","year":"2025","journal-title":"Blood Adv."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1006\/geno.1994.1090","article-title":"Molecular Mapping of Uncharacteristically Small 5q Deletions in Two Patients with the 5q- Syndrome: Delineation of the Critical Region on 5q and Identification of a 5q- Breakpoint","volume":"19","author":"Boultwood","year":"1994","journal-title":"Genomics"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"4638","DOI":"10.1182\/blood.V99.12.4638","article-title":"Narrowing and Genomic Annotation of the Commonly Deleted Region of the 5q- Syndrome","volume":"99","author":"Boultwood","year":"2002","journal-title":"Blood"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/(SICI)1098-2264(199807)22:3<251::AID-GCC11>3.0.CO;2-R","article-title":"Molecular Cytogenetic Delineation of the Critical Deleted Region in the 5q- Syndrome","volume":"22","author":"Jaju","year":"1998","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1200\/JCO.2011.36.1824","article-title":"Topography, Clinical, and Genomic Correlates of 5q Myeloid Malignancies Revisited","volume":"30","author":"Jerez","year":"2012","journal-title":"J. Clin. Oncol."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"La Starza, R., Matteucci, C., Gorello, P., Brandimarte, L., Pierini, V., Crescenzi, B., Nofrini, V., Rosati, R., Gottardi, E., and Saglio, G. (2010). NPM1 deletion is associated with groos chromosomal rearrangements in leukemia. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0012855"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"792","DOI":"10.3324\/haematol.2011.060111","article-title":"Different boundaries characterize isolated and non-isolated 5q deletions in myelodysplastic syndromes and acute myeloid leukemias","volume":"97","author":"Nofrini","year":"2012","journal-title":"Haematologica"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1038\/s41379-019-0396-4","article-title":"Acute myeloid leukemia with isolated del(5q) is associated with IDH1\/IDH2 mutations and better prognosis when compared to acute myeloid leukemia with complex karyotype including del(5q)","volume":"33","author":"Rea","year":"2020","journal-title":"Mod. Patol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1002\/gcc.22377","article-title":"The 5q deletion size in myeloid malignancies is correlated with additional chromosomal aberrations and to TP53 mutations","volume":"55","author":"Stengel","year":"2016","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/j.leukres.2014.01.012","article-title":"Involvment of deleted chromosome 5 in complex chromosomal aberratyions in newly diagnosed myelodysplastic syndroems (MDS) is correlated with extremely adverse prognosis","volume":"38","author":"Zemanova","year":"2014","journal-title":"Leuk. Res."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1002\/gcc.22938","article-title":"Unbalanced translocation del(5;17) resulting in TP53 loss as recurrent aberration in myelodysplastic syndrome and acute myeloid leukemia with complex karyotype","volume":"60","author":"Warnstorf","year":"2021","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1002\/gcc.22151","article-title":"Association of the type of 5q loss with complex karyotype, clonal evolution, TP53 mutation status, and prognosis in acute myeloid leiukemia and myelodysplastic syndrome","volume":"53","author":"Volkert","year":"2014","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1111\/j.1365-2141.2007.06833.x","article-title":"Gene expression profiling of CD34+ cells in patients with 5q- syndrome","volume":"139","author":"Boultwood","year":"2007","journal-title":"Br. J. Haematol."},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Adema, V., Paloma, L., Walter, W., Mallo, M., Hutter, S., La Franboise, T., Arenillas, L., Meggendorfer, M., Radivoyevitch, T., and Xicoy, B. (2022). Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q. EBiomedicine, 80.","DOI":"10.1016\/j.ebiom.2022.104059"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/nature06494","article-title":"Identification of RPS14 as a 5q- syndrome gene by RNA interference screen","volume":"451","author":"Ebert","year":"2008","journal-title":"Nature"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"2567","DOI":"10.1182\/blood-2010-07-295238","article-title":"Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in huma erythroid progenitor cells","volume":"117","author":"Dutt","year":"2011","journal-title":"Blood"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"2721","DOI":"10.1182\/blood-2009-12-259705","article-title":"Induction of p53 and up-regulation of the p53 pathway in the human 5q- syndrome","volume":"115","author":"Pellagatti","year":"2010","journal-title":"Blood"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nm.2063","article-title":"A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome","volume":"16","author":"Barlow","year":"2010","journal-title":"Nat. Med."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1111\/j.1365-2141.2008.07178.x","article-title":"Haloinsufficiency of RPS14 in 5q\u2212 syndrome is associated with deregulation of ribosomal- and translation-related genes","volume":"142","author":"Pellagatti","year":"2008","journal-title":"Br. J. Haematol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"3641","DOI":"10.1182\/blood.V112.11.3641.3641","article-title":"Haploinsufficiency of RPS14 and deregulation of ribosomal- and translation-related genes in MDS patients with del(5q)","volume":"112","author":"Pellagatti","year":"2008","journal-title":"Blood"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.3324\/haematol.2009.008508","article-title":"Low RPS14 expression is common in myelodysplastic syndromes without 5q\u2212 aberration and defines a subgroup of patients with prolonged survival","volume":"94","author":"Cziberre","year":"2009","journal-title":"Haematologica"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1111\/ejh.12105","article-title":"Low Rps14 expression in MDS without 5q- aberration confers higher apoptosis rate of nucleated erythrocytes and predict prolonged survival and possible response to lenalidomide in lower risk non-5q- patients","volume":"90","author":"Wu","year":"2013","journal-title":"Eur. J. Haematol."},{"key":"ref_41","first-page":"5303","article-title":"5q+ MDS patients with low RPS14 expression are candidates to immune-modulating drugs","volume":"130","author":"Linares","year":"2017","journal-title":"Blood"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"2591","DOI":"10.1182\/blood-2021-151926","article-title":"Deficiency of RPs14 beyond the haploinsufficient loss in del(5q)","volume":"138","author":"Adema","year":"2021","journal-title":"Blood"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1038\/nm.4047","article-title":"Rps14 haploinsufficiency causes a block in erythroid differentiation mediated by S100A8 and S100A9","volume":"22","author":"Schneider","year":"2016","journal-title":"Nat. Med."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/nm.2054","article-title":"Identification of MiR-145 and MiR-146a as Mediators of the 5q\u2013 Syndrome Phenotype","volume":"16","author":"Starczynowski","year":"2010","journal-title":"Nat. Med."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1182\/blood-2010-12-324715","article-title":"Coordinate Loss of a MicroRNA and Protein-Coding Gene Cooperate in the Pathogenesis of 5q- Syndrome","volume":"118","author":"Kumar","year":"2011","journal-title":"Blood"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/j.ccr.2014.08.001","article-title":"Role of casein kinase 1A1 in the biology and targeted therapy of del(5q) MDS","volume":"26","author":"Schneider","year":"2014","journal-title":"Cancer Cell"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"e212","DOI":"10.1016\/S2352-3026(15)00050-2","article-title":"CSNK1A1 mutations and isolated del(5q) abnormality in myelodysplastic syndrome: A retrospective mutational analysis","volume":"2","author":"Smith","year":"2015","journal-title":"Lancet Hematol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1942","DOI":"10.1038\/leu.2015.49","article-title":"Frequency and prognostic impact of casein kinase 1A1 mutations in MDS patients with deletion of chromosome 5q","volume":"29","author":"Heuser","year":"2015","journal-title":"Leukemia"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1780","DOI":"10.1182\/bloodadvances.2021006061","article-title":"Genetic barcoding systematically compares genes in del(5q) MDS and reveals a central role for CSNK1A1 in clonal expansion","volume":"6","author":"Stalmann","year":"2022","journal-title":"Blood Adv."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1182\/bloodadvances.2022008926","article-title":"Collaborative effect of CSNK1A1 haploinsufficiency and mutant p53 in Myc induction can promote leukemic transformation","volume":"8","author":"Fuchs","year":"2024","journal-title":"Blood Adv."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1964","DOI":"10.1182\/blood.2025028460","article-title":"Casein kinase 1\u03b1 essentially regulates thrombopoiesis by driving megakaryocyte maturation and cytoskeleton organization","volume":"146","author":"Kollotzek","year":"2025","journal-title":"Blood"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1038\/s41388-019-0979-z","article-title":"Tumor-derived CK1\u03b1 mutations enhance MDMX inhibition of p53","volume":"39","author":"Liu","year":"2020","journal-title":"Oncogene"},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Esfahanian, N., Knoblsch, C.D., Bowman, C.A., and Rezvani, K. (2023). Mortalin: Protein partners, biological impacts, pathological role, and therapeutic opportunities. Front. Cell Dev. Biol., 11.","DOI":"10.3389\/fcell.2023.1028519"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1530","DOI":"10.1182\/blood-2010-06-293167","article-title":"Kockdown of Hspa9, a del(5q31.2), results in a decrease in hematopoietic progenitors in mice","volume":"117","author":"Chen","year":"2010","journal-title":"Blood"},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"Liu, T., Krysiak, K., Shirai, C.L., Kim, S., Shao, J., Ndonwi, M., and Walter, M.J. (2017). Knockdown of HSPA9 induces TP53-dependent apoptosis in human hematopoietic progenitor cells. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0170470"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/j.cstres.2024.03.006","article-title":"SSPA9\/mortalin inhibition disrupts erythroid maturation through a TP53-dependent mechanism in human CD34+ hematopoietic progenitor cells","volume":"29","author":"Butler","year":"2024","journal-title":"Cell Stress Chaperones"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1038\/sj.leu.2404852","article-title":"Common deleted genes in the 5q- syndrome: Thrombocytopenia and reduced erythroid colony formation in SPARC null mice","volume":"21","author":"Lehmann","year":"2007","journal-title":"Leukemia"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1016\/j.exphem.2012.06.002","article-title":"SPARC promotes the development of erythroid progenitors","volume":"40","author":"Luo","year":"2012","journal-title":"Exp. Hematol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/nm1512","article-title":"Chromosome 5 deletion and epigenetic suppression of the gene encoding \u03b1-catenin (CTNNA1) in myeloid cell transformation","volume":"13","author":"Liu","year":"2007","journal-title":"Nat. Med."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1182\/blood.V106.11.663.663","article-title":"Egr1, a candidate gene within the commonly deleted segment of chromosome 5, plays a role in murine erythropoiesis and leukemogenesis","volume":"106","author":"Joslin","year":"2005","journal-title":"Blood"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1182\/blood-2007-01-068809","article-title":"Haploinsufficiency of EGR1, a candidate gene in the del(5q), leads to the development of myeloid disorders","volume":"110","author":"Joslin","year":"2007","journal-title":"Blood"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.exphem.2022.08.003","article-title":"EGR1 haploinsufficiency confers a fitness advantage to hematopoietic stem cells following chemotherapy","volume":"115","author":"Stoddart","year":"2022","journal-title":"Exp. Hematol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1182\/blood.V110.11.118.118","article-title":"Gene dosage of the cell cycle regulatory phosphatases Cdsc25C and PP2A determines sensitivity to lenalidomide in del(5q) MDS","volume":"110","author":"Wei","year":"2007","journal-title":"Blood"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"12974","DOI":"10.1073\/pnas.0811267106","article-title":"A critical role for phosphatase haploinsufficiency in the selective suppression of deletion 5q MDS by leniladomide","volume":"106","author":"Wei","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1038\/s41375-023-02107-4","article-title":"DELE1 haploinsufficiency causes resistance to mitochondrial stress-induced apoptosis in monosomy 5\/del(5q) AML","volume":"38","author":"Spinell","year":"2024","journal-title":"Leukemia"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"7565","DOI":"10.1158\/0008-5472.CAN-07-1467","article-title":"Myeloproliferative defects following targeting of the Drfg1 gene encoding the mammalian diaphanous-related formin mDia1","volume":"67","author":"Peng","year":"2007","journal-title":"Cancer Res."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1182\/blood-2014-01-552463","article-title":"Aberrant overexpression of CD14 on granulocytes sensitizes the innate immune response in mDia1 heterozygous del(5q) MDS","volume":"124","author":"Keerthivasan","year":"2014","journal-title":"Blood"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"3967","DOI":"10.1182\/blood-2013-12-544924","article-title":"The forming DIAPH1 (mDia1) regulates megakaryocyte proplatelet formation by remodeling the actin and microtubule cytoskeletons","volume":"124","author":"Pan","year":"2014","journal-title":"Blood"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"217125","DOI":"10.1016\/j.canlet.2024.217125","article-title":"DIAPH1 mutations predict favorable outcome for de novo MDS","volume":"598","author":"Tang","year":"2024","journal-title":"Cancer Lett."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"e2318794121","DOI":"10.1073\/pnas.2318794121","article-title":"TIFAB regulates the TIFA-TRAF6 signaling pathway involved in innate immunity by forming a heterodimer complex with TIFA","volume":"121","author":"Nakamura","year":"2024","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1182\/blood.V122.21.102.102","article-title":"Deletion of TIFAB, a novel candidate gene on chromosome 5q, results in hematopoietic defects by changing the dynamic range of innate immune pathway activation","volume":"122","author":"Varney","year":"2013","journal-title":"Blood"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1084\/jem.20141898","article-title":"Loss of Tifab, a del(5q) MDS gene, alters hematopoiesis through derepression of Toll-like receptor-TRAF6 signaling","volume":"212","author":"Varney","year":"2015","journal-title":"J. Exp. Med."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"2776","DOI":"10.1016\/j.celrep.2020.01.093","article-title":"TIFAB regulates USP15-mediated p53 signaling during stressed and malignant hematopoiesis","volume":"30","author":"Niederkon","year":"2020","journal-title":"Cell Rep."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1038\/leu.2011.270","article-title":"Effect of nucleophosmin 1 haploinsufficiency on hematopoietic stem cells","volume":"26","author":"Raval","year":"2012","journal-title":"Leukemia"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"e54262","DOI":"10.15252\/embr.202154262","article-title":"NPM1 ablation induces HSC aging and inflammation to develop myelodysplastic syndrome exacerbated by p53 loss","volume":"23","author":"Morganti","year":"2022","journal-title":"EMBO Rep."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1759","DOI":"10.1038\/s41375-018-0350-3","article-title":"Rps14, Csnk1A1 and miR145\/miR146a deficiency cooperate in the clinical phenotype and activation of the innate immune system in the 5q\u2212 syndrome","volume":"33","author":"Ribezzo","year":"2019","journal-title":"Leukemia"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/leu.2016.276","article-title":"Epistasis between TIFAB and miRT-146a: Neighboring genes in del(5q) myelodysplastic syndrome","volume":"31","author":"Varney","year":"2017","journal-title":"Leukemia"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"2715","DOI":"10.3324\/haematol.2022.282349","article-title":"Inactivation of p53 provides a competitive advantage to del(5q) myelodysplastic syndrome hematopoietic stem cells","volume":"108","author":"Muto","year":"2023","journal-title":"Haematologica"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1038\/s41375-023-01864-6","article-title":"Therapy-related MDAS dissected based in primary disease and treatment-a nation-wide perspective","volume":"37","author":"Berggren","year":"2023","journal-title":"Leukemia"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1038\/nature13968","article-title":"Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukemia","volume":"518","author":"Wong","year":"2015","journal-title":"Nature"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1056\/NEJMoa1611604","article-title":"Prognostic mutations in myelodysplastic syndrome after stem-cell transplantation","volume":"376","author":"Lindsley","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1182\/blood-2002-11-3343","article-title":"Clinical-cytogenetic associations in 306 patients with therapy-related myelodysplasia and myeloid leukemia: The University of Chicago series","volume":"102","author":"Smith","year":"2003","journal-title":"Blood"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1038\/leu.2017.33","article-title":"Comparison of clinical outcomes and prognostic utility of risk stratification tools in patients with therapy-related vs de novo myelodysplastic syndromes: A report on behalf of the MDS clinical research consortium","volume":"31","author":"Zeidan","year":"2017","journal-title":"Leukemia"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1182\/blood.2022018236","article-title":"TP53 mutation in therapy-related myeloid neoplasms defines a distinct molecular subtype","volume":"141","author":"Hiwase","year":"2023","journal-title":"Blood"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/s41408-023-00821-x","article-title":"TP 53 mutation variant allele frequency of \u226510% is associated with poor prognosis in therapy-related myeloid neoplasms","volume":"13","author":"Shah","year":"2023","journal-title":"Blood Cancer J."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1038\/s41408-025-01276-y","article-title":"Molecular characteristics and clinical implications of TP53 mutations in therapy-related myelodysplastic syndromes","volume":"15","author":"Bao","year":"2025","journal-title":"Blood Cancer J."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.cancergencyto.2007.01.013","article-title":"Groupe francophone de cytog\u00e9n\u00e9tique h\u00e9matologique. Fluorescence in situ hybridization analysis of 110 hematopoietic disorders with chromosome 5 abnormalities: Do de novo and therapy-related myelodysplastic syndrome-acute myeloid leukemia actually differ?","volume":"176","author":"Lessard","year":"2007","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"6940","DOI":"10.1182\/blood-2022-163518","article-title":"Therapy-related myelodysplastic syndromes with isolated del(5q): A comparative analysis of phenotype and long-term survival","volume":"140","author":"Fleti","year":"2022","journal-title":"Blood"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"1762","DOI":"10.3324\/haematol.2009.011528","article-title":"Clonal heterogeneity in the 5q\u2212 syndrome: p53 expressing progenitors prevail during lenalidomide treatment and expand at disease progression","volume":"94","author":"Jadersten","year":"2009","journal-title":"Haematologica"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"498","DOI":"10.3324\/haematol.2016.152025","article-title":"Progression in patients with low- and intermediate-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations","volume":"102","author":"Schagelberger","year":"2017","journal-title":"Haematologica"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.1182\/blood-2015-11-679167","article-title":"Mutational hierarchies in myelodysplastic syndromes dynamically adapt and evolve upon therapy response and failure","volume":"128","author":"Mossner","year":"2016","journal-title":"Blood"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"1956","DOI":"10.1038\/leu.2016.111","article-title":"Prevalence, clonal dynamics and clinical impact of TP53 mutations in patients with myelodysplastic syndrome with isolated deletion (5q) treated with lenalidomide: Results from a prospective multicenter study of the German MDS study group (GMDS)","volume":"30","author":"Mossner","year":"2016","journal-title":"Leukemia"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"e143","DOI":"10.3324\/haematol.2017.181404","article-title":"Emergence and evolution of TP53 mutations are key features of disease progression in myelodysplastic patients with lower-risk del(5q) treated with lenalidomide","volume":"103","author":"Lode","year":"2018","journal-title":"Haematologica"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1182\/blood.2021014956","article-title":"Lenalidomide promotes the development of TP53-mutated therapy-related myeloid neoplasms","volume":"140","author":"Sperling","year":"2022","journal-title":"Blood"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/s41408-024-01027-5","article-title":"Treatment-emergent mutations in myelodysplastic syndrome with del (5q)-lenalidomide related or disease-intrinsic clonal evolution","volume":"14","author":"Abdallah","year":"2024","journal-title":"Blood Cancer J."},{"key":"ref_96","doi-asserted-by":"crossref","unstructured":"Feurstein, S., Thomay, K., Hofmann, W., Buesche, G., Kreipe, H., Thol, F., Heuser, M., Ganser, A., Schlegelberger, B., and Gihring, G. (2018). Routes of clonal evolution into complex karyotypes in myelodysplastic syndrome patients with 5q deletion. Int. Mol. Sci., 19.","DOI":"10.3390\/ijms19103269"},{"key":"ref_97","first-page":"330","article-title":"Treatment of lower-risk myelodysplastic syndromes","volume":"110","author":"Merz","year":"2025","journal-title":"Hamatologica"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"e473654","DOI":"10.1200\/EDBK-25-473654","article-title":"New approvals in low- and intermediate-risk myelodysplastic syndromes","volume":"45","author":"McMahon","year":"2025","journal-title":"Am. Soc. Clin. Oncol. Educ. Book."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"1883","DOI":"10.1182\/blood.2025028619","article-title":"A precision medicine approach to the myelodysplastic syndrome with isolated deletion 5q, fifty years after its discovery","volume":"146","author":"Roncador","year":"2025","journal-title":"Blood"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"2894","DOI":"10.1038\/s41375-022-01728-5","article-title":"SF3B1 mutated MDS: Blast count, genetic co-abnormalities and their impact on classification and prognosis","volume":"36","author":"Huber","year":"2022","journal-title":"Leukemia"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1182\/blood-2020-141960","article-title":"SF3B1 mutations and not TP53 are associated with outcomes in patients with del(5q) myelodysplastic syndromes (MDS)","volume":"136","author":"Chan","year":"2020","journal-title":"Blood"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1111\/bjh.17414","article-title":"Distinct bone marrow immunophenotypic features define the splicing factor 3B subunit 1 (SF3B1)-mutant myelodysplastic syndromes subtype","volume":"193","author":"Duetz","year":"2021","journal-title":"Br. J. Haematol."},{"key":"ref_103","first-page":"2676","article-title":"Diagnostic challenges and proposed classification of myeloid neoplasms with overlapping features of thrombocytosis, ring sideroblasts and concurrent del(5q) and SF3B1 mutations","volume":"109","author":"Sun","year":"2024","journal-title":"Haematologica"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"1845","DOI":"10.1182\/blood-2024-207474","article-title":"Myelodysplastic syndromes with concomitant SF3B1 mutation and deletion of the long arm of chromosome 5 (SF3B1del5q): Outcomes and response to treatment","volume":"144","author":"Komrokji","year":"2024","journal-title":"Blood"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1038\/s41556-020-0497-9","article-title":"Loss of lenalidomide-induced megakaryocytic differentiation leads to therapy resistance in del(5q) myelodysplastic syndrome","volume":"22","author":"Deng","year":"2020","journal-title":"Nat. Cell Biol."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"109809","DOI":"10.1016\/j.isci.2024.109809","article-title":"Dysregulated innate immune signaling cooperates with RUNX1 mutations to transform an MDS-like disease to AML","volume":"27","author":"Barreyro","year":"2024","journal-title":"iScience"},{"key":"ref_107","first-page":"3676","article-title":"Long-term transfusion independence with Luspatercept versus epoietin alfa in erythropoiesis-stimulating agent-na\u00efve, lower-risk myelodysplastic syndromes in the COMMANDS trial","volume":"42","author":"Santini","year":"2025","journal-title":"Adv. Ther."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"e646","DOI":"10.1016\/S2352-3026(24)00203-5","article-title":"Luspatercept versus epoietin alfa in erythropoiesis-stimulating agent-na\u00efve, transfusion-dependent, lower-risk myelodysplastic syndromes (COMMANDS): Primary analysis of a phase 3, open-label, randomized, controlled trial","volume":"11","author":"Santini","year":"2024","journal-title":"Lancet Hematol."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/S0140-6736(23)00874-7","article-title":"Efficacy and safety of luspatercept versus epoietin alfa in erythropoiesis-stimulating agent-na\u00efve, transfusion-dependent, lower-risk myelodysplastic syndromes (COMMANDS): Interim analysis of a phase 3, open-label, randomized controlled trial","volume":"402","author":"Platzbacker","year":"2023","journal-title":"Lancet"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1056\/NEJMoa1908892","article-title":"Luspatercept in patients with lower-risk myelodysplastic syndromes","volume":"382","author":"Fenaux","year":"2020","journal-title":"N. Engl. J. Med."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"6741","DOI":"10.1182\/blood-2024-205325","article-title":"Luspatercept for the treatment of transfusion-dependent anemia in patients with myelodysplastic neoplasms with del5q, refractory\/resistant\/intolerant to prior treatments (QOL_ONE Phoenix)","volume":"144","author":"Oliva","year":"2024","journal-title":"Blood"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1111\/bjh.19708","article-title":"A myelodysplastic neoplasm with del(5q) treated with luspatercept uncovers unexplored mechanisms of action for the drug","volume":"205","author":"Patsialos","year":"2024","journal-title":"Br. J. Haematol."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S1470-2045(09)70003-8","article-title":"Efficacy of azacitidine compared with that of conventional care regimens in the treatments of myelodysplastic syndromes: A randomized, open-label, phase III study","volume":"10","author":"Fenaux","year":"2009","journal-title":"Lancet Oncol."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1200\/JCO.2015.66.2510","article-title":"Randomized phase II study of azacitidine alone or in combination with lenalidomide or verinostat in higher-risk myelodysplastic syndromes and chronic myelomonocytic leukemia: North American Intergroup Study sWOG S1117","volume":"35","author":"Sekeres","year":"2017","journal-title":"J. Cin. Oncol."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"1875","DOI":"10.1038\/leu.2015.115","article-title":"Effectiveness of azacitidine in unselected high-risk myelodysplastic syndromes: Results from the Spanish registry","volume":"29","author":"Bernal","year":"2015","journal-title":"Leukemia"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1182\/blood.2024025464","article-title":"Efficacy and safety of venetoclax plus azacitidine for patients with treatment-na\u00efve high-risk myelodysplastic syndromes","volume":"145","author":"Garcia","year":"2025","journal-title":"Blood"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"2256","DOI":"10.1038\/s41375-025-02711-6","article-title":"Erythroid-predominant myelodysplastic neoplasms exhibit a distinct genomic landscape with poor outcomes after venetoclax-based therapy","volume":"39","author":"Bazinet","year":"2025","journal-title":"Leukemia"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1038\/s41375-023-01855-7","article-title":"MDS subclassification-do we still have to count blasts?","volume":"37","author":"Huber","year":"2023","journal-title":"Leukemia"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"107736","DOI":"10.1016\/j.leukres.2025.107736","article-title":"Molecular taxonomy of MDS\/CMML patients influences responses to hypomethylating agents and clinical outcomes","volume":"156","author":"Molina","year":"2025","journal-title":"Leuk. Res."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1007\/s12308-025-00658-2","article-title":"Validation of clinicopathologic features of a genetic myelodysplastic syndrome classification in an independent cohort","volume":"18","author":"Patwardhan","year":"2025","journal-title":"J. Hematop."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/s41375-024-02484-4","article-title":"Relevance of blast counts for genetic subclassification in MDS","volume":"39","author":"Huber","year":"2025","journal-title":"Leukemia"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"2064","DOI":"10.1038\/s41375-024-02348-x","article-title":"Validation of independent prognostic significance of blast count in a large cohort of MDS patients","volume":"38","author":"Baloda","year":"2024","journal-title":"Leukemia"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"2069","DOI":"10.1200\/JCO-24-02394","article-title":"Characterization and clinical implications of p53 dysfunction in patients with myelodysplastic syndromes","volume":"43","author":"Zampini","year":"2025","journal-title":"J. Clin. Oncol."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1038\/s41375-022-01537-w","article-title":"Randomized phase II study of azacitidine \u00b1 lenalidomide in higher-risk myelodysplastic syndromes and acute myeloid leukemia with a karyotype including Del(5q)","volume":"36","author":"Rasmussen","year":"2022","journal-title":"Leukemia"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"e70029","DOI":"10.1002\/gcc.70029","article-title":"Influence of cytogenetics on the outcome of patients with high-risk myelodysplastic syndrome including deletion 5q treated with azacitidine with or without lenalidomide","volume":"64","author":"Rasmussen","year":"2025","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"abs25-2209","DOI":"10.1182\/blood-2025-2068","article-title":"Refining the prognostic hierarchy of TP53 multihit alterations and isolated deletion of chromosome 5q in myelodysplastic syndromes","volume":"146","author":"Montoro","year":"2025","journal-title":"Blood"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"abs25-12208","DOI":"10.1182\/blood-2025-5276","article-title":"Biallelic TP53 aberrations and double TP53 mutations are prevalent in AML\/MDS patients with del(5q) complex karyotype\u2014An NCI myelomatch and SWOG report","volume":"146","author":"Fang","year":"2025","journal-title":"Blood"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1182\/blood-2024-206210","article-title":"Loss of 5q drives evolution to aneuploidy in an IPSC model of complex karyotype AML","volume":"144","author":"Creamer","year":"2024","journal-title":"Blood"}],"container-title":["Hematology Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2038-8330\/17\/6\/67\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T18:22:48Z","timestamp":1764958968000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2038-8330\/17\/6\/67"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,29]]},"references-count":128,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["hematolrep17060067"],"URL":"https:\/\/doi.org\/10.3390\/hematolrep17060067","relation":{},"ISSN":["2038-8330"],"issn-type":[{"value":"2038-8330","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,29]]}}}