Comprehensive analysis of prognostic factors in myelodysplastic syndromes with isolated deletion of chromosome 5q

Myelodysplastic syndromes with isolated deletion of chromosome 5q [MDS-del(5q)] constitute a distinct biological entity traditionally associated with favorable outcomes, although up to one quarter of patients progress to acute myeloid leukemia (AML). Existing prognostic models, developed in heterogeneous MDS populations, may not adequately capture risk within this subgroup. We assembled an international cohort of 682 patients with MDS-del(5q) to evaluate the performance of the IPSS-R and IPSS-M, identify prognostic variables, and develop a disease-specific prognostic tool, the IPSS-del(5q). Most patients were classified as lower-risk by IPSS-R (94.4%) and IPSS-M (85.5%), yet both systems showed limited discriminatory ability (C-indices ≈0.5). Independent adverse prognostic factors included age ≥70 years, male sex, anemia (hemoglobin ≤10 g/dL), thrombocytopenia (platelets ≤100×10⁹/L), the presence of one additional chromosomal abnormality, ≥2 gene mutations, SF3B1 mutations, and high-risk TP53 status. Six variables were included in the IPSS-del(5q), stratifying patients into standard-risk (74.3%) and high-risk (25.7%) groups with significantly different LFS (69.2 vs. 32.0 months; p<0.01). Moreover, this model reclassified 19.1% of lower-risk IPSS-R and 14.6% of lower-risk IPSS-M patients into the high-risk IPSS-del(5q) group. However, its discriminative power remained modest, with a C-index of 0.60. Overall, this study provides the most comprehensive prognostic evaluation of MDS-del(5q) to date, demonstrates the limited discriminatory capacity of existing MDS scores in this entity, and underscores the need to develop refined disease-specific prognostic approaches for this MDS subtype.

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Journal
Blood Advances
Published
2026-07-16
DOI
https://doi.org/10.1182/bloodadvances.2026020633
Primary Topic
Acute Myeloid Leukemia Research
Type
article
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article

Comprehensive analysis of prognostic factors in myelodysplastic syndromes with isolated deletion of chromosome 5q

María Julia Montoro, Aref Al‐Kali, Rami S. Komrokji, Pamela Acha et al.
Blood Advances
Acute Myeloid Leukemia Research
article

Comprehensive analysis of prognostic factors in myelodysplastic syndromes with isolated deletion of chromosome 5q

María Julia Montoro, Aref Al‐Kali, Rami S. Komrokji, Pamela Acha, Sangeetha Venugopal, Daniel H. Wiseman, David Valcárcel, Beate Betz, Alessia Campagna, Lea Naomi Eder, Anne Sophie Kubasch, T Haferlach, Manja Meggendorfer, Austin Gladston Kulasekararaj, Mikkael Aaron Sekeres, Carmelo Gurnari, María Díez‐Campelo, Maria Teresa Voso, Blanca Xicoy, Esperanza Such, Felicitas Schulz, Onyee Chan, Teresa Bernal, Nicolás Díaz Varela, Robert Briski, Françesc Solé, Luca Lanino, Laura Palomo, Matteo Giovanni Della Porta, Valeria Santini, Vı́ctor Navarro, Yasuo Kubota, C. Zindel, Andrés Jérez, Jaroslaw P. Maciejewski, Y C Wang, Tariq Kewan, Anna Aguilera, Francesc Bosch, Amer M. Zeidan, Ulrich Germing, Claudia Haferlach, Guillermo Garcia-Manero, Najla Al-Ali, Felix Lopez-Cadenas, Detlef Thomas Haase, Uwe Platzbecker, Pierre Fenaux
article en

Abstract

Myelodysplastic syndromes with isolated deletion of chromosome 5q [MDS-del(5q)] constitute a distinct biological entity traditionally associated with favorable outcomes, although up to one quarter of patients progress to acute myeloid leukemia (AML). Existing prognostic models, developed in heterogeneous MDS populations, may not adequately capture risk within this subgroup. We assembled an international cohort of 682 patients with MDS-del(5q) to evaluate the performance of the IPSS-R and IPSS-M, identify prognostic variables, and develop a disease-specific prognostic tool, the IPSS-del(5q). Most patients were classified as lower-risk by IPSS-R (94.4%) and IPSS-M (85.5%), yet both systems showed limited discriminatory ability (C-indices ≈0.5). Independent adverse prognostic factors included age ≥70 years, male sex, anemia (hemoglobin ≤10 g/dL), thrombocytopenia (platelets ≤100×10⁹/L), the presence of one additional chromosomal abnormality, ≥2 gene mutations, SF3B1 mutations, and high-risk TP53 status. Six variables were included in the IPSS-del(5q), stratifying patients into standard-risk (74.3%) and high-risk (25.7%) groups with significantly different LFS (69.2 vs. 32.0 months; p<0.01). Moreover, this model reclassified 19.1% of lower-risk IPSS-R and 14.6% of lower-risk IPSS-M patients into the high-risk IPSS-del(5q) group. However, its discriminative power remained modest, with a C-index of 0.60. Overall, this study provides the most comprehensive prognostic evaluation of MDS-del(5q) to date, demonstrates the limited discriminatory capacity of existing MDS scores in this entity, and underscores the need to develop refined disease-specific prognostic approaches for this MDS subtype.

Blood Advances
University of Rome Tor Vergata (IT), Hebron University (PS), Cleveland Clinic (US), Mayo Clinic (US), Humanitas University (IT), The University of Texas MD Anderson Cancer Center (US), University of Miami (US), Universidad de Salamanca (ES), University of Manchester (GB), Moffitt Cancer Center (US), Yale University (US), Düsseldorf University Hospital (DE), Josep Carreras Leukaemia Research Institute (ES), Munich Leukemia Laboratory (Germany) (DE), Complejo Hospitalario de Salamanca (ES), Institut Català d'Oncologia (ES), University of Tokyo Hospital (JP), Nephrologisches Zentrum Goettingen (DE), University Hospital Leipzig (DE), Vall d'Hebron Hospital Universitari (ES), Cancer Research UK Manchester Institute (GB), Hospital Universitario Central de Asturias (ES), Instituto de Investigación Biomédica de Salamanca (ES), Hôpital Saint-Louis (FR), Fundación Josep Carreras Contra la Leucemia (ES), King's College Hospital (GB), Sylvester Comprehensive Cancer Center (US), University Hospital Carl Gustav Carus (DE), IRCCS Humanitas Research Hospital (IT), Instituto de Investigación Sanitaria La Fe (ES), Vall d'Hebron Institute of Oncology (ES), Heinrich Heine University Düsseldorf (DE), University of Florence (IT), University of Göttingen (DE)
Reduced inequalities
Openalex Percentile: Top 8%
Acute Myeloid Leukemia Research
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