Review
Oncology
Pamela Acha, Mar Mallo, Francesc Sole
Summary: Myelodysplastic syndromes with isolated del(5q) are a subtype of MDS defined by cytogenetic alteration. This review summarizes the current knowledge of the molecular background of MDS with isolated del(5q), focusing on the clinical and prognostic relevance of cytogenetic alterations and somatic mutations.
Review
Oncology
Ao Zhang, Shuxing Wang, Quanlei Ren, Yizhu Wang, Zhiping Jiang
Summary: This meta-analysis reveals that ASXL1 mutations have an adverse prognostic impact on patients with MDS and AML, particularly in those aged >= 60 years and those with CN-AML.
ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY
(2023)
Review
Hematology
Giuseppe Leone, Emiliano Fabiani, Maria Teresa Voso
Summary: The aim of this review is to compare and summarize the analogies and differences between primitive MDS (p-MDS) and therapy-related MDS (t-MDS) by accurately reviewing English peer-reviewed literature. The diagnosis and treatment of t-MDS are similar to p-MDS, with the only difference being the presence of a previous non-myeloid neoplasm. There may be differences in cytogenetics, mutations, and epigenetics, but there are currently no specific markers for t-MDS.
MEDITERRANEAN JOURNAL OF HEMATOLOGY AND INFECTIOUS DISEASES
(2022)
Article
Oncology
Elisabetta Sauta, Marie Robin, Matteo Bersanelli, Erica Travaglino, Manja Meggendorfer, Lin-Pierre Zhao, Juan Carlos Caballero Berrocal, Claudia Sala, Giulia Maggioni, Massimo Bernardi, Carmen Di Grazia, Luca Vago, Giulia Rivoli, Lorenza Borin, Saverio D'Amico, Cristina Astrid Tentori, Marta Ubezio, Alessia Campagna, Antonio Russo, Daniele Mannina, Luca Lanino, Patrizia Chiusolo, Luisa Giaccone, Maria Teresa Voso, Marta Riva, Esther Natalie Oliva, Matteo Zampini, Elena Riva, Olivier Nibourel, Marilena Bicchieri, Niccolo' Bolli, Alessandro Rambaldi, Francesco Passamonti, Victor Savevski, Armando Santoro, Ulrich Germing, Shahram Kordasti, Valeria Santini, Maria Diez-Campelo, Guillermo Sanz, Francesc Sole, Wolfgang Kern, Uwe Platzbecker, Lionel Ades, Pierre Fenaux, Torsten Haferlach, Gastone Castellani, Matteo Giovanni Della Porta
Summary: The study validates the effectiveness of the Molecular International Prognostic Scoring System (IPSS-M) in predicting clinical outcomes of patients with myelodysplastic syndromes (MDS). IPSS-M improves the prognostic discrimination of the Revised International Prognostic Scoring System (IPSS-R) and enhances the accuracy of selecting candidates for hematopoietic stem cell transplantation (HSCT).
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Oncology
Hong Wang, Jiaqian Qi, Xueqian Li, Tiantian Chu, Huiying Qiu, Chengcheng Fu, Xiaowen Tang, Changgeng Ruan, Depei Wu, Yue Han
Summary: This study conducted a real-world study on 303 patients with myelodysplastic syndrome (MDS) who underwent allogeneic hematopoietic stem cell transplantation (HSCT). The results showed that prolonged isolated thrombocytopenia (PT) was associated with worse overall survival (OS) in MDS patients. Risk factors for PT, such as grade II-IV acute graft-versus-host disease (aGVHD), extensive chronic graft-versus-host disease (GVHD), hemorrhagic cystitis, and CMV activation, were identified. These findings have important implications for patient management and treatment strategies.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Cong Shi, Shengping Gong, Tingting Niu, Tongyu Li, An Wu, Xiaojiao Zheng, Shujun Yang, Guifang Ouyang, Qitian Mu
Summary: Inflammation plays a critical role in carcinogenesis tumor growth, and the platelet-to-lymphocyte ratio (PLR), neutrophil-to-lymphocyte ratio (NLR), and plasma C-reactive protein (CRP) are considered indicators of systemic inflammatory response and clinical prognosis. The prognostic value of these inflammatory indices in myelodysplastic syndrome (MDS) patients is still unclear. This study found that elevated PLR and CRP levels are associated with poor prognosis in MDS patients, independently of the Revised International Prognostic Scoring System (IPSS-R).
FRONTIERS IN ONCOLOGY
(2022)
Article
Hematology
Ivan Martin, Eva Villamon, Rosario Abellan, Maria Jose Calasanz, Aroa Irigoyen, Guillermo Sanz, Esperanza Such, Elvira Mora, Miriam Gutierrez, Rosa Collado, Rocio Garcia-Serra, Miriam Vara, Ma Laura Blanco, Itziar Oiartzabal, Sara alvarez, Teresa Bernal, Isabel Granada, Blanca Xicoy, Andres Jerez, Marisa Calabuig, Rosana Diez, Angela Gil, Maria Diez-Campelo, Carlos Solano, Mar Tormo
Summary: Chromosomal alterations and genetic mutations of the ASXL1 gene are common in MDS patients with del(20q), and are associated with shorter overall survival and a higher risk of AML progression. ASXL1 alterations also lead to a poorer response to azacitidine (AZA) treatment.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Article
Nutrition & Dietetics
Qiuni Chen, Kankan Chen, Sumei Wang, Lijuan Zhang, Yuye Shi, Shandong Tao, Zhengmei He, Chunling Wang, Liang Yu
Summary: The CONUT score is closely related to the prognosis of MDS patients and has important clinical significance in predicting overall survival (OS).
FRONTIERS IN NUTRITION
(2022)
Article
Oncology
Cong Shi, Shengping Gong, An Wu, Shujun Yang, Duobing Zou, Yi Zhang, Ningning Wu, Chao Ma, Songqiu Shi, Ying Chen, Ying Wu, Xiaojiao Zheng, Zhenya Huang, Jianghua Ding, Guifang Ouyang, Qitian Mu
Summary: The study found that low ApoA1 levels in MDS patients are associated with shorter overall survival and a higher frequency of TP53 mutation. Age, gender, hemoglobin levels, bone marrow blast percentage, IPSS-R scores, and karyotype are significantly associated with overall survival, while low ApoA1 levels do not affect leukemia-free survival.
Article
Oncology
Matteo Bersanelli, Erica Travaglino, Manja Meggendorfer, Tommaso Matteuzzi, Claudia Sala, Ettore Mosca, Chiara Chiereghin, Noemi Di Nanni, Matteo Gnocchi, Matteo Zampini, Marianna Rossi, Giulia Maggioni, Alberto Termanini, Emanuele Angelucci, Massimo Bernardi, Lorenza Borin, Benedetto Bruno, Francesca Bonifazi, Valeria Santini, Andrea Bacigalupo, Maria Teresa Voso, Esther Oliva, Marta Riva, Marta Ubezio, Lucio Morabito, Alessia Campagna, Claudia Saitta, Victor Savevski, Enrico Giampieri, Daniel Remondini, Francesco Passamonti, Fabio Ciceri, Niccolo Bolli, Alessandro Rambaldi, Wolfgang Kern, Shahram Kordasti, Francesc Sole, Laura Palomo, Guillermo Sanz, Armando Santoro, Uwe Platzbecker, Pierre Fenaux, Luciano Milanesi, Torsten Haferlach, Gastone Castellani, Matteo G. Della Porta
Summary: The study identified eight distinct subgroups of MDS based on specific genomic features, each with different prognostic outcomes. By integrating clinical and genomic variables, a novel prognostic model was developed to provide personalized survival predictions for MDS patients. This model significantly improved the accuracy of current prognostic tools and has the potential to revolutionize disease classification and prognosis in the future.
JOURNAL OF CLINICAL ONCOLOGY
(2021)
Article
Multidisciplinary Sciences
Nanfang Huang, Yang Song, Wenhui Shi, Juan Guo, Lingyun Wu, Zheng Zhang, Qi He, Xiao Li, Feng Xu
Summary: DHX9 overexpression in myelodysplastic syndromes (MDS) is associated with poor prognosis and high risk of acute myeloid leukemia (AML) transformation. DHX9 is essential for malignant proliferation of leukemia cells. Suppression of DHX9 increases cell apoptosis and sensitizes cells to chemotherapy. Additionally, DHX9 knockdown inactivates PI3K-AKT and ATR-Chk1 signaling, promotes R-loop accumulation, and leads to R-loop-mediated DNA damage.
Article
Clinical Neurology
Kun Wang, Sen Zhao, Zhixin Xie, Mingqi Zhang, Hengqiang Zhao, Xi Cheng, Yisen Zhang, Yuchen Niu, Jian Liu, Terry Jianguo Zhang, Ying Zhang, Zhihong Wu, Junsheng Chu, Xinjian Yang, Nan Wu
Summary: The study systematically investigated the contribution of germline variants to brain arteriovenous malformation (bAVM) and identified novel molecular pathways and candidate genes associated with bAVM. By analyzing de novo variants and performing gene-based rare variant association analysis, genes significantly enriched in bAVM patients were identified, shedding light on the biological basis of bAVM.
Review
Genetics & Heredity
Chiara Chiereghin, Erica Travaglino, Matteo Zampini, Elena Saba, Claudia Saitta, Elena Riva, Matteo Bersanelli, Matteo Giovanni Della Porta
Summary: Myelodysplastic syndromes (MDS) are clonal diseases driven by a complex combination of genetic mutations, resulting in ineffective hematopoiesis and an increased risk of progression to acute myeloid leukemia. These mutations can be categorized into a limited number of cellular pathways, influencing clinical phenotype, disease progression, and prognosis.
Article
Oncology
Rina Yarosh, Michelle A. Roesler, Thomas Murray, Adina Cioc, Betsy Hirsch, Phuong Nguyen, Erica Warlick, Jenny N. Poynter
Summary: The study found associations between smoking, history of autoimmune disease, and benzene exposure with de novo MDS, but not significant in tMDS. Among individuals with a previous cancer diagnosis, de novo MDS cases and controls were more likely to have had a previous solid tumor, while tMDS cases were more commonly associated with a previous hematologic malignancy.
CANCER CAUSES & CONTROL
(2021)
Article
Oncology
Seongseok Yun, Susan M. Geyer, Rami S. Komrokji, Najla H. Al Ali, Jinming Song, Mohammad Hussaini, Kendra L. Sweet, Jeffrey E. Lancet, Alan F. List, Eric Padron, David A. Sallman
Summary: The clinical relevance of serial molecular annotation during treatment in patients with myelodysplastic syndrome (MDS) or secondary acute myeloid leukemia (sAML) was investigated. The study found that mutation clearance (NGS-) was associated with improved overall survival (OS) and represented a potential biomarker for treatment outcomes, highlighting the importance of serial NGS evaluations during treatment.