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.
Article
Oncology
Pamela Acha, Laura Palomo, Francisco Fuster-Tormo, Blanca Xicoy, Mar Mallo, Ana Manzanares, Javier Grau, Silvia Marce, Isabel Granada, Marta Rodriguez-Luaces, Maria Diez-Campelo, Lurdes Zamora, Francesc Sole
Summary: Myelodysplastic syndromes (MDS) are a heterogeneous group of hematological diseases, with MDS del(5q) being a well-defined subtype characterized by a cytogenetic abnormality. Using a single cell approach, intratumoral heterogeneity in four patients with MDS del(5q) was analyzed, revealing the importance of patient-specific molecular characterization.
Article
Hematology
Ayalew Tefferi, Farah Fleti, Onyee Chan, Najla H. Al Ali, Aref Al-Kali, Kebede H. Begna, James M. Foran, Talha Badar, Nandita Khera, Mithun Shah, Devendra Hiwase, Eric Padron, David A. Sallman, Animesh Pardanani, Daniel A. Arber, Attilio Orazi, Kaaren K. Reichard, Rong He, Rhett P. Ketterling, Naseema Gangat, Rami Komrokji
Summary: In MDS patients with del(5q), therapy-related setting and TP53 variant allele frequency >=22% were identified as independent risk factors for survival. This information may inform treatment decision-making in MDS-del(5q).
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Medicine, General & Internal
Hai-Ping Liang, Xing-Chun Luo, Ya-Li Zhang, Bei Liu
Summary: This study reported a case of MDS with both del(5q) and inv(3), which is associated with a poor prognosis. Azacitidine may achieve short-term remission for such patients.
WORLD JOURNAL OF CLINICAL CASES
(2022)
Article
Oncology
Onyee Chan, Najla Al Ali, David Sallman, Eric Padron, Jeffrey Lancet, Rami Komrokji
Summary: This study retrospectively reviewed 132 del(5q) MDS patients and described the treatment outcomes and prognostic impact of gene mutations. The study found that lenalidomide was an effective treatment for del(5q) MDS patients, but hypomethylating agents after lenalidomide failure did not provide survival advantage. There was no significant difference in overall survival between patients with or without TP53 mutations, but patients with SF3B1 mutations had inferior survivals.
CLINICAL LYMPHOMA MYELOMA & LEUKEMIA
(2022)
Review
Biochemistry & Molecular Biology
Verena Petzer, Igor Theurl, Gunter Weiss, Dominik Wolf
Summary: Systemic iron overload in patients with MDS is multifactorial, mainly due to ineffective erythropoiesis and chronic red blood cell transfusion. Iron homeostasis varies among different MDS subtypes and its role in MDS is increasingly recognized. Genetic alterations, such as mutations in TET2, can lead to disturbances in iron homeostasis and hematopoiesis, highlighting the need for comprehensive understanding and development of future therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Tatiana Raskovalova, Laura Scheffen, Marie-Christine Jacob, Simon Chevalier, Sylvie Tondeur, Benedicte Bulabois, Mathieu Meunier, Gautier Szymanski, Christine Lefebvre, Charlotte Planta, Chantal Dumestre-Perard, Nicolas Gonnet, Frederic Garban, Raymond Merle, Sophie Park, Jose Labarere
Summary: This study aims to compare the accuracy and agreement between a single-use dry reagent and a liquid reagent in quantifying peripheral blood neutrophil myeloperoxidase expression in suspected MDS patients.
Article
Hematology
Ursula S. A. Stalmann, Fabio Ticconi, Inge A. M. Snoeren, Ronghui Li, Helene F. E. Gleitz, Glenn S. Cowley, Marie E. McConkey, Aaron B. Wong, Stephani Schmitz, Stijn N. R. Fuchs, Shubhankar Sood, Nils B. Leimkuehler, Sergio Martinez-Hoyer, Bella Banjanin, David Root, Tim H. Bruemmendorf, Juliette E. Pearce, Andreas Schuppert, Eric M. J. Bindels, Marieke A. Essers, Dirk Heckl, Thomas Stiehl, Ivan G. Costa, Benjamin L. Ebert, Rebekka K. Schneider
Summary: Genetic haploinsufficiency plays a crucial role in the clonal dominance of 5q-HSCs, providing a unique competitive advantage through increased HSC self-renewal and proliferation capacity, as well as increased fitness under inflammatory stress.
Article
Biochemistry & Molecular Biology
Yuliya Veryaskina, Sergei Titov, Igor Kovynev, Tatiana Pospelova, Sofya Fyodorova, Yana Yu. Shebunyaeva, Dina Sumenkova, Igor Zhimulev
Summary: This study analyzed the unique miRNA expression profiles in different types of B-cell lymphomas and found that these profiles differ between bone marrow and lymph nodes. This difference may be attributed to the tumor microenvironment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Elena Crisa, Paola Boggione, Maura Nicolosi, Abdurraouf Mokhtar Mahmoud, Wael Al Essa, Bassel Awikeh, Anna Aspesi, Annalisa Andorno, Renzo Boldorini, Irma Dianzani, Gianluca Gaidano, Andrea Patriarca
Summary: Myelodysplastic syndromes (MDS) arising in the context of inherited bone marrow failure syndromes (IBMFS) present unique challenges in terms of prognosis and treatment, requiring early detection and hematopoietic stem cell transplantation to improve outcomes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Yuliya A. Veryaskina, Sergei E. Titov, Igor B. Kovynev, Tatiana Pospelova, Igor F. Zhimulev
Summary: This study aims to determine the unique profile of miRNA expression in bone marrow (BM) affected by Non-Hodgkin's lymphoma (NHL) and differentiate it from reactive BM changes and acute leukemia (AL). The study found that miRNA-124, miRNA-221, and miRNA-15a were significantly downregulated in NHL, while let-7a was significantly upregulated. The expression levels of let-7a/miRNA-124 may serve as a highly sensitive and specific biomarker for distinguishing BM changes in NHL from those in AL and non-cancerous blood diseases (NCBD).
Article
Environmental Sciences
Suchismita Daw, Sujata Law
Summary: The study examined the cellular signaling pathways and oxidative stress status in the bone marrow of MDS patients, and found that treatment with quercetin can improve autophagy process in cells, reduce oxidative damage, and restore the function of mitochondria and lysosomes.
ENVIRONMENTAL TOXICOLOGY
(2021)
Article
Pathology
Roya Shahidi, Muhajir Mohamed, Archana Sharma, Jessica Heenan, Julia Gardner, Sam Hitchins
Summary: This study aimed to evaluate the impact of azacitidine treatment on MDS patients with bone marrow fibrosis. The study found that patients with fibrotic marrow had shorter overall survival and event-free survival compared to patients without fibrosis. Bone marrow fibrosis was an independent factor affecting overall survival.
Article
Medicine, General & Internal
Jing Jiang, Jiaojiao Xin, Wenchao Ding, Dongyan Shi, Suwan Sun, Beibei Guo, Xingping Zhou, Chufan Zheng, Jun Li
Summary: This study identified miRNAs that play important regulatory roles in the differentiation of human bone marrow mesenchymal stem cells (hBMSCs) into hepatocyte-like cells and liver regeneration. Manipulation of these miRNAs significantly improved hepatocyte generation and showed potential for future clinical applications.
INTERNATIONAL JOURNAL OF MEDICAL SCIENCES
(2022)
Article
Medicine, General & Internal
Carlo Pescia, Francesca Boggio, Giorgio Alberto Croci, Ramona Cassin, Marco Barella, Loredana Pettine, Gianluigi Reda, Elena Sabattini, Carlo Finelli, Umberto Gianelli
Summary: Results of the retrospective analysis on 57 high-risk MDS cases treated with azacitidine revealed that the treatment had minimal impact on bone marrow morphology, but led to a slight decrease in CD34+, CD117+, and p53+ cells. Pre-treatment IPSS-R cytogenetic score, lymphocytic infiltrate, and p53+ elements were associated with AML progression, while pre-treatment lymphocytic infiltrate was linked to better therapy response. Post-treatment blast count, lymphocytic infiltrate, and p53+ elements showed significant correlations with prognosis and treatment response.
JOURNAL OF CLINICAL MEDICINE
(2021)