54 results match your criteria: "Myelodysplastic Syndromes Associated With Isolated Del 5q"
Lenalidomide in Transfusion-Dependent IPSS Low- or Intermediate-1-Risk Myelodysplastic Syndromes and Isolated Del(5q): Results of a European Postauthorization Safety Surveillance Study.
Clin Lymphoma Myeloma Leuk
October 2024
MDS Unit, AOU Careggi, MD, PhD, University of Florence, Florence, Italy.
Article Synopsis
- This study evaluated the safety and effectiveness of lenalidomide in patients with transfusion-dependent myelodysplastic syndromes (MDS) associated with a specific genetic deletion (del[5q]), focusing on its use in routine clinical care from 2014 to 2022.
- A total of 296 patients were involved, with key findings showing a 24-month cumulative incidence of acute myeloid leukemia (AML) progression at 12.7% and an overall survival probability of 78.3% at 24 months.
- The study reported that over two-thirds of patients experienced serious side effects, with 35.5% discontinuing treatment due to these adverse events, but no new safety issues were identified
Influence of TP53 gene mutations and their allelic status in myelodysplastic syndromes with isolated 5q deletion.
Blood
October 2024
Department of Hematology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Article Synopsis
- Mutations in the TP53 gene, especially multihit alterations, are linked to worse clinical outcomes in patients with myelodysplastic syndrome (MDS).
- This study analyzed TP53 abnormalities in 682 patients with MDS who had an isolated deletion of chromosome 5 (MDS-del(5q)), revealing that 24% had multihit mutations, indicating a greater risk for leukemic transformation.
- The study found that the effect of monoallelic mutations varies with the variant allele frequency (VAF); lower VAF (<20%) behaved like wild-type TP53, while higher VAF (≥20%) showed outcomes similar to multihit mutations, highlighting the need for careful consideration of TP53 status in
Clinicopathological characteristics of myelodysplastic syndromes with del(5q) in Taiwan.
Malays J Pathol
December 2023
Chi-Mei Medical Center, Department of Pathology, Tainan, Taiwan.
Article Synopsis
- Myelodysplastic syndromes (MDS) involve ineffective blood cell production and are analyzed in a study of 32 Taiwanese patients specifically with a deletion on chromosome 5 (del(5q)).
- The study categorized patients into three groups based on their cytogenetic abnormalities and found that those with del(5q) alone had significantly better survival rates compared to those with additional abnormalities.
- The research highlights unique clinical and morphological features in Taiwanese patients with del(5q) MDS, suggesting a need for further studies across different regions to explore variations in the disease.
Cytogenetics in the management of myelodysplastic neoplasms (myelodysplastic syndromes, MDS): Guidelines from the groupe francophone de cytogénétique hématologique (GFCH).
Curr Res Transl Med
December 2023
Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest F-29200, France; CHRU Brest, Laboratoire de Génétique Chromosomique, Service de génétique, Brest, France. Electronic address:
Article Synopsis
- - Myelodysplastic neoplasms (MDS) are blood disorders often linked to chromosomal abnormalities, with 40-45% of cases showing these changes at diagnosis and up to 80% in post-treatment MDS.
- - Recent changes in classifications by the WHO and ICC have introduced a new entity focusing on biallelic TP53 inactivation, which necessitates detailed genetic investigations, particularly on the TP53 locus.
- - While molecular features are becoming more essential for diagnosing and prognosing MDS, traditional cytogenetics—including karyotyping—remains crucial, and new scoring systems have been developed combining genetic mutations with established cytogenetic parameters.
Myelodysplastic Syndromes with Isolated del(5q): Value of Molecular Alterations for Diagnostic and Prognostic Assessment.
Cancers (Basel)
November 2022
MDS Group, Institut de Recerca Contra la Leucèmia Josep Carreras, ICO-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.
Article Synopsis
- Myelodysplastic syndromes (MDS) are a group of blood disorders where the bone marrow doesn't produce enough healthy blood cells, leading to symptoms like low blood cell counts and abnormalities in cell structure.
- The World Health Organization (WHO) classifies MDS based on these characteristics, and while many patients show genetic changes, only the subtype with isolated del(5q) is distinctly defined by a specific chromosomal alteration.
- Advances in research and technology have improved the understanding of MDS, particularly regarding genetic factors that affect prognosis and treatment responses, with a focus on the relevance of somatic mutations and cytogenetic changes associated with del(5q).
Cytogenetic characteristics in Vietnamese patients diagnosed with primary myelodysplastic syndromes.
Leuk Res Rep
August 2022
Bach Mai Hospital, Center for Hematology and Blood Transfusion, 78 Giai Phong Road, Hanoi, Vietnam.
Article Synopsis
- The study investigates the karyotype's role in diagnosing and predicting outcomes in Myelodysplastic Syndromes (MDS) among different races, focusing on cytogenetic variations.
- Among 60 patients analyzed, 41.67% had abnormal karyotypes, with a significant portion exhibiting complex karyotypes linked to a higher likelihood of having MDS with excess blasts (MDS-EB).
- The specific chromosomal variations observed, such as del(5q), show different prevalence rates when compared to patient populations in Europe and North Africa, aligning more closely with data from East Asian countries like China and Japan.
[MDS with deletion 5q - a distinct subtype of myelodysplastic syndromes].
Ther Umsch
March 2022
Departement Medizin, Medizinische Onkologie und Hämatologie, Kantonsspital Winterthur.
Article Synopsis
- - MDS with deletion 5q (del(5q)) is a specific type of myelodysplastic syndromes characterized by a loss of the long arm of chromosome 5, leading to a unique biological behavior and treatment approach.
- - This condition generally has a better prognosis and can be effectively treated with the drug lenalidomide.
- - It's crucial to differentiate isolated del(5q) MDS from cases with more complex chromosomal abnormalities, as the latter variants are considered high-risk and require different management strategies.
Myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T): Mayo-Moffitt collaborative study of 158 patients.
Blood Cancer J
February 2022
Department of Malignant Hematology, H. Lee Moffitt Cancer Center, Tampa, FL, USA.
Article Synopsis
- The WHO now classifies myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) as a separate entity, moving away from previous categories that didn't account for key exclusionary criteria.
- A study involving 158 patients found that age (≥70 years), low hemoglobin levels (≤10 g/dL), and abnormal karyotypes were predictors of reduced overall survival (OS), leading to a risk stratification model based on these factors.
- Comparisons between MDS/MPN-RS-T and another subtype (MDS/MPN-U-RS) showed no significant differences in thrombosis rates or survival outcomes, although
Age, Blasts, Performance Status and Lenalidomide Therapy Influence the Outcome of Myelodysplastic Syndrome With Isolated Del(5q): A Study of 58 South American Patients.
Clin Lymphoma Myeloma Leuk
January 2022
Service of Hematology, Transfusion and Cell Therapy and Laboratory of Medical Investigation in Pathogenesis and Directed Therapy in Onco-Immuno-Hematology (LIM-31) HCFMUSP, University of Sao Paulo Medical School, Sao Paulo, Brazil; Genetics Laboratory, Hospital Israelita Albert Einstein, Sao Paulo, Brazil.
Article Synopsis
- Myelodysplastic Syndrome (MDS) with isolated deletion 5q shows low risk of leukemia and long survival, making up 3%-4.5% of MDS cases in Latin America, as per WHO classifications.
- A study analyzed 58 patients (16 from Argentina and 42 from Brazil) between 1999-2019, finding a median age of 67 years, with many exhibiting anemia, transfusion dependency, and bone marrow dysplasia.
- Results indicated that older age, poor performance status, and high bone marrow blast percentages signal a worse prognosis, while lenalidomide treatment was associated with improved overall survival in this patient population.
Loss of 5q in myeloid malignancies - A gain in understanding of biological and clinical consequences.
Blood Rev
March 2021
Division of Hematological Malignancies, Department of Medical Oncology, Dana-Farber Cancer Institute; Harvard Medical School, Boston, MA, USA. Electronic address:
Article Synopsis
- Hemizygous deletions of the long arm of chromosome 5 (del(5q)) are common in myeloid cancers like myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), leading to the loss of multiple important genes, including RPS14.
- In MDS, del(5q) is considered a lower-risk factor, while in AML it signifies a higher-risk condition, often signaling secondary AML resulting from previous MDS.
- Lenalidomide has shown efficacy in treating del(5q)-related MDS by promoting transfusion independence and cytogenetic remission, and ongoing research aims to deepen our understanding of its effectiveness and explore new treatment strategies for patients resistant to this
SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS.
Blood
July 2020
Department of Molecular Medicine, University of Pavia & Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Article Synopsis
- The 2016 WHO classification of hematologic tumors now better connects morphology and genetics, but isolated del(5q) remains the only genetically defined myelodysplastic syndrome (MDS) subtype.
- SF3B1 mutations are common in MDS patients, and those with this mutation present distinct features like ring sideroblasts and a mild clinical progression, identifying SF3B1-mutant MDS as a unique condition.
- The proposed diagnostic criteria for SF3B1-mutant MDS emphasize cytopenia and specific genetic and morphological traits, which are important for determining prognosis and potential treatment options like luspatercept.
MDS with 5q deletion and rare positive mastocytosis: a diagnostic and therapeutic challenge.
BMJ Case Rep
April 2019
Department of Hematology and Medical Oncology, Oakland University William Beaumont School of Medicine, Royal Oak, Michigan, USA.
Article Synopsis
- A patient diagnosed with myelodysplastic syndrome (MDS) featuring a 5q deletion received repeat bone marrow biopsies after 6 months of lenalidomide treatment to check for hematological progress.
- The biopsies continued to show MDS with the 5q deletion, but also indicated a small population of atypical mast cells, leading to a diagnosis of systemic mastocytosis (SM) marked by the presence of the D816V mutation.
- Although MDS with SM is recognized, this case is unique as it is one of the few to document MDS with a 5q deletion alongside positive D816V mastocytosis, highlighting lenalidomide's effectiveness in managing this complex condition.
Pediatric acute myeloid leukemia with t(7;21)(p22;q22).
Genes Chromosomes Cancer
August 2019
Department of Pathology, University of Utah, Salt Lake City, Utah.
Article Synopsis
- The t(7;21)(p22;q22) translocation, resulting in the RUNX1-USP42 fusion, is a rare genetic abnormality found in pediatric acute myeloid leukemia (AML) and is linked to poor prognosis, though its significance is still unclear due to limited studies.
- Three pediatric AML patients were observed with this translocation, all presenting with low blood cell counts and abnormal expression markers on leukemia cells; one had the translocation alone, while the others had additional genetic mutations.
- After undergoing chemotherapy followed by allogeneic hematopoietic stem cell transplantation (HSCT), one patient succumbed to complications, but the other two achieved complete remission, highlighting the variability in clinical outcomes linked to
Selection of patients with myelodysplastic syndromes from a large electronic medical records database and a study of the use of disease-modifying therapy in the United States.
BMJ Open
July 2018
Department of Statistics and Biostatistics, Celgene Corporation, Summit, New Jersey, USA.
Article Synopsis
- The study aimed to create a better understanding of how patients with myelodysplastic syndromes (MDS) in the USA are treated and what factors affect their access to disease-modifying therapy.
- It analyzed data from over 5,000 MDS patients treated between 2006 and 2014, finding that most patients primarily received erythropoiesis-stimulating agents (ESAs) and that only a small percentage received other disease-modifying therapies like lenalidomide (LEN) and hypomethylating agents (HMAs).
- Key factors influencing quicker access to disease-modifying therapy included having fewer health complications, a more recent diagnosis, lower initial hemoglobin levels, being younger than 80, and
Lenalidomide treatment of myelodysplastic syndromes with chromosome 5q deletion: Results from the National Registry of the Italian Drug Agency.
Eur J Haematol
July 2018
Department of Medicine, Institute of Hematology and Center for Hemato-Oncology Research (C.R.E.O.), University of Perugia, Perugia, Italy.
Article Synopsis
- The study focuses on the effectiveness of Lenalidomide (LEN) in treating myelodysplastic syndromes with the del(5q) chromosomal deletion, showing high rates of erythroid response and good prognosis.
- Conducted across 45 Haematological Centres in Italy, the study examined patient data to assess the appropriateness of LEN treatment and its impact on haematological and cytogenetic outcomes.
- Results indicated a 92.8% overall erythroid response and a 22.6% cytogenetic remission, with distinct features in disease progression towards acute myeloid leukemia (AML) compared to higher risk myelodysplastic syndromes (MDS).
Recurrent Cytogenetic Abnormalities in Myelodysplastic Syndromes.
Methods Mol Biol
January 2018
Victorian Cancer Cytogenetics Service, St. Vincent's Hospital, 41 Victoria Parade, Fitzroy, Melbourne, VIC, 3065, Australia.
Article Synopsis
- Cytogenetic analysis is crucial for diagnosing, classifying, and predicting outcomes in myelodysplastic syndromes (MDS), with some abnormalities being key indicators of the disease.
- The del(5q) abnormality is the only specific MDS subtype recognized at the molecular level, with identified genes linked to the unique symptoms of 5q- syndrome.
- Combining cytogenetics with molecular genetics could enhance patient care and improve treatment outcomes in MDS and related conditions like chronic myelomonocytic leukemia (CMML).
Article Synopsis
- * A specific case study highlights a patient whose long-term MGUS progressed to both MM and MDS characterized by severe pancytopenia, leading to a modified treatment approach with lenalidomide and dexamethasone.
- * The patient experienced significant improvement, achieving transfusion independence and showing a complete cytogenetic response to MDS after 14 months, while the link between MGUS and MDS remains poorly understood, suggesting underlying stem cell issues.
Colony-forming unit cell (CFU-C) assays at diagnosis: CFU-G/M cluster predicts overall survival in myelodysplastic syndrome patients independently of IPSS-R.
Oncotarget
October 2016
MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
Article Synopsis
- CFU-C assays were conducted on bone marrow samples from 365 patients with newly-diagnosed myelodysplastic syndrome (MDS) to assess the characteristics and prognostic significance of hematopoietic stem cells.
- The study identified that the quantities of BFU-E, CFU-E, and CFU-G/M were significantly lower in MDS patients compared to normal values, and a specific ratio of cluster to CFU-G/M indicated poorer outcomes.
- The findings suggest that abnormalities in the proliferation and differentiation of blood cell precursors in MDS patients can help predict survival outcomes, particularly for those with higher-risk conditions.
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome.
Sci Transl Med
May 2016
University of Washington, Seattle, WA 98195, USA.
Article Synopsis
- Diamond Blackfan anemia (DBA) and myelodysplastic syndrome (MDS) with isolated del(5q) are serious types of anemia linked to problems with ribosome assembly, but the exact cause of the anemia is unclear.
- Research on patient marrow cells shows that the translation of globin protein is slow, while heme synthesis is normal, leading to an imbalance that causes cell death in early erythroid precursors.
- Treatment with succinylacetone, a heme synthesis inhibitor, significantly improved red blood cell production in DBA and del(5q) MDS cultures, indicating that managing heme levels could be key in treating these anemias.
CSNK1A1 mutations and isolated del(5q) abnormality in myelodysplastic syndrome: a retrospective mutational analysis.
Lancet Haematol
May 2015
Department of Haematological Medicine, King's College London School of Medicine, Rayne Institute, King's College London, London, UK; Department of Haematology, King's College Hospital, King's College London, London, UK. Electronic address:
Article Synopsis
- The study aimed to investigate the frequency and clinical significance of CSNK1A1 mutations in patients with myelodysplastic syndrome and associated myeloid neoplasms, focusing on those with isolated del(5q) abnormalities.
- Out of 250 patients with myeloid neoplasms, 39 had isolated del(5q), and 7 of these (18%) carried missense mutations in CSNK1A1, a gene involved in bone marrow proliferation and ATP catalysis.
- The presence of CSNK1A1 mutations correlated with poor treatment response and disease progression in patients, similar to TP53 mutations, indicating they contribute to a worse prognosis in del(5q) abnormalities.
Short- and long-term benefits of lenalidomide treatment in patients with lower-risk del(5q) myelodysplastic syndromes.
Ann Oncol
January 2016
Malignant Hematology Department, Moffitt Cancer Center, Tampa, USA.
Article Synopsis
- The treatment for myelodysplastic syndromes (MDS) starts with evaluating the patient's karyotype and risk factors, with lenalidomide being a key medication for those with lower-risk MDS and chromosome 5q deletion (del(5q)).
- Lenalidomide has shown effectiveness not only in reducing the need for red blood cell transfusions, but it also seems to positively impact the disease course by suppressing cancerous cells, as evidenced by data from significant clinical trials.
- Clinical benefits of lenalidomide include increased rates of transfusion independence, long-term disease response, improved quality of life, and no significant increase in risk of developing acute myeloid leukemia (AML).
Telomere dynamics in patients with del (5q) MDS before and under treatment with lenalidomide.
Leuk Res
September 2015
Department of Hematology, Oncology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Article Synopsis
- Myelodysplastic syndrome (MDS) with an isolated deletion of chromosome 5q (del (5q) MDS) is a specific blood disorder that can be effectively treated with lenalidomide, leading to improved patient outcomes and reduced need for blood transfusions.
- In a study of del (5q) MDS patients, researchers found that these patients had shorter telomeres compared to healthy individuals, indicating a compromised genetic stability linked to their condition.
- Lenalidomide treatment resulted in significant telomere lengthening towards normal levels within six months, suggesting that the treatment promotes a return to healthy blood cell production and does not increase the risk of other blood cancers.
Article Synopsis
- A type of myelodysplastic syndrome (MDS) called 5q-syndrome, linked to deletions on chromosome 5, can be treated with the drug lenalidomide (LEN).
- In a study with 13 MDS del(5q) patients, researchers found abnormal levels of certain proteins in their blood, which normalized after LEN treatment.
- The presence of MRP1 mRNA in some patients suggests that monitoring these protein levels could help track treatment effectiveness, although its expression appears unrelated to LEN treatment itself.
PP2A: The Achilles Heal in MDS with 5q Deletion.
Front Oncol
October 2014
Immunology Program and Malignant Hematology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL , USA.
Article Synopsis
- Myelodysplastic syndromes (MDS) include various disorders, with one subtype featuring a deletion of chromosome 5q (del(5q)) that results in unique clinical characteristics and sensitivity to the drug lenalidomide.
- The ineffective production of red blood cells in del(5q) MDS is linked to the deletion of the RPS14 gene, leading to increased p53 activity and resulting in the death of erythroid cells.
- Lenalidomide treatment can improve patient outcomes, but many eventually develop resistance due to overexpression of PP2Acα, prompting research into stronger inhibitors of PP2A as new therapeutic options.