scholarly journals Acute Lymphocytic Leukemia With KMT2A-ELL Fusion Mutation in a Patient With Untreated Chronic Lymphocytic Leukemia: A Case Report and Literature Review

2021 ◽  
Author(s):  
Shilin Zhang ◽  
Sennan Qiao ◽  
Wei Han ◽  
Ruiping Hu ◽  
Zhonghua Du ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Fusion Gene ◽  
Tp53 Gene ◽  
Lymphocytic Leukemia ◽  
Lower Limbs ◽  
Case Presentation ◽  
Coding Sequence ◽  
Patient Reported ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background: The concurrent of chronic lymphocytic leukemia (CLL) and acute myeloid leukemia (AML) in a patient is a rare situation, and has caused obstacles in clinical management. Case presentation: In the current study, we described a 64-year old female who was characterized by intermittent fatigue, edema of both lower limbs, dyspnea, and occasionally fever up to 39°C. The admission blood routine detections and the flow cytometry showed the patient was impaired by both CLL and AML. In RT-qPCR molecular detection, KMT2A-ELL fusion gene t (11:10) (q23:p13.1) was detected, which was verified by FISH detections. The next-generation sequencing (NGS) revealed a missense mutation of p.V157F in the coding sequence of TP53 gene, and frameshift mutations of p.V220fs and p.A382fs in the coding sequence of WT1. Conclusions: Collectively, the patient reported in this case was simultaneously impaired by CLL and AML. Our findings also inferred that the concurrent of CLL and AML might be attributed to the fusion mutation in KMT2A-ELL gene.

scholarly journals The Evolving Landscape of Chronic Lymphocytic Leukemia on Diagnosis, Prognosis and Treatment

Diagnostics ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 853
Author(s):  
Claudia Pérez-Carretero ◽  
Isabel González-Gascón-y-Marín ◽  
Ana E. Rodríguez-Vicente ◽  
Miguel Quijada-Álamo ◽  
José-Ángel Hernández-Rivas ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Gene Mutations ◽  
Lymphocytic Leukemia ◽  
Genetic Biomarkers ◽  
Research Activities ◽  
Routine Clinical Setting ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Over Time

The knowledge of chronic lymphocytic leukemia (CLL) has progressively deepened during the last forty years. Research activities and clinical studies have been remarkably fruitful in novel findings elucidating multiple aspects of the pathogenesis of the disease, improving CLL diagnosis, prognosis and treatment. Whereas the diagnostic criteria for CLL have not substantially changed over time, prognostication has experienced an expansion with the identification of new biological and genetic biomarkers. Thanks to next-generation sequencing (NGS), an unprecedented number of gene mutations were identified with potential prognostic and predictive value in the 2010s, although significant work on their validation is still required before they can be used in a routine clinical setting. In terms of treatment, there has been an impressive explosion of new approaches based on targeted therapies for CLL patients during the last decade. In this current chemotherapy-free era, BCR and BCL2 inhibitors have changed the management of CLL patients and clearly improved their prognosis and quality of life. In this review, we provide an overview of these novel advances, as well as point out questions that should be further addressed to continue improving the outcomes of patients.

scholarly journals TET2Overexpression in Chronic Lymphocytic Leukemia Is Unrelated to the Presence ofTET2Variations

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
María Hernández-Sánchez ◽  
Ana Eugenia Rodríguez ◽  
Alexander Kohlmann ◽  
Rocío Benito ◽  
Juan Luis García ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Lymphocytic Leukemia ◽  
Novel Mutations ◽  
Exon Arrays ◽  
Hematopoietic Malignancies ◽  
Healthy Donors ◽  
Polymerase Chain ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

TET2is involved in a variety of hematopoietic malignancies, mainly in myeloid malignancies. Most mutations ofTET2have been identified in myeloid disorders, but some have also recently been described in mature lymphoid neoplasms. In contrast to the large amount of data about mutations ofTET2, some data are available for gene expression. Moreover, the role of TET2 in chronic lymphocytic leukemia (CLL) is unknown. This study analyzes bothTET2expression and mutations in 48 CLL patients.TET2expression was analyzed by exon arrays and quantitative real-time polymerase chain reaction (qRT-PCR). Next-generation sequencing (NGS) technology was applied to investigate the presence ofTET2variations. Overexpression ofTET2was observed in B-cell lymphocytes from CLL patients compared with healthy donors (P= 0.004). In addition, in CLL patients, an overexpression ofTET2was also observed in the clonal B cells compared with the nontumoral cells (P= 0.002). However, no novel mutations were observed. Therefore, overexpression ofTET2in CLL seems to be unrelated to the presence of genomicTET2variations.

scholarly journals Severe pneumonia caused by Parvimonas micra: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Qing Yu ◽  
Lingling Sun ◽  
Zuqing Xu ◽  
Lumei Fan ◽  
Yunbo Du
Keyword(s):  
Bronchoalveolar Lavage Fluid ◽  
Case Reports ◽  
Severe Pneumonia ◽  
Lavage Fluid ◽  
Due Date ◽  
Case Presentation ◽  
Abdominal Abscesses ◽  
Parvimonas Micra ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background Parvimonas micra (P. micra) is a gram-positive anaerobic coccus that is detected widely on the skin, in the oral mucosa and in the gastrointestinal tract. In certain circumstances, P. micra can cause abdominal abscesses, bacteraemia and other infections. To the best of our knowledge, there have been no case reports describing the biological characteristics of P. micra-related pneumonia. These bacteria do not always multiply in an aerobic organ, such as the lung, and they could be easily overlooked because of the clinical mindset. Case presentation A 35-year-old pregnant woman was admitted to the emergency department 4 weeks prior to her due date who was exhibiting 5 points on the Glasgow coma scale. A computed tomography (CT) scan showed a massive haemorrhage in her left basal ganglia. She underwent a caesarean section and brain surgery before being admitted to the ICU. She soon developed severe pneumonia and hypoxemia. Given that multiple sputum cultures were negative, the patient’s bronchoalveolar lavage fluid was submitted for next-generation sequencing (NGS) to determine the pathogen responsible for the pneumonia; as a result, P. micra was determined to be the causative pathogen. Accordingly the antibiotic therapy was altered and the pneumonia improved. Conclusion In this case, we demonstrated severe pneumonia caused by the anaerobic organism P. micra, and the patient benefited from receiving the correct antibiotic. NGS was used as a method of quick diagnosis when sputum culture failed to distinguish the pathogen.

scholarly journals TP53 Gene 72 Arg/Pro (rs1042522) Single Nucleotide Polymorphism Contribute to Increase the Risk of B-Chronic Lymphocytic Leukemia in the Sudanese Population

2019 ◽  
Vol 20 (5) ◽  
pp. 1579-1585
Author(s):  
Ameen Abdulaziz Mohammed Basabaeen ◽  
Enaam Abdalrhman Abdelgader ◽  
Ebtihal Ahmed Babekir ◽  
Saadia Osman Abdelrahim ◽  
Nada Hassan Eltayeb ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Chronic Lymphocytic Leukemia ◽  
Tp53 Gene ◽  
Lymphocytic Leukemia ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

scholarly journals Impact Of TP53 Gene Promoter Methylation On Chronic Lymphocytic Leukemia Pathogenesis And Progression

2019 ◽  
Vol Volume 10 ◽  
pp. 399-404
Author(s):  
Waleed Haji Saeed ◽  
Adil Abozaid Eissa ◽  
Adnan Anwar Al-Doski
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Promoter Methylation ◽  
Gene Promoter ◽  
Tp53 Gene ◽  
Lymphocytic Leukemia

Mutational Status of the TP53 Gene As a Predictor of Response and Survival in Patients With Chronic Lymphocytic Leukemia: Results From the LRF CLL4 Trial

2011 ◽  
Vol 29 (16) ◽  
pp. 2223-2229 ◽  
Author(s):  
David Gonzalez ◽  
Pilar Martinez ◽  
Rachel Wade ◽  
Sarah Hockley ◽  
David Oscier ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Survival Data ◽  
Prognostic Value ◽  
Gene Mutations ◽  
Progression Free Survival ◽  
Tp53 Gene ◽  
Lymphocytic Leukemia ◽  
Tp53 Mutations ◽  
Mutational Status ◽  
Gene Tp53

Purpose TP53 mutations have been described in chronic lymphocytic leukemia (CLL) and have been associated with poor prognosis in retrospective studies. We aimed to address the frequency and prognostic value of TP53 abnormalities in patients with CLL in the context of a prospective randomized trial. Patients and Methods We analyzed 529 CLL samples from the LRF CLL4 (Leukaemia Research Foundation Chronic Lymphocytic Leukemia 4) trial (chlorambucil v fludarabine with or without cyclophosphamide) at the time of random assignment for mutations in the TP53 gene. TP53 mutation status was correlated with response and survival data. Results Mutations of TP53 were found in 40 patients (7.6%), including 25 (76%) of 33 with 17p deletion and 13 (3%) of 487 without that deletion. There was no significant correlation between TP53 mutations and age, stage, IGHV gene mutations, CD38 and ZAP-70 expression, or any other chromosomal abnormality other than 17p deletion, in which concordance was high (96%). TP53 mutations were significantly associated with poorer overall response rates (27% v 83%; P < .001) and shorter progression-free survival (PFS) and overall survival (OS; 5-year PFS: 5% v 17%; 5-year OS: 20% v 59%; P < .001 for both). Multivariate analysis that included baseline clinical variables, treatment, and known adverse genetic factors confirmed that TP53 mutations have added prognostic value. Conclusion TP53 mutations are associated with impaired response and shorter survival in patients with CLL. Analysis of TP53 mutations should be performed in patients with CLL who have progressive disease before starting first-line treatment, and those with mutations should be selected for novel experimental therapies.

scholarly journals THE SPECTRUM OF GENETIC DEFECTS IN CHRONIC LYMPHOCYTIC LEUKEMIA

2012 ◽  
Vol 4 (1) ◽  
pp. e2012076 ◽  
Author(s):  
Davide Rossi ◽  
Marco Fangazio ◽  
Gianluca Gaidano
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Lymphocytic Leukemia ◽  
Leukemic Cells ◽  
Western World ◽  
Tp53 Mutations ◽  
High Risk Disease ◽  
Risk Patients ◽  
New Biomarkers ◽  
Molecular Bases ◽  
Generation Sequencing

Chronic lymphocytic leukemia (CLL) is the most common leukemia in the Western world and shows a remarkable heterogeneity in the clinical course. Understand the genetic basis of CLL may help in clarifying the molecular bases of this clinical heterogeneity. Recurrent chromosomal aberrations at 13q14, 12q, 11q22-q23 and 17p13, and TP53 mutations are the first genetic lesions identified as drivers of the disease. While some of these lesions are associated with poor outcome (17p13 deletion, TP53 mutations and, to a lesser extent, 11q22-q23 deletion) others are linked to a favorable course (13q14 deletion as sole aberration). Recently, next generation sequencing has revealed additional recurrent alterations in CLL targeting the NOTCH1, SF3B1, and BIRC3 genes. NOTCH1, SF3B1, and BIRC3 lesions provide: i) new insights on the mechanisms of leukemogenesis, tumor progression and chemoresistance in this leukemia; ii) new biomarkers for the identification of poor risk patients, having individually shown correlations with survival in CLL; and iii) new therapeutic targets, especially in the setting of high risk disease. This review will summarize the most important genetic aberrations in CLL and how our improved knowledge of the genome of leukemic cells may translate into improved patients' management.

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