72 results match your criteria: "Biology and Pathology Center[Affiliation]"

We present the 6-year update of a phase 2 study evaluating the combination of obinutuzumab and idelalisib in relapse/refractory Waldenstrom macroglobulinemia. The results of the REMODEL trial demonstrated interesting efficacy in a high-risk genotype profile population. The primary endpoint was achieved with a median PFS of 25.

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  • This study investigates genomic imbalances in 317 newly diagnosed T-cell acute lymphoblastic leukemia (T-ALL) patients using single nucleotide polymorphism (SNP) array analysis, focusing on clinical features and outcomes.* -
  • The majority of patients (approximately 96%) showed at least one genomic imbalance, with del(9)(p21) being the most common, followed by other significant deletions involving various chromosomal regions.* -
  • The research identified specific genomic patterns related to age and subclassifications of T-ALL, and established a threshold of 15 imbalances for defining high- and low-risk relapse groups, highlighting the importance of genomic complexity in predicting survival outcomes.*
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  • * Researchers studied 67 samples from 48 patients to identify genetic changes linked to high-risk disease stages and worse survival rates, finding specific genomic alterations like gain7q and del6q16.3 associated with poor prognosis.
  • * The study revealed different evolutionary pathways of MF, as well as potential biomarkers for identifying patients at higher risk of disease progression, emphasizing the importance of genomic analysis in managing MF.
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The bendamustine-rituximab (BR) schedule is an efficient first-line therapy in Waldenström macroglobulinaemia (WM). A previous analysis of 69 patients who received this treatment confirmed a high response rate and good progression-free (PFS) and overall survival (OS). With a median follow-up of 76.

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  • * A study analyzed a large international group of patients with specific genetic variants (RUNX1, GATA2, DDX41) to identify unique genetic patterns linked to the development of these malignancies, particularly noting different tendencies for early-onset clonal hematopoiesis (CH).
  • * Findings suggest that further monitoring and clinical trials should focus on specific genetic variants to improve preemptive treatments and surveillance for patients, especially those with RUNX1 and DDX41 mutations.
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Apart from the MYD88 mutation, extensive information exists on the molecular mechanisms in Waldenström's Macroglobulinemia and its potential utility in the diagnosis and treatment tailoring. However, no consensus recommendations are yet available. Consensus Panel 3 (CP3) of the 11th International Workshop on Waldenström's Macroglobulinemia (IWWM-11) was tasked with reviewing the current molecular necessities and best way to access the minimum data required for a correct diagnosis and monitoring.

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Next-CLL, a New Next-Generation Sequencing-Based Method for Assessment of IGHV Gene Mutational Status in Chronic Lymphoid Leukemia.

J Mol Diagn

May 2023

Hematology Laboratory, Hospices Civils de Lyon, Pierre-Bénite, France; Team Lymphoma Immuno-Biology, Centre International de Recherche en Infectiologie U1111 INSERM, Lyon, France; University Claude Bernard Lyon I, Lyon, France. Electronic address:

Article Synopsis
  • Current guidelines for chronic lymphocytic leukemia (CLL) recommend checking the IGHV gene mutation status before starting treatment, but traditional NGS methods face limitations in cost and technical requirements.
  • The new Next-CLL method allows for IGHV mutation analysis using standard NGS devices, streamlining the process in routine labs and demonstrating higher reliability compared to traditional Sanger sequencing.
  • Validation of Next-CLL showed perfect concordance with reference techniques and no significant bias in IGHV usage, making it a practical and effective tool for evaluating prognosis and treatment options for CLL patients.
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Background: Bladder cancer detection and follow-up is based on cystoscopy and/or cytology, but it remains imperfect and invasive. Current research focuses on diagnostic biomarkers that could improve bladder cancer detection and follow-up by discriminating patients at risk of aggressive cancer who need confirmatory TURBT (Transurethral Resection of Bladder Tumour) from patients at no risk of aggressive cancer who could be spared from useless explorations.

Objective: To perform a systematic review of data on the clinical validity and clinical utility of eleven urinary biomarkers (VisioCyt, XpertBladder, BTA stat, BTA TRAK™, NMP22 BC, NMP22 BladderChek Test, ImmunoCyt™/uCyt1+™, UroVysion Bladder Cancer Kit, Cxbladder, ADXBLADDER, Urodiag) for bladder cancer diagnosis and for non-muscle invasive bladder cancer (NMIBC) follow-up.

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Purpose: Structural variants (SVs) play an important role in inherited retinal diseases (IRD). Although the identification of SVs significantly improved upon the availability of genome sequencing, it is expected that involvement of SVs in IRDs is higher than anticipated. We revisited short-read genome sequencing data to enhance the identification of gene-disruptive SVs.

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The diagnosis of Waldenström's macroglobulinemia (WM), an IgM-associated lymphoplasmacytic lymphoma, can be challenging due to the different forms of disease presentation. Furthermore, in recent years, WM has witnessed remarkable progress on the diagnostic front, as well as a deeper understanding of the disease biology, which has affected clinical practice. This, together with the increasing variety of tools and techniques available, makes it necessary to have a practical guidance for clinicians to perform the initial evaluation of patients with WM.

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  • The study examines ethical concerns regarding resource allocation and mortality among elderly patients with COVID-19 admitted to intensive care units (ICUs) during early 2020.
  • A total of 231 patients over 60 were analyzed, revealing that 26% died within 30 days; key factors influencing mortality included age, autonomy, severity of illness, and the presence of dementia.
  • A nomogram was created to help visualize the risk factors for 30-day mortality, facilitating better decision-making for healthcare providers and communication with patients' families.
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The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.

Haematologica

November 2021

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia; School of Medicine, University of Adelaide, Adelaide, SA.

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  • MYD88 activating mutations are commonly found in Waldenström macroglobulinemia (WM) and aggressive B-cell lymphomas, indicating their role in these diseases.
  • A new mouse model was created to study MYD88 activation, showing that it leads to increased IgM levels, spleen enlargement, and a progression from polyclonal to monoclonal immunoglobulins as the mice age.
  • Transcriptomic analysis of the Myd88 mice revealed a link between MYD88 activation, tumor proliferation, and features similar to those found in WM, suggesting a shared biological mechanism.
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Conventional therapies for patients with T-cell prolymphocytic leukemia (T-PLL), such as cytotoxic chemotherapy and alemtuzumab, have limited efficacy and considerable toxicity. Several novel agent classes have demonstrated preclinical activity in T-PLL, including inhibitors of the JAK/STAT and T-cell receptor pathways, as well as histone deacetylase (HDAC) inhibitors. Recently, the BCL-2 inhibitor venetoclax also showed some clinical activity in T-PLL.

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Context: When an SDHx mutation is identified in a patient with a pheochromocytoma (PCC) or a paraganglioma (PGL), predictive genetic testing can detect mutation carriers that would benefit from screening protocols.

Objective: To define the tumor detection rate in a large cohort of asymptomatic SDHX mutation carriers.

Design And Setting: Retrospective multicentric study in 6 referral centers.

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FOXL2 somatic mutation occurs in a high percentage of ovarian adult granulosa cell tumors and DICER1 mutations in a high proportion of Sertoli-Leydig cell tumors. These mutations have only been studied in a limited number of juvenile granulosa cell tumors (JGCTs), and their occurrence and frequency in these neoplasms is controversial. We aimed to determine the frequency of FOXL2 and DICER1 mutations in a large cohort of 50 JGCTs, and to evaluate the prognostic impact of these mutations.

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Interactive pedagogical tools could be helpful for medical education continuity during COVID-19 outbreak.

Ann Biol Clin (Paris)

August 2020

CHU Lille, Laboratory of biochemistry, biology and pathology center, Lille, France, University of Lille, Faculty of medicine, Lille, France, Inserm, UMR 1172, JPArc, Faculté de médecine, Université de Lille, France.

Training and education are essential for medical students. During the COVID-19 outbreak, numerous schools and universities have had to close. Ensuring pedagogical continuity requires alternatives to the traditional classroom, especially in medical education.

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Background: Extreme leukocytosis is known to induce remarkable variations of some clinical chemistry tests, thus leading to possible clinical misinterpretation. This study aimed to define whether also moderate leukocytosis may influence the stability of glucose and blood gases.

Methods: Blood samples are sent to the local laboratory through a pneumatic tube system.

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Added prognostic value of secondary AML-like gene mutations in ELN intermediate-risk older AML: ALFA-1200 study results.

Blood Adv

May 2020

Department of Hematology, Saint-Louis Institute for Research, Université de Paris, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France.

Article Synopsis
  • The study focused on improving the prognostic predictions for older patients (60+) with acute myeloid leukemia (AML) after undergoing intensive chemotherapy.
  • About 500 patients were analyzed for mutations in 8 specific genes commonly altered in related conditions, revealing that nearly half had mutations linked to a secondary AML-like disease, which indicated worse survival outcomes.
  • The findings suggest that incorporating these genetic mutations into risk assessments could better identify high-risk older patients who would benefit from more aggressive treatments like allogeneic transplantation in their first remission.
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