Catalogue Search | MBRL
Are you sure you want to remove the book from the shelf?
{{itemTitle}}
23,116
result(s) for
"molecular testing"
Sort by:
Healing roots : anthropology in life and medicine
\"Umhlonyane, also known as Artemisia afra, is one of the oldest and best-documented indigenous medicines in South Africa. This bush, which grows wild throughout the sub-Saharan region, smells and tastes like \"medicine,\" thus easily making its way into people's lives and becoming the choice of everyday healing for Xhosa healer-diviners and Rastafarian herbalists. This 'natural' remedy has recently sparked curiosity as scientists search for new molecules against a tuberculosis pandemic while hoping to recognize indigenous medicine. Laplante follows umhlonyane on its trails and trials of becoming a biopharmaceutical -- from the \"open air\" to controlled environments -- learning from the plant and from the people who use it with hopes in healing.\"-- Provided by publisher.
Book
Immunohistochemistry Innovations for Diagnosis and Tissue-Based Biomarker Detection
Purpose of ReviewImmunohistochemistry is an integral technique for tissue-based diagnostics and biomarker detection with broad worldwide adoption. Advances in core chemistries, antibody design, and automation have ushered unprecedented sensitivity, specificity, and reproducibility in immunohistochemistry assays. As a result, clinical immunohistochemistry assays that utilize dual-color approaches and mutation-specific antibodies provide novel tools in clinical diagnostics that until recently were in the realm of investigational research. This review provides an overview of innovations in clinical immunohistochemistry assays with emphasis on those used for patients with hematopoietic neoplasms.Recent FindingsAdvances in clinical-grade immunohistochemistry techniques have allowed labs to develop and validate multiplex assays that improve diagnostic utility—such as CD5/PAX5 and TCF4/CD123 dual-color stains—and have the potential to enhance the specificity of biomarker detection. In addition, the increased availability of immunohistochemistry assays that detect mutant proteins (e.g., BRAF V600E and IDH1 R132H) provides a helpful replacement and/or adjunct for molecular testing. These techniques are highly reproducible, entail reasonable technical and interpretation complexity, and are relatively cost-effective, making them valuable novel tools in modern cancer care.SummaryMultiplex and mutation-specific immunohistochemistry assays represent important innovations that provide improved utility in the context of personalized medicine and targeted therapy.
Journal Article
Molecular Mechanisms of Resistance to Tyrosine Kinase Inhibitors
Purpose of ReviewChronic myeloid leukemia (CML) patients with constitutive activity of BCR-ABL1 oncoprotein frequently derive significant clinical benefits from tyrosine kinase inhibitors (TKIs). Point mutations in the ABL1 kinase domain (KD) are an important mechanism of TKI resistance in CML. In this review, we present molecular mechanisms of TKI resistance paying particular attention to drug resistance which allows for a survival advantage in CML.Recent FindingsSensitive disease monitoring is a required standard of care for management of CML. Screening of these mutations fail to explain 20–40% of resistant cases where activation of different survival pathways must be the main reason for resistance.SummaryEliminating TKI resistance appears to be the most successful therapeutic way to decrease leukemic disease burden and potentiate cure. Advances on novel strategies for identifying and confronting drug resistance are rapidly altering management of CML that are resistant to TKI and expanding the landscape of available therapies.
Journal Article
The Main Molecular and Serological Methods for Diagnosing COVID-19: An Overview Based on the Literature
Diagnostic tests have been considered as the main alternative for the control of coronavirus disease (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), as a correct diagnosis allows for decision making when facing the disease, particularly as there is a lack of effective therapeutic protocols and vaccines. Thus, in this review, we summarized the main diagnostic approaches currently available for the diagnosis of SARS-CoV-2 infection in humans based on studies available in article databases. The tests can be organized into two main categories: nucleic acid-based tests, recommended for the initial detection of the virus, and serological tests, recommended for assessing the disease progression. The studies have shown that the performance of diagnostic methods depends on different factors, such as the type of samples and the characteristics of each assay. It was identified that the positivity of the tests is mainly related to the onset of symptoms. We also observed that point-of-care diagnoses are considered as one of the main trends in this area, due to the low-cost and simplicity of the assay; however, the analytical performance must be critically analyzed. Thus, the COVID-19 pandemic has highlighted the critical role of diagnostic technologies in the control of infectious diseases.
Journal Article
PD-1/PD-L1 Pathway and Its Blockade in Patients with Classic Hodgkin Lymphoma and Non-Hodgkin Large-Cell Lymphomas
Purpose of ReviewProgrammed cell death protein-1 (PD-1) is currently the most extensively studied inhibitory checkpoint molecule. Many malignant neoplasms express the PD-1 ligands, PD-L1, and/or PD-L2, which bind to PD-1 on T cells and induce T cell “exhaustion.” By doing so, the malignant cells escape from an antitumor immune response (immune evasion). Blockade of the PD-1/PD-L1 pathway releases T cells from the inhibitory effects exerted by tumor cells and restores a T cell-mediated antitumor immune response. Here, we focus on understanding the immune biology of the PD-1/PD-L1 pathway in large-cell lymphomas, including classic Hodgkin lymphoma (CHL), diffuse large B cell lymphoma (DLBCL), and anaplastic large-cell lymphoma (ALCL), and the current status of PD-1 blockade immunotherapy in treating patients with these lymphomas.Recent FindingsPD-1/PD-L1 pathway and PD-1 inhibitors have been widely tested in patients with a variety of lymphomas. Nivolumab and pembrolizumab have been approved by the U.S. Food and Drug Administration for treating patients with some types of relapsed or refractory (R/R) lymphomas. The highest response rate has been achieved in patients with CHL, due to a high frequency of genetic alterations of 9p24.1 and high expression of PD-1 ligands. The frequency of alterations of chromosome 9p24.1 and expression of PD-L1/PD-L1 in DLBCL (except some specific subtypes) is low; therefore, it is not recommended to treat unselected DLBCL patients with PD-1 inhibitors. Studies have shown a high frequency of PD-L1 expression in ALCL, especially in anaplastic lymphoma kinase (ALK)+ type. Several cases reports have described a dramatic and durable response to PD-1 blockade in patients with R/R ALCL, suggesting that patients with R/R ALCL may be potential candidates for PD-1 blockade immunotherapy.SummaryUnderstanding the immune biology of lymphoid neoplasms has helped us identify the specific lymphoma types that are vulnerable to PD-1 inhibitors, such as CHL, and specific subtypes of DLBCL. However, our knowledge of many other lymphomas, including ALCL, in this area is still very limited and the future of PD-1 inhibitors in treating those lymphomas remains unclear.
Journal Article
Acute Myeloid Leukemia: from Mutation Profiling to Treatment Decisions
Purpose of ReviewAwareness of the molecular landscape of AML has improved AML care over the last 5 years. This review summarizes updates regarding the diagnostic and therapeutic relevance of key mutations in AML.Recent FindingsMolecular mutations in genes including NPM1, CEBPA, FLT3, IDH1/2, TP53, RUNX1, and ASXL1 provide important prognostic and/or therapeutic information in AML, including best treatment strategies, transplant recommendations, and significance of MRD detection. Mutational analysis has led to the recognition of new entities including hereditary leukemia syndromes and clonal hematopoiesis of indeterminate potential (CHIP). FLT3 and IDH1/2 mutations are the focus of targeted therapies in the treatment of AML.SummaryAdvances in the molecular characterization of AML have provided an improved understanding of leukemogenesis and AML risk stratification, improved disease monitoring techniques, optimized therapeutic strategies, and have led to the development of novel molecular-targeted therapeutics. Ongoing genomic advances will continue to improve upon the outcome of patients with AML.
Journal Article
Chronic Myeloid Leukemia: Beyond BCR-ABL1
Purpose of reviewIn this review, we emphasize up-to-date practical cytogenetic and molecular aspects of chronic myeloid leukemia (CML) and summarize current knowledge on tyrosine kinase inhibitor (TKI) resistance and treatment response monitoring of CML.Recent findingsThe introduction of TKIs has changed the natural course of CML and markedly improved patient survival. Over the past decades, many research efforts were devoted to elucidating the leukemogenic mechanisms of BCR-ABL1 and developing novel TKIs. More recent studies have attempted to answer new questions that have emerged in the TKI era, such as the cytogenetic and molecular bases of treatment failure and disease progression, the clinical impact of genetic aberrations in Philadelphia chromosome (Ph)-positive and Ph-negative cells, and the biological significance of Ph secondarily acquired during therapy of other hematological neoplasms.SummaryRecent progresses in the understanding of the cytogenetic and molecular mechanisms underlying therapeutic failure and disease progression have improved the risk stratification of CML and will be helpful in the design of novel therapeutic strategies.
Journal Article
Blastic Plasmacytoid Dendritic Cell Neoplasm
Purpose of ReviewBlastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare malignancy derived from plasmacyoid dendritic cells whose biology, clinical features, and treatment options are increasingly better understood.Recent FindingsTCF4 is a master regulator that drives donwstream transcriptional programs in BPDCN. In turn, TCF4 activity is dependent on the bromodomain and extra-terminal domain (BET) protein BRD4 whose inhibition provides a promising therapeutic vulnerability. Notably, TCF4 expression is a highly sensitive marker for BPDCN and augments diagnostic specificity alongside CD4, CD56, CD123, and TCL1. The gene expression profile of BPDCN is characterized by aberrant NF-kappaB pathway activation, while its genomic landscape is dominated by structural chromosomal alterations involving ETV6, MYC, and NR3C1, as well as mutations in epigenetic regulators particularly TET2.SummaryAdvances in elucidating the biological characteristics of BPDCN are resulting in a more refined diagnostic approach and are opening novel therapeutic avenues for patients with this disease.
Journal Article
Racial disparities in outcomes for high‐grade uterine cancer: A California cancer registry study
Background Endometrial cancer (EC) is the most common gynecologic malignancy. We examined factors affecting overall prognosis and survival among different racial groups diagnosed with high‐grade EC. Methods We utilized the California Cancer Registry database (CCR) to identify women with high‐grade II EC from 1998 to 2009. Using the Kaplan‐Meier method, we described disease‐specific survival. Survival by stage, race, and time to treatment category was compared using the log‐rank test. The associations of race with disease‐specific survival were modeled using Cox proportional hazards regression. Covariates were selected a priori. Results A total of 10 647 patients met study eligibility criteria. The majority of patients in this cohort of high‐grade EC were non‐Hispanic (NH) white (64.1%), followed by Hispanic (15.7%), Asian (10.4%), and NH black (9.8%). NH black women had higher incidence of certain aggressive histologic subtypes in comparison with NH whites, including serous carcinomas and carcinosarcoma. Non‐Hispanic black patients had a worse 5‐year disease‐specific survival (DSS) when compared to other racial groups. The five‐year DSS for NH black women was 54% (51%‐57%), compared to NH white women 66% (65%‐67%), Hispanic 67% (64%‐69%), and Asians 69% (67%‐72%) (P < 0.0001). This clear survival disadvantage of NH black women persisted when controlling for other factors. Conclusions Non‐Hispanic black women have a higher incidence of more aggressive histologic subtypes even among a cohort of women high‐grade EC and have a disproportionately worse disease‐specific survival after controlling for factors such as age, histologic subtype, stage, time to treatment, and type of treatment. We utilized the California Cancer Registry database to identify women with high‐grade endometrial cancer (EC) from 1998 to 2009. Using the Kaplan‐Meier method, we described disease‐specific survival. Non‐Hispanic black women have a higher incidence of more aggressive histologic subtypes even among a cohort of women with high‐grade EC and have a disproportionately worse disease‐specific survival after controlling for factors such as age, histologic subtype, stage, time to treatment, and type of treatment.
Journal Article
The Emerging Role of Hematopathologists and Molecular Pathologists in Detection, Monitoring, and Management of Myeloid Neoplasms with Germline Predisposition
Purpose of ReviewAwareness, widespread availability, and routine use of sequencing techniques in work-up of myelodysplastic syndromes and acute myeloid leukemia have facilitated increased recognition of these entities arising in a background of germline predisposition disorders (GPD).Recent FindingsThe latest revisions to the WHO classification of myeloid neoplasms incorporate “myeloid neoplasms with germline predisposition” as a separate entity due to the therapeutic implications of this diagnosis. It has become apparent that some of these entities have unique recognizable morphologic findings that can be challenging to interpret at time. Hence, much needs to be studied, posing a new layer of complexity to hematopathologists and oncologists. A thorough understanding of cytogenetic and molecular findings during disease evolution is essential.SummaryConsequently, hematopathologists and molecular pathologists play an increasing role in recognition of bone marrow morphologic features that help in recognition of underlying GPD, monitoring, and prompt identification of progression.
Journal Article