Updates on liquid biopsies in neuroblastoma for treatment response, relapse and recurrence assessment

Jahangiri, Leila

doi:10.1016/j.cancergen.2024.09.001

Cancer Genetics

2024

DOI: 10.1016/j.cancergen.2024.09.001

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Updates on liquid biopsies in neuroblastoma for treatment response, relapse and recurrence assessment

Leila Jahangiri

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2024

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Cited by 2 publications

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Bladder cancer biomarkers: current approaches and future directions

Ahangar,

Mahjoubi,

Mowla

2024

Front. Oncol.

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Bladder cancer is a significant health concern worldwide, necessitating effective diagnostic and monitoring strategies. Biomarkers play a crucial role in the early detection, prognosis, and treatment of this disease. This review explores the current landscape of bladder cancer biomarkers, including FDA-approved molecular biomarkers and emerging ones. FDA-approved molecular biomarkers, such as BTA stat, BTA TRAK, and NMP22, have been instrumental in diagnosing and monitoring bladder cancer. These biomarkers are derived from urinary samples and are particularly useful due to their sensitivity and specificity. As we move forward, we should continue to seek ways to optimize our processes and outcomes, these markers remain seriously challenged in the detection of early bladder cancer due to their limited sensitivity and specificity. For instance, sensitivities of BTA stat in bladder tumor detection have varied between 40-72%, while its specificities vary from 29-96%. In the same way, 70% sensitivity and 80% specificity have been recorded for BTA TRAK, while 11-85.7% sensitivity and 77-100% specificity have been documented for NMP22 BladderChek. The given variations, especially the low sensitivity in the diagnosis of bladder cancer at an early stage call for the invention of better diagnostic systems. Moreover, different sample collection and handling procedures applied in different laboratories further contribute to inconsistent results obtained. Extracellular vesicles (EVs) and exosomes, which carry a vast number of proteins, are being considered as potential biomarkers. Although these markers show promise, challenges remain due to non-standardized isolation techniques and lack of reproducibility across studies. Moreover, the discovery of new potential biomarkers is ongoing. For instance, the UBC® Rapid test and UBC ELISA kit, the XPERT BC Monitor, BC UroMark, TaqMan® Arrays, Soluble FAS (sFAS), Bladder tumor fibronectin (BTF), and IGF2 and MAGE-A3 are among the newest biomarkers under investigation. In conclusion, while bladder cancer biomarkers have shown great promise, more research is needed to standardize the testing procedures and validate these biomarkers in a clinical setting. This will pave the way for more accurate and efficient diagnosis and monitoring of bladder cancer, ultimately improving patient outcomes.

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Bladder cancer biomarkers: current approaches and future directions

Ahangar,

Mahjoubi,

Mowla

2024

Front. Oncol.

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Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort

Ben-Mahmoud,

Gupta,

Abdelaleem

et al. 2024

IJMS

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Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication, restricted interests, and repetitive behaviors. Despite considerable research efforts, the genetic complexity of ASD remains poorly understood, complicating diagnosis and treatment, especially in the Arab population, with its genetic diversity linked to migration, tribal structures, and high consanguinity. To address the scarcity of ASD genetic data in the Middle East, we conducted genome sequencing (GS) on 50 ASD subjects and their unaffected parents. Our analysis revealed 37 single-nucleotide variants from 36 candidate genes and over 200 CGG repeats in the FMR1 gene in one subject. The identified variants were classified as uncertain, likely pathogenic, or pathogenic based on in-silico algorithms and ACMG criteria. Notably, 52% of the identified variants were homozygous, indicating a recessive genetic architecture to ASD in this population. This finding underscores the significant impact of high consanguinity within the Qatari population, which could be utilized in genetic counseling/screening program in Qatar. We also discovered single nucleotide variants in 13 novel genes not previously associated with ASD: ARSF, BAHD1, CHST7, CUL2, FRMPD3, KCNC4, LFNG, RGS4, RNF133, SCRN2, SLC12A8, USP24, and ZNF746. Our investigation categorized the candidate genes into seven groups, highlighting their roles in cognitive development, including the ubiquitin pathway, transcription factors, solute carriers, kinases, glutamate receptors, chromatin remodelers, and ion channels.

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Updates on liquid biopsies in neuroblastoma for treatment response, relapse and recurrence assessment

Cited by 2 publications

References 52 publications

Bladder cancer biomarkers: current approaches and future directions

Bladder cancer biomarkers: current approaches and future directions

Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort

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