Publications by authors named "Thanh-Xuan Jasmine"

Background: Non-invasive multi-cancer early detection (MCED) tests have shown promise in enhancing early cancer detection. However, their clinical utility across diverse populations remains underexplored, limiting their routine implementation. This study aims to validate the clinical utility of a multimodal non-invasive circulating tumor DNA (ctDNA)-based MCED test, SPOT-MAS (Screening for the Presence Of Tumor by DNA Methylation And Size).

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The emergence of multicancer early detection (MCED) tests holds promise for improving early cancer detection and public health outcomes. However, positive MCED test results require confirmation through recommended cancer diagnostic imaging modalities. To address these challenges, we have developed a consultation and work-up protocol for definitive diagnostic results post MCED testing, named SPOT-MAS.

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Article Synopsis
  • The study introduces a new assay called SPOT-MAS that combines multiple analysis techniques to detect different types of cancer using circulating tumor DNA (ctDNA).
  • SPOT-MAS was tested on a large group of 738 patients with various cancers and 1550 healthy controls, successfully identifying cancers with a sensitivity of 72.4% and high specificity.
  • The assay performs well for early-stage cancers and shows promise for being more cost-effective compared to other ctDNA tests due to its lower sequencing depth requirements.
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  • Breast cancer is a leading cause of cancer-related death among women in the US, with current screening methods often hindered by high false positive rates.
  • Researchers developed a new approach called SPOT-MAS, analyzing cell free DNA from 239 breast cancer patients and 278 healthy individuals.
  • The study revealed that combining different DNA signatures significantly improved detection accuracy for early-stage breast cancer, achieving a high AUC of 0.91, with 65% sensitivity at 96% specificity.
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  • The SPOT-MAS assay detects five common cancers in Vietnam by analyzing circulating tumor DNA in blood samples.
  • It was validated in the K-DETEK clinical trial involving 2,795 participants across 14 sites, showing a 60% positive predictive value and 83.3% accuracy in identifying tumor locations.
  • The study suggests that SPOT-MAS can be used as a complementary method for early cancer detection, potentially leading to timely treatment opportunities.
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Background: Hereditary cancer syndromes (HCS) are responsible for 5-10% of cancer cases. Genetic testing to identify pathogenic variants associated with cancer predisposition has not been routinely available in Vietnam. Consequently, the prevalence and genetic landscape of HCS remain unknown.

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Pena-Shokeir phenotype is a lethal anomaly characterized by neurogenic arthrogryposis, craniofacial anomalies, and pulmonary hypoplasia. This syndrome should be distinguished from trisomy 18 and arthrogryposis multiplex congenita for better counseling and establishing fetal prognosis. We present the case of a pregnant woman diagnosed with a Pena-Shokeir phenotype affected fetus at 24 weeks of gestation.

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