Assessment of genome mutation analysis for tumor-informed detection of circulating tumor DNA in patients with breast cancer

Clinica Chimica Acta, Journal Year: 2024, Volume and Issue: 561, P. 119818 - 119818

Published: June 14, 2024

Language: Английский

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State of the Art: ctDNA in Upper Gastrointestinal Malignancies

Cancers, Journal Year: 2023, Volume and Issue: 15(5), P. 1379 - 1379

Published: Feb. 21, 2023

Circulating tumor DNA (ctDNA) has emerged as a promising non-invasive source to characterize genetic alterations related the tumor. Upper gastrointestinal cancers, including gastroesophageal adenocarcinoma (GEC), biliary tract cancer (BTC) and pancreatic ductal (PADC) are poor prognostic malignancies, usually diagnosed at advanced stages when no longer amenable surgical resection show prognosis even for resected patients. In this sense, ctDNA tool with different applications, from early diagnosis molecular characterization follow-up of genomic evolution. manuscript, novel advances in field analysis upper tumors presented discussed. Overall, analyses can help diagnosis, outperforming current diagnostic approaches. Detection prior surgery or active treatment is also marker that associates worse survival, while detection after indicative minimal residual disease, anticipating some cases imaging-based progression. setting, landscape identify patients targeted-therapy approaches, studies variable concordance levels tissue-based testing. line, several serves follow responses therapy, especially targeted where it detect multiple resistance mechanisms. Unfortunately, still limited observational. Future prospective multi-center interventional studies, carefully designed assess value clinical decision-making, will shed light on real applicability management. This manuscript presents review evidence available up date.

Language: Английский

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Somatic Copy Number Alteration in Circulating Tumor DNA for Monitoring of Pediatric Patients with Cancer

Biomedicines, Journal Year: 2023, Volume and Issue: 11(4), P. 1082 - 1082

Published: April 3, 2023

Pediatric tumors share few recurrent mutations and are instead characterized by copy number alterations (CNAs). The cell-free DNA (cfDNA) is a prominent source for the detection of cancer-specific biomarkers in plasma. We profiled CNAs tumor tissues further evaluation 1q, MYCN 17p circulating (ctDNA) peripheral blood at diagnosis follow-up using digital PCR. report that among different kinds (neuroblastoma, Wilms tumor, Ewing sarcoma, rhabdomyosarcoma, leiomyosarcoma, osteosarcoma benign teratoma), neuroblastoma presented greatest amount cfDNA, correlation with volume. Considering all tumors, cfDNA levels correlated stage, metastasis developed during therapy. In tissue, least one CNA (at CRABP2, TP53, surrogate markers 1q 17p, respectively, MYCN) was observed 89% patients. At diagnosis, were concordant between ctDNA 56% cases, remaining 44%, 91.4% present only 8.6% tumor. Within we 46% 23% patients had gain, respectively. use specific as targets liquid biopsy pediatric cancer can improve should be considered monitoring disease response.

Language: Английский

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Decoding the Dynamics of Circulating Tumor DNA in Liquid Biopsies

Cancers, Journal Year: 2024, Volume and Issue: 16(13), P. 2432 - 2432

Published: July 1, 2024

Circulating tumor DNA (ctDNA), a fragment of found in the bloodstream, has emerged as revolutionary tool cancer management. This review delves into biology ctDNA, examining release mechanisms, including necrosis, apoptosis, and active secretion, all which offer information about state nature tumor. Comprehensive profiling been enabled by methods such whole genome sequencing methylation analysis. The low abundance ctDNA fraction makes alternative techniques, digital PCR targeted next-generation exome sequencing, more valuable accurate for mutation detection. There are numerous clinical applications analysis, non-invasive liquid biopsies minimal residual disease monitoring to detect recurrence, personalized medicine therapy identification, early detection, real-time evaluation therapeutic response. Integrating analysis routine practice creates promising avenues successful care, from diagnosis treatment follow-up.

Language: Английский

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Circulating tumor DNA mutation analysis: advances in its application for early diagnosis of hepatocellular carcinoma and therapeutic efficacy monitoring

Aging, Journal Year: 2024, Volume and Issue: unknown

Published: July 19, 2024

In recent years, the detection and analysis of circulating tumor DNA (ctDNA) have emerged as a new focus in field cancer research, particularly early diagnosis hepatocellular carcinoma (HCC) monitoring therapeutic efficacy. ctDNA, which refers to cell-free fragments released into bloodstream from cells upon cell death or shedding, carries tumor-specific genetic epigenetic alterations, thereby providing non-invasive approach for prognosis. The concentration ctDNA blood is higher compared that healthy individuals other liquid biopsies early-stage cancers, closely associated with comprehensive sequencing studies HCC. Recent indicated sequential patients receiving primary adjuvant therapy HCC can detect treatment resistance recurrence before visible morphological changes tumor, making it valuable basis rapid adjustment strategies. However, this technology continuously being optimized improved. Challenges such enhancing accuracy tests, reducing burden high-throughput on large number samples, controlling variables assessment relationship between burden, need be addressed. Overall, despite existing challenges, examination opened up avenues efficacy carcinoma, expanding horizons field.

Language: Английский

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