Pyrophosphorolysis-Activated Polymerization Detects Circulating Tumor DNA in Metastatic Uveal Melanoma

Madic, Jordan; Piperno‐Neumann, Sophie; Servois, Vincent; Rampanou, Aurore; Milder, Maud; Trouiller, Bénédicte; Gentien, David; Saada, Stéphanie; Assayag, Franck; Thuleau, Aurélie; Némati, Fariba; Decaudin, Didier; Bidard, François-Clément; Desjardins, Laurence; Mariani, Pascale; Lantz, Olivier; Stern, Marc‐Henri

doi:10.1158/1078-0432.ccr-12-0309

Cited by 80 publications

(79 citation statements)

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“…The tumor volume at the time of blood analysis was obtained by summing the individual volume of every metastasis, as measured by magnetic resonance imaging (for liver lesions) and=or scanner (for other lesions) by an expert radiologist (VS), as previously reported. 20 Miliary hepatic metastasis was defined as the presence of at least ten liver metastases with a diameter of 5 mm; this feature is frequently seen in uveal melanoma and can be associated with liver macrometastases (>5 mm). 21 Other patient characteristics and survival data were prospectively registered.…”

Section: Patientsmentioning

confidence: 99%

“…DNA was extracted using the QIAamp circulating nucleic acid kit (Qiagen, Courtaboeuf, France) according to the manufacturer's instructions. Primers used in our study have been described by Madic et al 20 DNA was extracted from 5 mL plasma and eluted in a final volume of 36 mL. Bi-PAP PCR assays were performed on 10 mL DNA in three independent experiments.…”

Section: What's New?mentioning

confidence: 99%

“…The PCR was done in a total volume of 25 mL including DNA sample, 1 U KlenTaq-S (Scientech Corp, Chesterfield, MO), 13 KlenTaq-S buffer, 8% (v=v) dimethyl sulfoxide, 25 mM of each dNTP, 1 mM dithiothreitol, 0.13 ROX calibration dye, 0.23 SYBR Green I dye (Life Technologies, Saint Aubain, France) and optimized concentrations of primers as described. 20 The sensitivity and the specificity of the assays were controlled on each plate by using serial dilutions of tumor DNA in normal DNA including ten replicates of mixtures containing one genome equivalent (GE) of the targeted genes and six replicates of 10 4 GE of normal DNA, respectively. High and low copy number controls were also used in every experiment to control for interexperiment variability.…”

Section: What's New?mentioning

confidence: 99%

“…Patient characteristics and outcome were prospectively collected. CTCs (1) were detected in 12 of the 40 included patients (30%, range [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]. Among the 26 patients with known detectable mutations, ctDNA was detected and quantified in 22 (84%, range 4-11,421 copies=mL).…”

mentioning

confidence: 99%

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Detection rate and prognostic value of circulating tumor cells and circulating tumor DNA in metastatic uveal melanoma

Bidard

Madic

Mariani

et al. 2013

Intl Journal of Cancer

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164

154

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Circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) have been recently investigated in several cancer types, but their respective clinical significance remains to be determined. In our prospective study, we compared the detection rate and the prognostic value of these two circulating biomarkers in patients with metastatic uveal melanoma. GNAQ=GNA11 mutations were characterized in archived tumor tissue. Using a highly sensitive and mutation-specific bidirectional pyrophosphorolysisactivated polymerization (bi-PAP) technique, GNAQ c.626A>T, GNAQ c.626A>C and GNA11 c.626A>T copy numbers were quantified in plasma from 12 mL of blood. CTCs were detected at the same time in 7.5 mL of blood by the CellSearchV R technique. Patient characteristics and outcome were prospectively collected. CTCs (1) were detected in 12 of the 40 included patients (30%, range 1-20). Among the 26 patients with known detectable mutations, ctDNA was detected and quantified in 22 (84%, range 4-11,421 copies=mL). CTC count and ctDNA levels were associated with the presence of miliary hepatic metastasis (p 5 0.004 and 0.03, respectively), with metastasis volume (p 5 0.005 and 0.004) and with each other (p < 0.0001). CTC count and ctDNA levels were both strongly associated with progression-free survival (p 5 0.003 and 0.001) and overall survival (p 5 0.0009 and <0.0001). In multivariate analyses, ctDNA appeared to be a better prognostic marker than CTC. In conclusion, ctDNA and CTC are correlated and both have poor prognostic significance. CTC detection can be performed in every patient but, in patients with detectable mutations, ctDNA was more frequently detected than CTC and has possibly more prognostic value.Uveal melanoma is a rare cancer, with a reported incidence of two to eight new cases per million per year in Europe 1 and the United States.2 Specific mutations are found in this particular type of melanoma: >80% of uveal melanoma express mutually exclusive somatic mutations in two paralog proto-oncogenes, GNAQ 3 and GNA11, 4 which encode a-subunits of heterotrimeric G-proteins involved in the MEK-ERK signaling pathway. 5 In both genes, most mutations occur at nucleotide 626 encoding a glutamine at codon 209 (Q209). The presence of these mutations does not influence the risk of metastasis in patients. 4 Uveal melanoma metastases develop mostly in the liver through hematogenous spread of cancer cells. Despite improvement of diagnosis and treatment of the primary eye tumor, there is no effective treatment of metastatic disease; the prognosis of patients with metastatic uveal melanoma is limited, and although a few patients experience extended survival, the median overall survival (OS) following metastases detection is less than 1 year. 6 Circulating tumor cells (CTCs), which are cancer cells detected in patient blood, may correspond to cancer "seeds" that initiate metastatic relapse.7 Over the past two decades, both molecular and cytological detection techniques have

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Section: Patientsmentioning

confidence: 99%

Section: What's New?mentioning

confidence: 99%

Section: What's New?mentioning

confidence: 99%

mentioning

confidence: 99%

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Detection rate and prognostic value of circulating tumor cells and circulating tumor DNA in metastatic uveal melanoma

Bidard

Madic

Mariani

et al. 2013

Intl Journal of Cancer

Self Cite

164

154

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“…In einem direkten Vergleich zwischen dem Therascreen ARMS assay(Qiagen)-einvonderFDA zugelassener diagnostischer Test für die Detektion von EGFR-und KRAS-Mutationen aus FFPE-Material -und der castPCR (Life Technologies) für KRAS, erreichte die castPCR eine vergleichbar gute Sensitivität und Spezifität [32]. Eine ganze Reihe von ähnlichen, etwas exotischeren Anwendungen wurde bereits publiziert, allerdings hat bisher keine davon eine breite Anwendung gefunden [33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48].…”

Section: Hintergrundunclassified

Neueste technologische Entwicklungen für die Analyse von zirkulierender Tumor-DNA

Ulz

Geigl

Speicher

et al. 2016

Medizinische Genetik

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Zusammenfassung Die Analyse von zirkulierender Tumor-DNA, zusammen mit der Analyse von zirkulierenden Tumorzellen auch oft Liquid Biopsy genannt, ist ein sich rasch entwickelndes Feld in der medizinischen Forschung. Obwohl es von der Entdeckung der zellfreien DNA bis hin zur Erkenntnis, dass sie sich als Biomarker eignet, Jahrzehnte gedauert hat, wurde der klinische Nutzen der ctDNA hinsichtlich der Überwachung des Therapieansprechens, der Identifizierung von Resistenzmechanismen und neu aufkommenden Therapiezielen sowie der Detektion von minimaler Resterkrankung mittlerweile in unzähligen Studien bewiesen. Aufgrund der hohen Variabilität, mit der ctDNA in der Zirkulation vorkommt, sowie der starken Fragmentierung, stellt die ctDNA aber einen schwierigen Analyten dar. In den letzten Jahren haben erhebliche technologische Fortschritte dazu beigetragen, dass eine Routineanwendung der ctDNA-Analysen tatsächlich realisierbar wird, sofern eine Reihe von regulatorischen Hürden überwunden wird.

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MBene Nanosheets with DNA Adsorbability for Circulating Tumor DNA Assay via Fluorescence Biosensing and Paper‐Based Microfluidic POCT

Yang,

Zhu,

Zhao

et al. 2024

Adv Funct Materials

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The detection of circulating tumor DNA (ctDNA) in blood is significant for non‐invasive cancer diagnosis and treatment monitoring. Herein, MBene nanosheets is synthesized and compared with MXene via Density Functional Theory (DFT) calculations and fluorescence kinetic evaluations, for first time, revealing MBene's exceptional DNA adsorbability and discrimination to single‐stranded DNA (ssDNA) and double‐stranded DNA (dsDNA). Then, a sensitive fluorescence biosensor for ctDNA detection is developed, demonstrating impressive performance. To facilitate point‐of‐care testing (POCT) ctDNA, a paper‐based microfluidic chip incorporated a delay area and a mixing channel is designed. The constricted‐expanded structure channel optimization is guided by numerical simulations and experiments. A WeChat mini program named “ctDNA Detection” is designed for readout assay. Furthermore, cell and mice serum samples are analyzed, with Magnetic Bead@Graphene Oxide (MB@GO) and clutch probes for magnetic pre‐enrichment. The results accuracy is confirmed by its consistency with standard qPCR results (AUC = 1). The successful detection of ctDNA in post‐surgery mouse models underscored the biosensor's potential for cancer treatment monitoring. Thus, this research not only advanced the understanding of the MBene‐DNA interaction in biosensing, but also can pave the way for novel applications in bioimaging and nanopore‐based nucleic acid sequencing, leveraging the digital transformation of DNA base‐MBene adsorption differences.

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Pyrophosphorolysis-Activated Polymerization Detects Circulating Tumor DNA in Metastatic Uveal Melanoma

Cited by 80 publications

References 28 publications

Detection rate and prognostic value of circulating tumor cells and circulating tumor DNA in metastatic uveal melanoma

Detection rate and prognostic value of circulating tumor cells and circulating tumor DNA in metastatic uveal melanoma

Neueste technologische Entwicklungen für die Analyse von zirkulierender Tumor-DNA

MBene Nanosheets with DNA Adsorbability for Circulating Tumor DNA Assay via Fluorescence Biosensing and Paper‐Based Microfluidic POCT

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