Liquid biopsy-based analysis by ddPCR and CAPP-Seq in melanoma patients

Kaneko, Akira; Kanemaru, Hisashi; Kajihara, Ikko; Mijiddorj, Tselmeg; Miyauchi, Hitomi; Kuriyama, Haruka; Kimura, Toshihiro; Sawamura, Soichiro; Makino, Katsunari; Miyashita, Azusa; Aoi, Jun; Makino, Takamitsu; Masuguchi, Shinichi; Fukushima, Satoshi; Ihn, Hironobu

doi:10.1016/j.jdermsci.2021.04.006

Cited by 9 publications

(3 citation statements)

References 31 publications

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“…In metastatic melanoma patients, ctDNA detection promotes the identification of typical mutations (i.e., BRAF and Neuroblastoma RAS Viral Oncogene Homolog (NRAS)) and epigenetic markers such as methylated DNA [ 47 , 87 ]. Indeed, DNA methylation of specific genes, such as Tissue Factor Pathway Inhibitor 2 (TFPI2), has been shown to be correlated with advanced melanoma [ 88 ]. Several studies have shown ctDNA fluctuations in different tumor contexts, such as in pancreatic cancer and BRAF-mutated metastatic melanoma [ 89 , 90 ].…”

Section: Liquid Biopsy (Lb): An Overviewmentioning

confidence: 99%

Metastatic Melanoma: Liquid Biopsy as a New Precision Medicine Approach

Ricciardi

Giordani

Ziccheddu

et al. 2023

IJMS

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Precision medicine has driven a major change in the treatment of many forms of cancer. The discovery that each patient is different and each tumor mass has its own characteristics has shifted the focus of basic and clinical research to the singular individual. Liquid biopsy (LB), in this sense, presents new scenarios in personalized medicine through the study of molecules, factors, and tumor biomarkers in blood such as circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), exosomes and circulating tumor microRNAs (ct-miRNAs). Moreover, its easy application and complete absence of contraindications for the patient make this method applicable in a great many fields. Melanoma, given its highly heterogeneous characteristics, is a cancer form that could significantly benefit from the information linked to liquid biopsy, especially in the treatment management. In this review, we will focus our attention on the latest applications of liquid biopsy in metastatic melanoma and possible developments in the clinical setting.

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Section: Liquid Biopsy (Lb): An Overviewmentioning

confidence: 99%

Metastatic Melanoma: Liquid Biopsy as a New Precision Medicine Approach

Ricciardi

Giordani

Ziccheddu

et al. 2023

IJMS

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“…Multiple small-scale studies have demonstrated a significant correlation between the presence of peri-operative ctDNA detection and inferior survival outcomes in resected melanoma [ 73 , 75 ] in patients with known mutation variants. More recently, tumour-informed ctDNA panels that encompass wide range of patient-specific mutations have also demonstrated that peri-operative detection of patient-customized genomic variants are possible and predictive of patient outcomes [ 76 , 77 ]. One of the most robust reports on the predictive value of ctDNA in resectable melanoma was conducted and reported as part of the CheckMate 915 study translational analysis.…”

Section: Circulating Tumour Dna In Melanomamentioning

confidence: 99%

Promising and Minimally Invasive Biomarkers: Targeting Melanoma

Spiliopoulou,

Holanda Lopes,

Spreafico

2023

Cells

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The therapeutic landscape of malignant melanoma has been radically reformed in recent years, with novel treatments emerging in both the field of cancer immunotherapy and signalling pathway inhibition. Large-scale tumour genomic characterization has accurately classified malignant melanoma into four different genomic subtypes so far. Despite this, only somatic mutations in BRAF oncogene, as assessed in tumour biopsies, has so far become a validated predictive biomarker of treatment with small molecule inhibitors. The biology of tumour evolution and heterogeneity has uncovered the current limitations associated with decoding genomic drivers based only on a single-site tumour biopsy. There is an urgent need to develop minimally invasive biomarkers that accurately reflect the real-time evolution of melanoma and that allow for streamlined collection, analysis, and interpretation. These will enable us to face challenges with tumour tissue attainment and process and will fulfil the vision of utilizing “liquid biopsy” to guide clinical decisions, in a manner akin to how it is used in the management of haematological malignancies. In this review, we will summarize the most recent published evidence on the role of minimally invasive biomarkers in melanoma, commenting on their future potential to lead to practice-changing discoveries.

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“…The levels of ctDNA [BRAF (V600E), BRAF (V600K), or NRAS (Q61H)] decrease when there is a response to targeted therapy and increase as the disease progresses [ 36 ]. Moreover, when melanoma patients become resistant to BRAF/MEK inhibitors, increased copy numbers of MET mutations is detected in the ctDNA [ 37 ].…”

Section: Liquid Biopsymentioning

confidence: 99%

Clinical features, molecular pathology, and immune microenvironmental characteristics of acral melanoma

Gui

Zhang

2022

J Transl Med

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Acral melanoma (AM) has unique biology as an aggressive subtype of melanoma. It is a common subtype of melanoma in races with darker skin tones usually diagnosed at a later stage, thereby presenting a worse prognosis compared to cutaneous melanoma. The pathogenesis of acral melanoma differs from cutaneous melanoma, and trauma promotes its development. Compared to cutaneous melanomas, acral melanomas have a significantly lighter mutational burden with more copy number variants. Most acral melanomas are classified as triple wild-type. In contrast to cutaneous melanomas, acral melanomas have a suppressive immune microenvironment. Herein, we reviewed the clinical features, genetic variants, and immune microenvironmental characteristics of limbic melanomas to summarise their unique features.

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Liquid biopsy-based analysis by ddPCR and CAPP-Seq in melanoma patients

Cited by 9 publications

References 31 publications

Metastatic Melanoma: Liquid Biopsy as a New Precision Medicine Approach

Metastatic Melanoma: Liquid Biopsy as a New Precision Medicine Approach

Promising and Minimally Invasive Biomarkers: Targeting Melanoma

Clinical features, molecular pathology, and immune microenvironmental characteristics of acral melanoma

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