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Liquid Biopsies in Malignant Melanoma: From Bench to Bedside

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Part of the book series: Current Clinical Pathology ((CCPATH))

Abstract

Malignant melanoma is a malignant tumour originated from melanocytic cells and primarily involves the skin. However, it can also arise from the extracutaneous melanocytes located in the eye and mucosal surfaces. An increasing incidence of cutaneous melanoma in white population has been observed during the last decades. In Europe, the incidence is 10–15 new cases per 100,000 subjects annually and in the USA rises up to 18 cases per 100,000 inhabitants. However, the highest incidence has been reported in Australian and New Zealand population, with 40–60 cases per 100,000 inhabitants annually.

The current therapeutic armamentarium against malignant melanoma has recently incorporated new standards of care through the development of targeted therapies and new immunotherapy approaches. Tumour biomarkers are valuable tools to significantly improve treatment efficacy and minimize the cost by selecting the right treatment for the proper patient.

In this new scenario, serological tumour markers should be reviewed. Among them, potential circulating biomarkers such as cell-free DNA, exosomes, microRNA and circulating tumour cells have been identified.

In this chapter, we will summarize classical and emerging tumour markers of clinical value in malignant melanoma and discuss their potential applicability in the selection and monitoring of emerging targeted therapeutics.

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Abbreviations

APP:

Amyloid-beta precursor protein

BEAMing:

Beads, emulsions, amplification and magnetics

Bp:

Base pairs

BRAF:

B-Raf proto-oncogene, serine/threonine kinase

CD 125:

Cluster differentiation 125

CDKN2a:

Cyclin-dependent kinase inhibitor 2A

CDK4:

Cyclin-dependent kinase 4

ctDNA:

Cell-free circulating tumour DNA

CTCs:

Circulating tumour cells

CTLA-4:

Cytotoxic T lymphocyte-associated antigen 4

DFS:

Disease-free survival

FDA:

Food and drug administration

HGF:

Hepatocyte growth factor

HGFR/MET:

Hepatocyte growth factor receptor

HR:

Hazard ratio

IFN-α:

Interferon alpha

IGF-1R:

Insulin-like growth factor 1 receptor

LDH:

Lactate dehydrogenase

MAPK:

Mitogen-activated protein kinase

MEK:

MAP kinase-ERK kinase

MGMT:

O6-Methylguanine-DNA methyltransferase

MITF:

Microphthalmia transcription factor

NK:

Natural killer

NRAS:

Neuroblastoma RAS viral (v-ras) oncogene homolog

OS:

Overall survival

PCR:

Polymerase chain reaction

PD1:

Programmed cell death protein 1

PDGFR-β:

Beta-type platelet-derived growth factor receptor

PDL-1:

Programmed death-ligand 1

PFS:

Progression-free survival

PI3K:

Phosphatidylinositol 3-kinase

PIP2:

Phosphatidylinositol 4,5-biphosphate

PIP3:

Phosphatidylinositol 3,4,5-triphosphate

PTEN:

Phosphatase and tensin homolog

qPCR:

Quantitative polymerase chain reaction

RAR-β:

Retinoic acid receptor beta

RASSF1:

Ras association (RalGDS/AF-6) domain family member 1

RECIST:

Response evaluation criteria in solid tumours

RTK:

Receptor tyrosine kinases

SCF:

Stem cell factor

SOCS1:

Suppressor of cytokine signalling 1

SOCS2:

Suppressor of cytokine signalling 2

TILs:

Tumour-infiltrating lymphocytes

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Alegre, E., Zubiri, L., Fusco, J.P., Ramírez, N., González, Á., Gil-Bazo, I. (2017). Liquid Biopsies in Malignant Melanoma: From Bench to Bedside. In: Russo, A., Giordano, A., Rolfo, C. (eds) Liquid Biopsy in Cancer Patients. Current Clinical Pathology. Humana Press, Cham. https://doi.org/10.1007/978-3-319-55661-1_17

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