Explanation of Frequently Used Terms



Analyte The substance that is to be used in the analysis/test/assay
Antibody A protein made by white blood cells in response to an antigen (a toxin or foreign substance). Each antibody can bind to only one specific antigen. The purpose of this binding is to help destroy the antigen
Antigen Proteins that can be used as markers in laboratory tests to identify cancerous and normal tissues or cells
AR-V7 The androgen receptor (AR) has been proposed as a mechanism of therapeutic resistance to AR signalling (ARS) inhibitors. Androgen receptor variant 7 (AR-V7) participates in regulating prostate cancer cell proliferation and gene expression and is correlated with drug resistance. Patients with low-risk disease should receive taxanes if they are AR-V7+ or ARS inhibitors if they are AR-V7–
AUC-ROC The area under the curve (AUC) for a receiver operating characteristic (ROC) plot, a plot of 1-specificity on the x-axis vs. the sensitivity on the y-axis at each possible threshold for a test’s results, is a measure of a diagnostic test’s accuracy. The accuracy of the test depends on how well the test separates the two groups being compared into those with the outcome (sensitivity) and those without the outcome (specificity) in question. An AUC of 1 (100%) represents a perfect test while an AUC of 0.5 (50%) represents a worthless test. The traditional academic classification system for AUC-ROCs is 90% to 100% = excellent; 80% to 90% = good; 70% to 80% = fair; 60% to 70% = poor; 50% to 60% = fail. Source: University of Cambridge MRC Unit www.imaging.mrc-cbu.cam.ac.uk/statswiki/FAQ/roc
Benign Not cancerous. Benign tumours may grow larger but do not spread to other parts of the body. Also called non-malignant
Biomarker A biological molecule found in blood, other body fluids, or tissues that is a sign of a normal or abnormal process, or of a condition or disease. A biomarker may be used to see how a disease is developing or how well the body responds to a treatment for a disease or condition. Also called molecular marker and signature molecule
Biopsy Process by which cancer cells are removed from the tumour for analysis
Cancer A term for diseases in which abnormal cells divide without control and can invade nearby tissues. Cancer cells can also spread to other parts of the body through the blood and lymph systems
Capture Process for capturing target cells from sample
Capture efficiency Proportion of target cells captured
Carcinogen Any substance that is directly involved in causing cancer
CD45 The CD45 antibody recognises the human CD45 antigen, also known as the leukocyte common antigen. WBC are CD45+ whereas CTCs are CD45-. Staining with CD45 often used as a negative confirmation that CTCs are not WBC
Cell(s) In biology, the smallest unit that can live on its own and that makes up all living organisms and the tissues of the body. The human body has more than 30 trillion cells
Cell culture See cultured cells
Cell-free DNA Genomic DNA found in the plasma 
Cell labelling Technique involving the staining of target cells with fluorescent and/or chromogenic markers for cell identification
Cell lines  Cultured cells 
CE Mark Regulatory authorisation for the marketing and sale of products for clinical use in the European Union. The CE marking is the manufacturer’s declaration, following appropriate assessment by a CE Notified Body, that the product meets the requirements of the applicable EC directives
Chemotherapy The treatment of cancer by chemicals (drugs). In cancer care the term usually means treatment with drugs that destroy cancer cells or stop them from growing
Circulating tumour cell Cancer cell that has detached from a tumour and is circulating in the patient’s blood
Circulating tumour DNA Circulating tumour DNA (ctDNA) is tumour-derived fragmented DNA in the bloodstream that has been released by dead/dying tumour cells
CLIA Laboratory The Clinical Laboratory Improvement Amendments (CLIA) of 1988 are federal regulatory standards that apply to all clinical laboratory testing performed on humans in the United States (with the exception of clinical trials and basic research). A clinical laboratory is defined by CLIA as any facility which performs laboratory testing on specimens obtained from humans for the purpose of providing information for health assessment and for the diagnosis, prevention, or treatment of disease
Clinical application Use in treating patients
Clinical samples Patient samples usually blood
Clinical study A type of research study that tests how well new medical approaches work in people. These studies test new methods of screening, prevention, diagnosis, or treatment of a disease
Clinical use Use in treating patients
Companion diagnostic A medical device which provides information that is essential for the safe and effective use of a corresponding drug or biological product
Contract Research Organisation (CRO) A company hired by another company or research centre to take over certain parts of running a clinical trial. The company may design, manage, and monitor the trial, and analyse the results. Also abbreviated as CRO
CTC Circulating tumour cell
CTC labelling CTCs are often labelled with three markers and are formally identified as CTCs if they are CK+, CD45-, DAPI+
ctDNA or cfDNA Abbreviation for circulating tumour DNA also known as cell-free DNA
CT scan A procedure that uses a computer linked to an x-ray machine to make a series of detailed pictures of areas inside the body. The pictures are taken from different angles and are used to create 3-dimensional views of tissues and organs
Cultured cells Cultured cells grown in the laboratory from human-derived cells used for experimental work
Cytokeratin Cytokeratins are a family of intracytoplasmic cytoskeleton proteins with members showing tissue specific expression
CK Cytokeratin
CK+ A cell positive for the presence of cytokeratin protein or mRNA with the presence of distinct cytokeratins often used to identify epithelial cells 
Cytopathological A branch of pathology that studies and diagnoses diseases at the cellular level, generally used on samples of free cells or tissue fragments
DAPI A nuclear stain that is often used to identify the nucleus in a cell
DEPArrayTM A commercial single cell isolation system
Diagnosis The process of identifying a disease, condition, or injury from its signs and symptoms. A health history, physical examination and tests, such as blood tests, imaging tests, and biopsies, may be used to help make a diagnosis
Diagnostic LeukApheresis (DLA) Removal of the blood to collect specific blood cells such as leukocytes. The remaining blood is then returned to the body
Diagnostic test A type of test used to help diagnose a disease or condition
DNA Deoxyribonucleic acid (DNA) is the molecule that encodes the genetic instructions used in the development and functioning of all known living organisms and many viruses
Downstream technologies Technologies used to undertake molecular analysis of harvested cells after the separation has taken place
EGFR The epidermal growth factor receptor – a signalling molecule which is typically present on the cell surface and can control cell activity including cell proliferation. Mutations in EGFR or deregulation have been associated with a number of cancers including ~30% of all epithelial cancers
Enrichment Generic term for concentrating target cells or molecules in a starting heterogeneous mixture
Enumeration  To determine the number of; count 
EpCAM The Epithelial Cell Adhesion Molecule (EpCAM) protein is found spanning the membrane that surrounds epithelial cells, where it is involved in cell adhesion
EpCAM+ cells Cells that express EpCAM. CTCs can be either EpCAM+ or EpCAM-
Epithelial cells Cells that line the surfaces and cavities of the body
Epithelial-mesenchymal transition  Process by which epithelial cells lose their cell polarity and cell-cell adhesion, and gain migratory and invasive properties to become mesenchymal cells. EMT is thought to occur as part of the initiation of metastasis and is often responsible for cancer progression
EMT Epithelial-mesenchymal transition
Epitope A part of a molecule to which an antibody will bind
FDA U.S. Food and Drug Administration responsible for authorised medical products in the United States
FDA Class II Device Medical devices with an intended use that is considered medium or moderate risk. For non-exempt devices the FDA require a pre-market clearance or approval to be issued before a company can legally market their device. The company will be required to have general medical device quality system controls in place as well as device specific special controls (which may include device labelling and design control processes and documentation)
FDA 510(k) A 510(k) is a premarket submission made to the FDA to demonstrate that the device to be marketed is at least as safe and effective, that is, substantially equivalent, to a legally marketed device that is not subject to Premarket Approval. Submitters must compare their device to one or more similar legally marketed devices and make and support their substantial equivalency claims
FDA De Novo The De Novo process provides a pathway to classify novel medical devices for which general controls alone, or general and special controls, provide reasonable assurance of safety and effectiveness for the intended use, but for which there is no legally marketed predicate device (therefore the FDA 510(k) route does not apply). Devices that are classified into class I or class II through a De Novo classification request may be marketed and used as predicates for future premarket (510(k)) submissions
Flow-Thru Chip® A disposable consumable containing a highly uniform porous substrate on which up to 576 individual zones are printed with reagents that specifically bind to molecules of interest in the sample. Sample flowing through the 10 micron pores is forced into contact with the coated surface, providing very rapid and efficient capture of any targets present in solution that each assay is designed to measure
Fluorescence In-Situ Hybridization (FISH) A laboratory technique for detecting and locating a specific DNA sequence on genes or chromosome in tissue and cells. The technique relies on exposing genes or chromosomes to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the genes or chromosome and they light up when viewed under a microscope with a special light
Gene expression The process by which a gene gets turned on in a cell to make RNA and proteins. Gene expression may be measured by looking at the RNA or the protein made from the RNA
Genome Genetic material of an organism. The genome includes both protein coding and non-coding sequences
Genotyping Process of determining differences in the genetic make-up (genotype) by examining the DNA sequence
Gleason Score A system of assessing how aggressive prostate cancer tissue is based on how it looks under a microscope. Gleason scores range from 2 to 10 and indicate how aggressive and fast-growing the cancer is. A low Gleason score means the cancer tissue is similar to normal prostate tissue and the tumour is less likely to spread; a high Gleason score means the cancer tissue is very different from normal prostate tissue and the tumour is more likely to spread
Gynaecological cancer Cancer of the female reproductive tract, including the cervix, endometrium, fallopian tubes, ovaries, uterus, and vagina
Harvest Process for recovering captured cells from the separation system to allow molecular analysis
Harvest efficiency Proportion of target cells harvested
Harvest purity The number of target cells (such as CTCs) in the harvest as a proportion of the WBC. The minimum purity from which downstream analysis is possible is 0.5%. Analysis of one target cell therefore requires no more than 200 WBC be in the harvest
HER2 A member of the epidermal growth factor receptor (EGFR/ERBB) family. Amplification or overexpression of HER2 has been shown to play an important role in the development and progression of certain aggressive types of breast cancer. In recent years the protein has become an important biomarker and target of therapy for ~ 30% of breast cancer patients
Heterogeneity A word that signifies diversity
Histopathology The study of diseased cells and tissues using a microscope
HNV Healthy normal volunteer
HT29 Cultured colorectal cancer cell line

Hybrid Capture, Enrichment, Amplification and Detection

A sample preparation method for capturing targeted nucleic acid sequences (RNA or DNA) directly from biological samples without the need for extraction, introducing universal priming sequences into copies of those specific sequence regions, and permitting amplification of all targets simultaneously in a single PCR reaction for direct detection on Ziplex

Immunohistochemistry A lab test that uses antibodies to test for certain antigens (markers) in a sample of tissue. Immunohistochemistry is used to help diagnose diseases, such as cancer. It may also be used to help tell the difference between different types of cancer
Immunostain A general term that applies to any use of an antibody-based method to detect a specific protein or antigen in a sample
Immunotherapy Treatment that stimulates the body’s immune system to fight cancer
In-cassette labelling or in-situ labelling CTC labelling for cell identification undertaken inside the separation system
Indolent cancer A type of low risk cancer that grows slowly
In vitro diagnostic (IVD) An in vitro diagnostic is a method of performing a diagnostic test outside of a living body in an artificial environment, usually a laboratory
Key Opinion Leader Key Opinion Leaders (KOLs) are research centres and/or physicians who influence their peers’ medical practice
KRAS A signalling molecule frequently mutated in the development of many cancers
Laboratory developed test (LDT)  A laboratory developed test (LDT) is a type of in vitro diagnostic test that is designed, manufactured and used within a single laboratory. 
Leukocytes White blood cells
Liquid biopsy Term used for the process of obtaining cancer cells (or cell-free DNA) from a blood sample. Unlike solid biopsy, liquid biopsy is non-invasive and repeatable
Localised Describes disease that is limited to a certain part of the body. For example, localised cancer is usually found only in the tissue or organ where it began, and has not spread to nearby lymph nodes or to other parts of the body. Some localised cancers can be completely removed by surgery
Lymphocyte A type of immune cell that is made in the bone marrow and is found in the blood and in lymph tissue. A lymphocyte is a type of white blood cell
Lysis The breaking down of a cell, often by viral, enzymatic, or osmotic mechanisms that compromise its integrity
Malignant Cancerous. Malignant cells form part of the tumour, and can invade and destroy nearby tissue and spread to other parts of the body
Marker A diagnostic indication that disease may develop or is already present. A chemical substance produced by a cancer and used to monitor the progress of the disease. These chemicals are usually measured by a blood test
Medtech  Med Tech, or Medical Technology, is a broad discipline. It is defined as a field that accounts for technologies i.e. devices to the healthcare systems for diagnosis, patient care, treatment and improvement of a person’s health
meEGFR Arginine methylation of the epidermal growth factor receptor
Megakaryocyte A large bone marrow cell with a lobulated nucleus responsible for the production of blood thrombocytes (platelets), which are necessary for normal blood clotting
Mesenchymal CTCs CTCs generally lacking epithelial markers with mesenchymal features 
Metastasis Spread of a cancer from one site to another
Microfluidic device An instrument that uses very small amounts of fluid on a microchip to do certain laboratory tests. A microfluidic device may use body fluids or solutions containing cells or cell parts to diagnose diseases
Microtentacles Microtubule-based membrane protusions in detached cancer cells
Molecular analysis Analysis of DNA, RNA and protein often used to determine the mutational status of a patient
Morphology The study of the form and structure of cells
Mouse model The use of special strains of mice to study a human disease or condition, and how to prevent and treat it
mRNA Messenger RNA used to direct the synthesis of proteins
Mutation A gene mutation is a permanent change in the DNA sequence that makes up a gene. Gene mutations can be inherited from a parent or can happen during a person’s lifetime. Mutations passed from parent to child are called hereditary or germline mutations. Mutations that happen during a person’s life, known as somatic mutations, can be caused by environmental factors such as ultraviolet radiation from the sun. Or they can occur if a mistake is made as DNA copies itself during cell division
Mutational analysis Testing for the presence of a specific mutation or set of mutations
Next Generation Sequencing (NGS) Also known as high-throughput sequencing, is the catch-all term used to describe a number of different modern sequencing technologies including: Illumina (Solexa) sequencing. Roche 454 sequencing. ThermoFisher Ion torrent: Proton / PGM sequencing. It is a method by which the bases of DNA and RNA can be determined, which is used in biological research and to obtain clinically relevant information
NICE Abbreviation for the National Institute for Health and Care Excellence
Non-invasive In medicine, it describes a procedure that does not require inserting an instrument through the skin or into a body opening. Although a needle is inserted to draw blood, liquid biopsies are referred to as non-invasive as they do not require surgery
NSCLC Non Small Cell Lung Cancer
Off-chip labelling CTC labelling for cell identification of harvested cells undertaken outside the separation system
Oncologist A doctor who has special training in diagnosing and treating cancer and may also specialise in certain cancers or techniques
Oncology A branch of medicine that specialises in the diagnosis and treatment of cancer. It includes medical oncology (the use of chemotherapy, hormone therapy and other drugs to treat cancer), radiation oncology (the use of radiation therapy to treat cancer) and surgical oncology (the use of surgery and other procedures to treat cancer)
Paired samples  Two related samples often used to compare different systems
Parsortix® system The name of the core technologies developed and used by ANGLE to capture and harvest CTCs comprising the automated instrument to run blood samples through the microfluidic cassette and all the associated operating procedures and protocols
Pathologist A doctor who has special training in identifying diseases by studying cells and tissues under a microscope
PathVysion The name of the Abbott Molecular test kit. The PathVysion HER-2 DNA Probe Kit II (PathVysion Kit II) is designed to detect amplification of the HER-2/neu gene via FISH in formalin-fixed, paraffin-embedded human breast and gastric cancer tissue specimens. The PathVysion HER-2 DNA Probe Kit II is one of the first examples of what is recognized as genomic disease management, or personalized medicine. This means that the test helps enable the accurate assessment of a patient’s HER-2 status at the DNA level with a high degree of accuracy and helps guide doctors to make the most appropriate therapy decisions based on the patient’s own genetic profile
Patient study A type of research study, on a smaller scale than a clinical study, that tests how well new medical approaches work in people. These studies test new methods of screening, prevention, diagnosis, or treatment of a disease
PCR See Polymerase Chain Reaction
PD-L1 Programmed death-ligand 1 (PD-L1) is the principal ligand of programmed death 1 (PD-1), a coinhibitory receptor that can be constitutively expressed or induced in myeloid, lymphoid, normal epithelial cells and in cancer
Peer-reviewed publications  A publication that contains original articles that have been written by scientists and evaluated for technical and scientific quality and correctness by other experts in the same field
Pelvic mass A general term for any growth or tumour on the ovary or in the pelvis. A pelvic mass can be cystic (cystadenoma), solid (fibroma) or both (dermoid). A pelvic mass can be benign or malignant
Peripheral blood Blood circulating throughout the body
Personalised cancer care Treating a patient individually based on their personal data often including mutational and disease status
Pharma Pharmaceutical companies collectively as a sector of industry 
Phenotype A phenotype is the composite of an organism’s observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, behaviour and products of behaviour. A phenotype results from the expression of an organism’s genes as well as the influence of environmental factors and the interactions between the two
Pilot study The initial study examining a new method or treatment
Plasma Pale-yellow liquid component of blood obtained following removal of cells
Polymerase Chain Reaction (PCR) A laboratory technique used to amplify DNA sequences. The method involves using short DNA sequences called primers to select the portion of the genome to be amplified. The temperature of the sample is repeatedly raised and lowered to help a DNA replication enzyme copy the target DNA sequence. The technique can produce a billion copies of the target sequence in just a few hours
Portrait+TM  ANGLEs proprietary assay providing pharma services and clinicians with a sample to answer solution
Precision medicine The customisation of healthcare – with medical decisions, practices, and/or products being tailored to the individual patient. In this model, diagnostic testing is often employed for selecting appropriate and optimal therapies based on the context of a patient’s genetic content or other molecular or cellular analysis
Pre-labelled cell lines Cells which are labelled often with a fluorescent label to facilitate identification during analysis or enrichment
Prognosis The likely outcome or course of a disease; the chance of recovery or recurrence
Prostate-Specific Antigen (PSA) A protein made by the prostate gland and found in the blood. PSA blood levels may be higher than normal in men who have prostate cancer, benign prostatic hyperplasia (BPH), or infection or inflammation of the prostate gland
Proteome The complete set of proteins made by an organism. Proteins are made in different amounts and at different times, depending on how they work, when they are needed, and how they interact with other proteins inside cells
Proteogenomics The study of how information about the DNA in a cell or organism relates to the proteins made by that cell or organism. This includes understanding how genes control when proteins get made and what changes occur to proteins after they are made that may switch them on and off. Proteogenomics may help researchers learn more about which proteins are involved in certain diseases, such as cancer, and may also be used to help develop new drugs that block these proteins
Protocol A detailed plan of a scientific or medical experiment, treatment, or procedure. In clinical studies, it states what the study will do, how it will be done, and why it is being done. It explains how many people will be in the study, who is eligible to take part in it, what study drugs or other interventions will be given, what tests will be done and how often, and what information will be collected
PSA See Prostate-Specific Antigen
Purity The relative absence of extraneous matter in a sample
Q-Submission The FDA’s Pre-Submission Program which allows medical device and IVD manufacturers to discuss specific aspects of the regulatory process and requirements with FDA experts
Radiotherapy The use of high-energy radiation from x-rays, gamma rays, neutrons, protons, and other sources to kill cancer cells and shrink tumours
Recurrence Cancer that has recurred, usually after a period of time during which the cancer could not be detected. The cancer may come back to the same place as the original (primary) tumour or to another place in the body
Regulatory authorisation The authorisation by the appropriate regulatory body for a specific territory that allows an in vitro diagnostic product to be sold for clinical use in that territory
Relapse When an illness that has seemed to be getting better, or to have been cured, comes back or gets worse again
Remission If a cancer is in remission, there is no sign of it in examinations or tests. Generally, the longer the remission, the less likely it is that the patient will relapse
Research use Sales can be made to certain organisations of in vitro diagnostic products without the need for regulatory authorisation provided they are labelled as Research Use Only (RUO) or Investigational Use Only (IUO)
RNA Ribonucleic acid performs multiple vital roles in the coding, decoding, regulation, and expression of genes. Together with DNA, RNA comprises the nucleic acids, which, along with proteins, constitute the three major macromolecules essential for all known forms of life
RNA-Sequencing (RNA-seq) Also called whole transcriptome shotgun sequencing (WTSS), uses next-generation sequencing (NGS) to reveal the presence and quantity of RNA in a biological sample at a given moment in time
Screening Checking for disease when there are no symptoms. Since screening may find diseases at an early stage, there may be a better chance of curing the disease
Sensitivity Refers to the percentage of people who test positive for a specific disease or condition among people who actually have the disease or condition
Separation Term used for processing of a sample through the Parsortix system
Single cell analysis Extraction of a single target cell from the harvest for analysis
Solid biopsy Standard process for surgically excising (cutting out) cells from a solid tumour when that tumour is accessible
Specificity Refers to the percentage of people who test negative for a specific disease or condition among a group of people who do not have the disease or condition
Spiked cell experiments Experiments where cultured cells are added (spiked) to HNV blood to assess the capture and harvest efficiency of the system
Stage The extent of a cancer in the body. Staging is usually based on the size of the tumour, whether lymph nodes contain cancer and whether the cancer has spread from the original site to other parts of the body
Standard Operating Procedure (SOP) Written instructions for doing a specific task in a certain way. In clinical trials, Standard Operating Procedures are set up to store records, collect data, screen and enrol subjects and submit Institutional Review Board (IRB) applications and renewals
Tissue Tissue is a group of cells that have similar structure and that function together as a unit 
Transcriptome (whole) The transcriptome is the set of all messenger RNA molecules in one cell or a population of cells
Translational research A term used to describe the process by which the results of research done in the laboratory are used to develop new ways to diagnose and treat disease
Triage The process of determining the priority of patients’ treatments based on the severity of their condition

An abnormal mass of tissue that results when cells divide more than they should or do not die when they should. Tumours may be benign (not cancer), or malignant (cancer)

Tumor is the American English spelling and Tumour is the standard English spelling

Tumour heterogeneity

Describes the observation that different tumour cells can show distinct morphological and phenotypic profiles, including cellular morphology, gene expression, metabolism, motility, proliferation, and metastatic potential. This phenomenon occurs both between tumours (inter-tumour heterogeneity) and within tumours (intra-tumour heterogeneity)

The heterogeneity of cancer cells introduces significant challenges in designing effective treatment strategies

Tumour marker

A substance found in tissue, blood, or other body fluids that may be a sign of cancer or certain benign (non-cancerous) conditions. Most tumour markers are made by both normal cells and cancer cells, but they are made in larger amounts by cancer cells. A tumour marker may help to diagnose cancer, plan treatment, or determine how well treatment is working or if the patient has relapsed

Examples of tumour markers include CA-125 (in ovarian cancer), CA 15-3 (in breast cancer), CEA (in colon cancer), and PSA (in prostate cancer)

WBC White blood cells
Whole exome sequencing (WES) A genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology
Whole genome amplification (WGA) Method for amplification of an entire genome necessary for the picogram amounts of genomic DNA present in a single cell
Whole Genome Sequencing (WGS) A laboratory method that is used to learn the exact order of all of the building blocks (nucleotides) that make up a person’s genome (complete set of DNA). Whole genome sequencing is used to find changes that may cause diseases, such as cancer27
Whole Transcriptome Amplification (WTA) A method used to amplify the entire transcriptome from RNA isolated from cells or tissues prior to RNA sequencing. RNA sequencing has enabled high-throughput gene expression profiling to provide insight into the functional link between genotype and phenotype. This has enabled profiling of gene expression in cancer
Ziplex® An automated hybridization array platform that combines chemiluminescence and Flow-Thru Chips for the detection of minute amounts of up to 500 nucleic acid or protein targets simultaneously

Primary source: www.cancer.gov/publications/dictionaries/cancer-terms;