About Melanoma

Melanoma is the most aggressive form of skin cancer. It originates in the melanocytes, the pigment-producing cells responsible for coloring the skin, hair, and eyes. Most melanomas are brown or black, although lesions may include areas of red, pink, purple, blue or white.

The incidence of melanoma has been increasing worldwide. Recent estimates show that 197,000 people worldwide1are diagnosed with melanoma each year. The highest rates of melanoma occur in Australia and New Zealand. Melanoma is caused primarily by exposure to ultraviolet radiation (UVA and UVB) in sunlight. Individuals with fair skin that sunburns easily are at greater risk of developing melanoma than darker-skinned individuals, although melanoma can affect any skin type. Family history is also an important risk factor.

Melanoma is the most aggressive form of skin cancer. It originates in the melanocytes, the pigment-producing cells responsible for coloring the skin, hair, and eyes. Most melanomas are brown or black, although lesions may include areas of red, pink, purple, blue or white.

Melanoma’s disease stage is determined by the thickness, depth of penetration and the degree to which the melanoma has spread to lymph nodes and distant sites in the body. The outcome of melanoma is strongly influenced by the disease stage at presentation. The prognosis for patients who are treated early, when melanoma affects only the superficial layers of the skin, is excellent and the disease is often curable. Once the cancer becomes invasive and spreads to other parts of the body, melanoma is very difficult to treat and is usually fatal. The average survival for patients with metastatic melanoma is less than nine months.2

Malignant melanoma, the most aggressive type of skin cancer, is treatable if diagnosed at an early stage. But currently the prognosis is poor once the disease has spread to other parts of the body (metastasised), accounting for nearly 80% of deaths. Historically, patients with metastatic melanoma live for less than 60 days without their disease worsening and the median overall survival for these patients is less than 12 months – a clear case of currently unmet medical need!

A specific subgroup of mutations cause constitutive activation of this protein allowing it to signal independently of upstream cues.

The majority of these mutations are readily detectable via a validated and approved diagnostic test.

The constitutively active oncogenic protein then activates another protein, which then translocates into the nucleus. Here it binds to different transcription factors. This constitutive signaling by this oncogenic protein causes excessive trancription of genes that promote cell proliferation and survival in vivo, this leads to tumour genesis.

What Is Metastatic Melanoma?

Metastatic melanoma is the deadliest and most aggressive form of skin cancer. It develops when the pigment cells in the skin grow in an uncontrolled way. If identified and treated early, melanomas respond well to treatment. But once secondary tumours (metastases) have formed and spread through the body, the chances of recovery are slight.

Activation of specific receptors initiates an intracellular signaling cascade which ultimately leads to cell proliferation and survival. In metastatic melanoma, a specific protein is oncogenic in approximately 50% of cases resulting in overactive down-stream signaling and cell proliferation. Therefore, this oncogenic protein is a potential therapeutic target in metastatic melanoma.

How Is Metastatic Melanoma Diagnosed And Treated?

Any change in the size, form, colour or sensitivity of an existing pigmented mole or the formation of a new one can be an indication of melanoma and should be looked at by a doctor. Metastatic melanoma can be treated by surgery, radiation/chemotherapy or therapies fortifying the immune system. The therapies are either combined or used individually depending on the stage the disease has reached

Where Personalised Healthcare Comes In

 Skin cancer therapy is the latest example of the approach successfully combining accurate molecular diagnosis with targeted therapy. A new active substance, attacks the protein product of the altered (mutated) gene. The mutated gene causes uncontrolled division of the skin cells.

 Scientists first discovered the mutated gene in metastatic melanoma cells back in 2002. In the meantime it has been detected in approximately half of all these patients. Given this new molecular-biological information, the active substance took only a relatively short time to develop. Targeted therapy is accompanied by a test designed to detect the mutation in the tumour at a molecular level. The test thus identifies patients who are likely to respond to the new substance.