Liquid Biopsy and its role in fighting cancer

Wrong diagnosis and wrong medications can lead to fatal results in person’s health. According to September 2014 bulletin of Sample Registration System (SRS), India has an infant mortality rate of 40 per 1,000 live births.Wrong drugs cause 50 deaths out of 1000 patients in India. Most of the times, a regular disease can exaggerate and become fatal because of the wrong diagnosis and medications. Same was the case with Mr. Deshpande (name changed) – which almost took a toll on his life.

When Mr. Deshpande, a 74 year old retired banker started suffering from abdominal pain, weakness, and fatigue, his wife was alarmed because he had always been very careful about his diet and exercise regime. Neither did he miss his regular check-ups. He wanted to lead his retirement exactly the way he had planned. However, all his plans were short lived because of his constant health issues after the retirement.

On the contrary, he also lost his weight drastically. When his wife took him to their GP, he referred them to an expert in the city where he was first diagnosed with adenocarcinoma of colon in November 2013.

After the diagnosis, the doctors suggested surgical resection which would be followed by chemotherapy. Doctors also advised a Positron Emission Tomography (PET) scan. This scanning is basically to check how the tissues and organs in the body are working. A year later,in November 2014, while testing, a mass measuring 2.1 x 1.7 cm was detected in the lung with speculated margins. The doctors assumed it as a metastasis from colon cancer and started with Capecitabine – a chemotherapeutic agent.

After the prescriptions, he was being continuously monitored with PET scans. However, despite of the chemotherapy which was ongoing since a year, the mass was continuously increasing in size.

Doctors were not sure if it was indeed a metastasis of colon cancer, or it was a result of tuberculosis or in a worse case, primary lung carcinoma?

After looking after a varied possibilities and options, he was referred for a liquid biopsy. However, Mr. Deshpande was reluctant because of general perception of the biopsies. He was only relieved when the doctors explained that the procedure is as easy as a simple blood test.

Liquid Biopsy showed mutation burden 4.4 % of total cell free DNA. It was an indication of active primary lung carcinoma. The Liquid Biopsy indicated therapeutic response to targeted anti EGFR therapies such as Afatinib, Gefitinib and Erlotinib.

Here, Gefitinib was prescribed to the patient. This drug is only effective in cancers with mutated and overactive EGFR. It started showing its results and the tumor began to shrink gradually. Repeat PET scan showed reduction in tumor size by 70%. That meant a great success of the accurate diagnosis and correct medications.

Liquid Biopsy after three weeks
Liquid Biopsy after three weeks

Five weeks later, detectable mutation burden in the cell free DNA obtained from plasma was negative. The mutation burden was reduced even more as compared to the previous analysis possibly due to Gefitinib therapy.

Mr. Deshpande is completely hale and hearty now. It’s interesting how one correct step towards the course of treatment can leave a huge impact on patient’s well-being.

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8 symptoms that can possibly indicate the person has lung cancer

Though lung cancer is one of the major reasons of cancer related death among men and women worldwide, most of the deaths occur because of the late diagnosis and thus, the treatment initiates when the cancer is almost in the last stage. It therefore, becomes too late to cure the disease and save the life of the person.

It becomes helpful if the person knows about the reason about the physical problems they are facing. Apart from heavy coughing- which is the most common symptom of any respiratory problems, here are some symptoms which may indicate lung cancer-

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  1. Hemoptysis

Hemoptysis – coughing up blood happens in many people who have lung cancer. It is one of the major symptoms of the disease. Even if the amount of coughed blood is very less, it is still a matter of concern.

  1. New cough

Newly occurred cough in a regular smoker or a person who has quit smoking is also a concern for lung cancer and should be treated accordingly.

  1. Continuous cough

This does not mean just a heavy cough; but a cough which is mild but still persists for a long duration of time. Many a times, it gets worse after a certain period and can be a symptom of lung cancer.

  1. Chest pain

In around one-fourth of the people, chest pain is a symptom of lung cancer. This pain is persistent, painful and dull.

  1. Hoarseness

Hoarse voice or wheezing is caused due to the blockage or inflammation in lungs and may be accounted to cancer.

  1. Short breath

Shortness of breath is generally a result of a blocked air flow in the lungs, collection of fluid around the lung which is also called – plural effusion, or sometimes, the tumor is spread throughout the lungs.

  1. Respiratory infections

Respiratory problems like bronchitis or pneumonia can signal towards lung cancer. It is common in the cases of non-smokers where the doctors treat the patient for bronchitis, pneumonia, or asthma before the actual problem is discovered.

  1. Unrelated to lungs

Along with the above symptoms, there are some that are not related to the respiration or lungs. E.g. Weight loss, loss of appetite, headaches, bone pain or fractures, blood clots. These symptoms are remotely associated with lung cancer, and therefore it is important to keep a check.

Bone pain and fractures is usually an indication of  Lung cancer metastasis i.e. the cancer has spread to the other parts of the body. It is usually at the sites of bone involvement. Lung cancer metastasis to brain usually causes number of neurological symptoms like headaches, seizures, blurred vision, altered thought process, or symptoms of stroke.

Testing identifies the risk factors even before any symptoms and hence proves very helpful.

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Lung cancer and its causes beyond smoking

In India, lung cancer constitutes more than 7 per cent of all new cancer cases and around 10 per cent of all cancer related deaths. This is applicable for both genders. Lung cancer is the commonest cancer and biggest cause of cancer related mortality in men. Whenever we read about lung cancer, the first thought that comes to our mind is smoking. Indeed, smoking is the biggest cause of lung cancer, however, other factors cannot be overlooked as they too affect both the genders equally. One of those is our genetic make-up.

Lung cancer tops the list of cancers in males – In India and globally.

While smoking is a known risk factor, pollution, passive smoking and hazardous work environment – like asbestos, mica, coal and bauxite mining. 15% of the lung cancer cases in India are often attributed to a combination of genetic factors, radon gas, asbestos, pesticides and air pollution including passive and static smoking.

Second hand smoke

It is one of the important factors in tobacco-related deaths in India. Second-hand smoke is the one that fills enclosed places like restaurants, offices when people smoke cigarettes, cigars, or bidis. Tobacco smoke contains more than 4000 chemicals in out of which at least 250 are harmful and more than 50 chemicals from it are known to cause cancer. This also affects children as many of them regularly breathe polluted air in public spaces which has smoke in it. Around 45% children have either of the parents having smoking habit.
Britain recently made a law that stops anyone from smoking in a car that has passengers below 18 years of age. More than 2 lakh people die because of second hand smoke in India.


Lung cancer is more common in the people who work in sectors like auto mechanics, construction workers, insulation installer, roofers, paper mill workers, etc. Risk of Lung cancer increases from exposure to asbestos every year by 4 percent.

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Genetic Make up

Genes and genetic variations in our body contribute to the bodily functions and overall health. This also includes the possibility of having various diseases which are hereditary or developed in our body due to changes in the genetic codes. Researchers studied entire genomes of cancer patients as well as healthy individuals and found out a region on chromosome 15 which may have been influential in causing lung cancer. Mutations in CHEK 2 gene also largely affect the risk of lung cancer. Some people inherit a reduced ability or inability to break down certain types of cancer-causing chemicals in the body. E.g. those found in tobacco smoke. This increases their risk of lung cancer.

Datar Genetics Limited offers Hereditary Cancer Screening test which identifies such risk for lung and other forms of cancer. This test can help your doctor to decide further course of treatment.

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