Home » Cholangiocarcinoma Day, patients ask for access to genomic tests

Cholangiocarcinoma Day, patients ask for access to genomic tests

by admin
Cholangiocarcinoma Day, patients ask for access to genomic tests

Cholangiocarcinoma is a tumor that affects approximately 5,400 people in Italy every year. Especially in the South, where cases are 20% more than in the North, as emerged from the conference “Cholangiocarcinoma: new perspectives” taking place today at the A. Gemelli IRCCS University Hospital in Rome. An event promoted by the Italian Cholangiocarcinoma Patients Association (APIC) on the occasion of February 16, World Day dedicated to this neoplasm. Objective: “Increase the awareness of all actors involved to improve patients’ perspectives”, as a says Oncoline Paolo Leonardipresident of APIC.

Unfortunately, in fact, the diagnosis of cholangiocarcinoma often occurs in an advanced stage, in most cases when the tumor can no longer be surgically removed. This is because it is a pathology that does not give many signs of its presence or that causes symptoms that are difficult to identify. Hence the importance of the day dedicated to patients who suffer from it – which overall number 12,000 in Italy – also established to highlight new developments regarding treatment strategies and their accessibility.

A path for patients with cholangiocarcinoma by Tina Simoniello 30 November 2022

Incidence and risk factors

“Cholangiocarcinoma, or biliary tract cancer, originates in the ducts that transport bile from the liver to the intestine,” he explains Giampaolo Tortora, director of the Comprehensive Cancer Center of Fondazione Policlinico Gemelli IRCCS and professor of oncology at the Catholic University. It is a pathology that mainly affects people between the ages of 50 and 80, and which in the majority of cases presents itself suddenly: “One diagnosis in four – continues the expert – occurs completely randomly through exams or checks carried out for other health reasons. This explains why the five-year survival rates for men and women are only 17% and 15% respectively.”

See also  Covid, that's why the Mu variant lost to Delta

As anticipated, the statistics also show that the incidence of this type of tumor is higher in Southern Italy: “The differences in incidence could be partly explained through a risk factor such as obesity – says Tortora – The serious excess weight in Italy has higher rates among the population, both adults and pediatrics, in various southern regions”. Other risk factors are smoking, exposure to pollutants, chronic inflammatory bowel diseases and above all chronic inflammation of the bile duct and the presence of gallstones, which are found on average in 80-85% of patients. suffering from this pathology.

Solid tumors with Trk fusion: long-term efficacy evidence for the ‘jolly’ therapy by Irma D’Aria 06 June 2023

Accessibility to Ngs tests

To guarantee people affected by cholangiocarcinoma an increasingly personalized and specific therapy, Leonardi underlines, it is necessary to carry out molecular profiling, i.e. a test that highlights any mutations of the tumor so as to be able to identify the most suitable target drug: Today’s technology the most used is that of Next Generation Sequencing (NGS): “However – he continues – the amendment to the finance law [approvato a dicembre del 2022 e che prevede lo stanziamento di 200mila euro annui per il triennio 2023-2025, nda] covers the cost of just 153 of these tests each year. According to the latest statistics, annual diagnoses of cholangiocarcinoma are around 5,400: but if we can cover 153 in a year, what happens to the others. We know that Regions such as Emilia-Romagna, Lombardy and Veneto are moving to cover the costs of these tests, and that some research centers are making them available by paying the costs. But what happens to those who don’t end up in these centers or don’t live in these regions?”.

Tumors, a national program for free access to the most advanced genomic tests is underway by Tiziana Moriconi 10 January 2023

See also  Netflix now offers video games in the Android app-

Immunotherapy and targeted drugs

As he explains Lorenza Rimassa, associate professor of medical oncology at Humanitas University and IRCCS Humanitas Research Hospital in Rozzano (Milan), this type of tumor responds poorly to radiotherapy and chemotherapy: “There is however a benefit both for operated patients and for patients with disease inoperable or relapsed. The innovations of the last few years, however, are immunotherapy and molecularly targeted therapies.” The former, administered together with chemotherapy, has been shown to significantly increase overall and disease-free survival and objective response rate. The latter allow you to act selectively on specific targets present on tumor cells. “For this reason – underlines the expert – it is now essential that patients with cholangiocarcinoma are offered the possibility of molecular profiling of the neoplasm, in order to identify the presence of alterations that can be targets of targeted drugs”.

Biliary tract tumors, immunotherapy put to the test in clinical practice by Tiziana Moriconi 19 December 2023

Spread information

According to Leonardi, there are some encouraging signs but a long way remains to be covered. “One of the main problems we encounter is access to safe and certified information by patients, family members and caregivers,” he underlines. And in this sense APIC is committed on many fronts: “For example, we have made available on our website a list of specialized centers. Since it is a little-known pathology, it is very important to go to centers that have accumulated experience over time to be able to deal with it.” The association also promotes contact and the exchange of information between patients, promotes national meetings in which doctors specialized in this type of pathology take part, and has planned a series of informative webinars for general practitioners, through which to highlight the risk factors for the onset of the disease and the few known signs or symptoms that can lead to the diagnosis. “Because greater awareness on the part of all the actors involved – concludes Leonardi – is the first step to contain such a complex pathology”.

You may also like

Leave a Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.

This website uses cookies to improve your experience. We'll assume you're ok with this, but you can opt-out if you wish. Accept Read More

Privacy & Cookies Policy