Cholangiocarcinoma: new study presented at EASL Liver Cancer Summit

February is the month dedicated to rare diseases worldwide, and on 20th February we celebrate World Cholangiocarcinoma Day: a rare tumour that accounts for less than 1 per cent of all malignant neoplasms and 3 per cent of those affecting the gastrointestinal tract. It is often diagnosed at an advanced stage because it hardly shows any symptoms at the beginning. It is therefore important to talk about it so that we can be aware of it and identify it in time.

The EASL Liver Cancer Summit 2025, the leading event for liver cancer research and treatment, will take place from 20 to 22 February in Paris. The opening plenary session is dedicated to cholangiocarcinoma. During the scientific event, the prestigious journal Lancet Regional Health Europe will present, for the first time, a series of groundbreaking papers, a commentary and an infographic. These are the result of the work of an important team of European researchers involving three female scientists: Professors Lorenza Rimassa from Humanitas University, Rocio IR Macias from the University of Salamanca, Spain, Chair COST Action Precision-BTC-Network, and Chiara Braconi from the University of Glasgow, Scotland, UK, Chair ENSCCA, European Network for the Study of Cholangiocarcinoma.

‘Conducting these studies has been an exciting and challenging task, states Lorenza Rimassa – Associate Professor of Medical Oncology at Humanitas University and Head of the Hepatobiliopancreatic Oncology Section of the IRCCS Istituto Clinico Humanitas – the aim was to provide an overview of the pathology, the research around it, therapeutic options available and the disparities in accessing those options in Europe. The aim of this work,’ she continues, ’is to learn more about the pathology to be able to diagnose the tumour earlier, but also to emphasise the role of a multidisciplinary team expert in the management of the disease, and lastly to expand the use of molecular tests, a crucial step in the diagnostic-therapeutic pathway of these tumours. Thanks to the parallel sequencing of several genes, the NGS (Next Generation Sequencing) technology, allows us to identify the presence of molecular alterations and thus subpopulations of patients who can benefit from specific molecular-targeted therapy. Furthermore, it is equally important to raise awareness about the difficulty in accessing the necessary drugs as well as the disparities that exist not only within Europe but also within individual countries’.

Cholangiocarcinoma: symptoms, diagnosis and treatment

Cholangiocarcinoma belongs to the group of tumours affecting the biliary tract along with gallbladder tumours. Depending on the location of its onset, it can be classified as intrahepatic, when it develops within the liver, or extrahepatic when it arises from the biliary tract outside the liver, which in turn is subdivided into perilateral and distal. Intrahepatic cholangiocarcinoma is the second most common primary liver tumour, affecting 5400 people in Italy each year, and is more common in southern regions where 20 per cent more cases are registered than in the north. ‘It is an aggressive disease and cases are increasing even in young adults, however the reason for this is still not clearly known,’ explains Professor Lorenza Rimassa. ‘Symptoms are often generic and this is why the tumour is diagnosed late, in 70% of cases at an advanced stage. One important finding is that up to 40 per cent of patients with cholangiocarcinoma have an actionable molecular alteration, i.e. potentially treatable with a targeted therapy, which is why access to NGS molecular profiling is so important. Today, new therapeutic options such as immunotherapy and molecular-targeted therapies are available also in Italy; however, cholangiocarcinoma remains one of the most complex tumours to treat’.

A concrete help for patients and their families in Italy is represented by the Association of Italian Cholangiocarcinoma Patients (APIC), which is very active in promoting safe and certified knowledge about the disease as well as a list of certified centres. The Association also promotes information meetings with specialised doctors.