Only 25% of patients are candidates for life-saving surgery and refer to Centers of fundamental experience, together with genetic tests, to choose the most effective therapeutic strategies for individual patients
it is a rare and insidious tumor, because it does not give initial symptoms and grows very rapidly. It is thus often recognized when it is now in an advanced stage and difficult to cure. Because of this cholangiocarcinoma remains a difficult enemy: only one in four patients, in fact, is a candidate for life-saving surgery. Moreover, although they are now known different genetic mutations that make the disease potentially treatable with new drugs with a molecular target, the molecular profiling test is still not guaranteed to all patients by the National Health Service. To draw attention to this neoplasm, diagnosed to over 5 thousand Italians every yearare the patients themselves, protagonists and witnesses at the first national conference on cholangiocarcinoma promoted and organized by the Italian Cholangiocarcinoma Association (APIC), one of the three patient associations worldwide, with the American Cholangiocarcinoma Foundation and the English AMMF.
What is cholangiocarcinoma
The meeting, recently held in Bologna, was an opportunity for open discussion between patients, specialists and associations to turn the spotlight on a neoplasm that is not recognized even among the doctors themselves and of which little is said. Cholangiocarcinoma is a malignant neoplasm that arises from the rapid and uncontrolled proliferation of cholangiocytes, the cells that make up the walls of the bile ducts. The bile ducts are the channels that transport the bile from the liver to the intestine and, based on the site of onset of the tumor, the intrahepatic cholangiocarcinomas (if they develop inside the liver) ed extrahepatic (if they arise from the external bile ducts). It mainly affects men, especially after the age of 70, but its appearance in young adults is increasingly frequent than in the past. Complicating matters is the fact that the disease is often characterized by generic symptoms (such as abdominal pain, weight loss, nausea, a general sense of weakness and tiredness), which can easily be underestimated or confused with those of other conditions.
Lightning debut
Information can make a difference,” he says Paolo Leonardi, president of APICborn in 2019 to offer a reference point to patients, with continuous updates on therapies and specialized centers —: we are facing a tumor that does not show signs of s, except in cases of jaundice with a yellowish discoloration of the sclerae of the eyes and skin that appears in an already advanced stage of the disease. Is that it grows rapidly: it doubles in volume every 28 days, leading to death in a few months (5 years after diagnosis, only 16% of patients are alive, ndr), if action is not taken in a timely manner. It is necessary to refer patients to specialized centers and to competent and expert surgeons, because it is a very delicate and complex surgery. The operation is the first fundamental step to be able to hope for recovery, but not always practicable due to the late diagnosis. In any case it is essential to be treated in a Center with experience, both in the operation (not simple due to the complexity of the area in which the neoplasm is located) and in the diagnosis and treatment, which require a multidisciplinary team of professionals expert in this specific pathology.
Genetic tests and new treatments
Scientific research in recent years has shown that, overall, approx half of cholangiocarcinomas have one or more mutations potentially treatable with targeted drugs. As in the case of the alteration of the FGFR2 gene, the most frequent, for which today there is (and already reimbursed in Italy) a new treatment for patients with locally advanced or metastatic disease and already treated with chemotherapy, which reduces the size of the tumor and leads to an improvement in median survival of more than one and a half years. Because of this all patients should undergo molecular profiling to identify any genetic mutations (with the NGS method, i.e Next Generation Sequencingable to use large panels compared to the “single gene” model, improving the ability to capture molecular mutations), but unfortunately today genetic tests are not reimbursed by the NHS although they are necessary to prescribe the new therapies aimed at a molecular target – concludes Leonardi -. finally there the great problem of new drugs: approval times in Italy are very long, even three years, while those with cholangiocarcinoma cannot wait. APIC intends to create around the sick and their families a support network so that they do not feel alone and intends to push the regulatory authorities to shorten the approval times of innovative drugs as much as possible.
December 13, 2022 (change December 13, 2022 | 15:28)
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