International Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Medical University
Head of the Genetics and Pathology Unit: prof. dr hab. med. Jan Lubiński
Pancreatic cancer is an aggressive disease with a high mortality rate. The incidence rate is constantly increasing, and currently is at 200,000 new cases per year worldwide (1). According to National Cancer Registry, 3,253 patients was diagnosed with this condition in 2008 in Poland. Incidences of pancreatic cancer ranks in the top ten of all malignancies in Poland, while the mortality rate of the condition is among the highest in all neoplasms. In 2008 there were 93,060 cancer deaths, including 2,253 males and 2,269 females with pancreatic cancer, which puts the disease in seventh place in deaths due to cancer (2). Taking into account this extreme mortality rate in several countries the condition ranks even higher, fourth place on the list of deaths due to cancer, immediately after lung, breast and bowel cancer.
The mortality rate in pancreatic cancer showed an increasing trend in Poland over recent decades (3). The disease progresses rapidly with mean survival time of 6 months. Since the moment of diagnosis <2% of patients survive 5 years, 8% survive 2 years and <50% survive 3 months or more (4). Nearly all patients with pancreatic cancer die of this condition.
Pancreatic cancer is a disease of elderly people. Approximately 80% of diagnosed patients are aged between 60 and 80 (5, 6). Cases of the disease in patients under the age of 40 is extremely rare. Mean age at the time of diagnosis is 65. It was well proven that the disease tends to occur more frequently in man than in women, though the difference is minor (7, 8, 9). Detection of the condition, despite obvious diagnostic advances, remains difficult, leading to a diagnostic delay of 4 to 9 months. Early recognition is hindered by the lack of specific signs at that stage.
Exocrine glandular pancreatic cancer (i.e. adenocarcinoma) constitutes 85-90% of pancreatic neoplasms. Cancer can be localized in the head (60-70%), body (5-10%), or tail of the pancreas (10-15%). In 20% of cases it is diffused and engrosses the entire gland.
Even though the etiology of pancreatic cancer is not fully understood there are many well-known known risk factors for pancreatic cancer. They include environmental risk factors such as smoking, a diet rich in protein and fat (obesity), diabetes, exposure to hydrocarbons and petroleum derivatives, chronic inflammation, infection and previous cholecystectomy.
Genetic predisposition to pancreatic cancer manifests in three forms (10). Firstly, the disease occurs frequently in many genetic syndromes. Secondly, conditions such as hereditary pancreatitis and cystic fibrosis provoking early pancreatic lesions may lead to pancreatic cancer. Lastly, familial pancreatic cancer which is related to families with two or more cases of pancreatic cancer among first-degree relatives, while not meeting criteria of any genetic syndrome.
With Peutz-Jeghers Syndrome there is an increased risk of pancreatic, breast, lung, ovarian and endometrial cancer (11). Approximately 50% of patients with the condition will develop cancer (12, 13, 14, 15). Pancreatic cancer is one of the most frequent in Peutz-Jeghers Syndrome. The underlying genetic cause of the disease is germinal mutation within STK11/LKB1 ( serine/threonine kinase 11) suppressor gene.
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