Risk of multiple pancreatic cancers in CDKN2A-p16-Leiden mutation carriers

European Journal of Human Genetics : EJHG
Isaura IbrahimHans F A Vasen

Abstract

CDKN2A-p16-Leiden mutation carriers have a substantial risk of developing pancreatic ductal adenocarcinoma (PDAC). One of the main clinical features of hereditary cancer is the development of multiple cancers. Since 2000, we have run a surveillance program for CDKN2A-p16-Leiden mutation carriers. The patients are offered a yearly MRI with optionally endoscopic ultrasound. In patients with a confirmed lesion, usually, a partial resection of the pancreas is recommended. A total of 18 PDAC (8.3%) were detected in 218 mutation carriers. In this report, we describe two CDKN2A-p16-Leiden patients with a synchronous and metachronous PDAC. Including two previously-reported cases, we identified four patients with multiple PDAC: two of 18 patients within the surveillance program (11%) and two patients with a proven CDKN2A-p16-Leiden mutation not participating in the surveillance program. In conclusion, this study demonstrated a high risk of developing multiple PDAC in CDKN2A-p16-Leiden mutation carriers. After detecting a primary tumor, it is very important to exclude the presence of a second synchronous tumor. Moreover, after a partial pancreatectomy for PDAC, close surveillance is necessary. In view of the current findings, offering a ...Continue Reading

References

Oct 28, 2008·Human Mutation·Sharon E PlonUNKNOWN IARC Unclassified Genetic Variants Working Group
Dec 7, 2010·Gastroenterology·Hans F A VasenWouter H de Vos tot Nederveen Cappel
Jun 6, 2012·Nature Reviews. Gastroenterology & Hepatology·Detlef K BartschPeter Langer
Dec 19, 2013·HPB : the Official Journal of the International Hepato Pancreato Biliary Association·Keith J RobertsDarius F Mirza
Feb 5, 2014·Nature Reviews. Clinical Oncology·Steven A Narod
Oct 31, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·David B ZhenGloria M Petersen
Apr 27, 2016·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Hans VasenDetlef K Bartsch
Sep 28, 2016·Journal of Clinical Pathology·Babs G Sibinga MulderHans Morreau

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Citations

Jun 4, 2020·Cells·Chameera Ekanayake WeeramangeChamindie Punyadeera
Jul 25, 2020·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Elizabeth D ThompsonRalph H Hruban

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Methods Mentioned

BETA
pancreatectomy
biopsy

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