Magnetic Resonance Imaging Surveillance Detects Early-Stage Pancreatic Cancer in Carriers of a p16-Leiden Mutation

Vasen, Hans F. A.; Wasser, Martin; Mil, Anneke van; Tollenaar, Rob A.E.M.; Konstantinovski, Marja; Gruis, Nelleke A.; Bergman, Wilma; Hes, Frederik J.; Hommes, Daniël W.; Offerhaus, G. Johan A.; Morreau, Hans; Bonsing, Bert A.; Cappel, Wouter H. de Vos tot Nederveen

doi:10.1053/j.gastro.2010.11.048

Cited by 147 publications

(138 citation statements)

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“…Identification of these cases should allow for focused screening in high‐risk populations. Several initial screening studies using magnetic resonance imaging (MRI) or endoscopic ultrasonography (EUS) have been carried out in cases with genetic risk factors and syndromes, demonstrating some initial potential in identifying PC and premalignant lesions with malignant potential 40, 41, 42. In 2016, these hereditary diseases will be newly added to risk factors for PC in the revised CGL issued by JPS Working Group (Table 3).…”

Section: Risk Factors and Early Diagnosismentioning

confidence: 99%

Early diagnosis of pancreatic cancer: Current trends and concerns

Hanada

Amano

Abe

2017

Annals of Gastroent Surgery

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Early detection of pancreatic cancer (PC) is essential for a better prognosis. Some recent studies have demonstrated that a slight dilatation of the main pancreatic duct (MPD) and small cystic lesions were detected initially in most cases diagnosed at an early stage. Detecting these abnormal findings in cases with high risk factors through an effective screening system including image diagnosis, some biological markers, or familial cancer registrations should contribute to early diagnosis of PC. It has been reported that endoscopic ultrasonography (EUS) is essential for detecting tumors <10 mm with a favorable prognosis. Additionally, EUS‐guided fine‐needle aspiration biopsy is useful for confirming final histological diagnosis. For the diagnosis of stage 0 PC, local irregular stenosis of MPD should be an important initial abnormal sign detected by EUS or magnetic resonance cholangiopancreatography. Cytodiagnosis multiple times using pancreatic juice obtained by endoscopic nasopancreatic drainage should be essential for the final diagnosis. Recently, activities of regional networks between specialist doctors in medical centers and general practitioners for early diagnosis of PC have been reported in Japan. In the future, these activities may play an important role in the early diagnosis of PC.

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Section: Risk Factors and Early Diagnosismentioning

confidence: 99%

Early diagnosis of pancreatic cancer: Current trends and concerns

Hanada

Amano

Abe

2017

Annals of Gastroent Surgery

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“…Pancreatic cancer surveillance may improve survival, as most tumours are detected in a resectable stage. 5 In view of the increased risk of head and neck tumours (including tumours of the larynx), patients should be advised to contact their doctor if they have complaints of hoarseness, dysphagia or ulcers in the mouth or throat. A low threshold for reference to an otolaryngologist should be advocated.…”

Section: Discussionmentioning

confidence: 99%

“…5 A complete medical history was obtained at the start of the surveillance study. Following this first visit, patients revisited the gastroenterologist annually, at which point the occurrence of new cancers or other diseases was assessed.…”

Section: Patient Cohortmentioning

confidence: 99%

“…Since then a large cohort of patients is under pancreatic surveillance. 5 Several studies reported an increased risk of tumours other than melanoma and pancreatic cancers for various CDKN2A germline variants. [6][7][8][9][10] However, these studies have used a variety of methodological approaches and some have been limited by inclusion of heterogeneous groups or by failure to determine individual mutation status.…”

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confidence: 99%

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Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant

et al. 2014

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The p16-Leiden germline variant in the CDKN2A gene is associated with a high risk of melanoma and pancreatic cancer. The aims of this study were to assess the risk of developing other cancers and to determine whether tobacco use would alter cancer risk in carriers of such a variant. We therefore prospectively evaluated individuals with a p16-Leiden germline variant, participating in a pancreatic surveillance programme, for the occurrence of cancer (n = 150). Tobacco use was assessed at the start of the surveillance programme. We found a significantly increased risk for melanoma (relative risk (RR) 41.3; 95% confidence interval (CI) 22.9-74.6) and pancreatic cancer (RR 80.8;. In addition, increased risks were found for cancers of the lip, mouth and pharynx (RR 18.8;.2) and respiratory tumours (RR 4.56; 95% CI 1.71-12.1). Current smokers developed significantly more cancers of the lip, mouth and pharynx, respiratory system and pancreas compared with former and never-smokers. In conclusion, this study shows that carriers of a p16-Leiden variant have an increased risk of developing various types of cancer, and smoking significantly increases the risk of frequently occurring cancers. Smoking cessation should be an integral part of the management of p16-Leiden variant carriers. European Journal of Human Genetics (2015) 23, 711-714; doi:10.1038/ejhg.2014; published online 17 September 2014 INTRODUCTIONFamilial atypical multiple mole melanoma (FAMMM) syndrome is an autosomal dominant tumour syndrome characterized by the development of melanoma and dysplastic naevi of the skin. Up to 40% of FAMMM families harbour a germline variant in the CDKN2A gene, making it the most frequently involved gene in FAMMM syndrome. 1 More than 65 different variants in the CDKN2A gene have been identified worldwide. 2 In the Netherlands, the p16-Leiden variant, a 19-base-pair deletion (c.225_243del19; RefSeq NM_000077.4), is the most common CDKN2A germline variant. 3 In a previous study, 4 we demonstrated that carriers of such a variant have an increased risk of developing pancreatic cancer (15-20% lifetime risk). Since then a large cohort of patients is under pancreatic surveillance. 5 Several studies reported an increased risk of tumours other than melanoma and pancreatic cancers for various CDKN2A germline variants. [6][7][8][9][10] However, these studies have used a variety of methodological approaches and some have been limited by inclusion of heterogeneous groups or by failure to determine individual mutation status. In addition, the influence of environmental factors (for example, smoking) on the phenotypic variability in FAMMM syndrome is yet to be elucidated.In the present study, we analysed the prospective risk of cancer in a unique cohort of individuals with the same CDKN2A germline variant (p16-Leiden). In addition, we examined the association between a personal history of smoking and the development of cancer. PATIENTS AND METHODS Patient cohortIndividuals were included in this study on the basis of carrier status for the p16-L...

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“…Poley et al [17] observed asymptomatic PC in three patients (7 %), including one patient with stage I PC, and IPMN-like lesions in six patients (16 %) using EUS in a heterogeneous group of 44 individuals at high risk of PC. During surveillance of 73 p16 Leiden mutation carriers via magnetic resonance imaging (MRI) and magnetic resonance cholangiopancreatography (MRCP), with a median follow-up period of 4 years, precursor lesions were observed in nine patients and PC was observed in seven patients, including four patients with tumors smaller than 20 mm [18]. An effective screening strategy for the high-risk groups should be published.…”

Section: Surveillance Of High-risk Groupsmentioning

confidence: 99%