Pancreatic cancer screening in high-risk individuals with germline genetic mutations

DaVee, Tomas; Coronel, Emmanuel; Papafragkakis, Charilaos; Thaiudom, Sayam; Lanke, Gandhi; Chakinala, Raja Chandra; González, Graciela M. Nogueras; Bhutani, Manoop S.; Ross, William A.; Weston, Brian; Lee, Jeffrey H.

doi:10.1016/j.gie.2017.12.019

Cited by 51 publications

(45 citation statements)

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“…the induction of apoptosis or blockage of proliferation [45]. Li-Fraumeni syndrome with TP53 mutations is autosomal dominant with a life time increased risk for pancreatic cancer of around 5-8% [25,46]. p53 is called the guardian of genome because of its role as a transcription factor in cell survival and death [47].…”

Section: Genes Syndromes and Risk Factorsmentioning

confidence: 99%

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Familial Pancreatic Cancer

Benzel

Fendrich

2018

Oncol Res Treat

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Familial pancreatic cancer accounts for 10% of all patients with pancreatic cancer. Because the 5-year survival rate of pancreatic cancer is only 7%, screening programs for high-risk individuals are essential and might be advantageous. Pancreatic ductal adenocarcinoma mostly shows symptoms at an advanced state and treatment is not efficient enough to cure most patients. People with hereditary tumor syndromes or their affected relatives can also be included in such screening programs. Besides the collection of data to investigate the background of the disease, these screening programs aim to diagnose and treat precursor lesions so that more dangerous, invasive lesions are prevented. These precursor lesions can be pancreatic intraepithelial neoplasia, intraductal papillary mucinous neoplasm, and mucinous cystic neoplasm. This review summarizes the latest knowledge of pancreatic screening programs, shows the procedure of pancreatic cancer screening, and gives an overview of current guidelines.

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Section: Genes Syndromes and Risk Factorsmentioning

confidence: 99%

“…EUS and MRI are better options compared to CT [91]. EUS is advantageous because it is able to detect lesions of < 1 cm depending on the operator's experiences [19,46]. EUS fine needle aspiration cytology (EUS-FNAC) is useful for investigating abnormal areas with high accuracy [25].…”

Section: Procedures Of Screeningmentioning

confidence: 99%

Familial Pancreatic Cancer

Benzel

Fendrich

2018

Oncol Res Treat

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“…6 Similarly, targeting screening of high-risk individuals (known mutations, family history, associated medical conditions) have also similarly failed to demonstrate any benefit. 7 Finally, although the current modalities that exist in terms of investigating suspicious lesions (endoscopic ultrasound [EUS], computed tomography [CT], magnetic resonance imaging [MRI]) are rapidly improving, they are still not ideal for average-risk screening. 8 Unfortunately, the lack of screening and tools has led to the low rate of early diagnosis of tumors.…”

Section: Introductionmentioning

confidence: 99%

Preoperative biliary drainage for pancreatic cancer

Ahmed

Lee

2018

Int J Gastrointest Interv

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Pancreatic cancer is a leading cause of cancer-related morbidity and mortality, but any meaningful improvement in its prognosis remains elusive. The lack of early diagnostic methods means that many patients only present when symptoms develop, such as obstructive jaundice. Once a diagnosis of pancreatic cancer has been made in a patient with obstructive jaundice, then a decision should be made if the patient is a candidate for surgical resection. Patients who are candidates for surgical resection generally do not need preoperative biliary drainage, unless they present with cholangitis, or if they require neo-adjuvant chemotherapy. If preoperative biliary drainage is to be done, then patient factors and local expertise should guide appropriate interventions. The evidence for endoscopic retrograde cholangiopancreatography as a first-line therapy for biliary decompression is strong; However, the use of percutaneous transhepatic biliary drainage as well as endoscopic ultrasound-guided biliary drainage has generally not been found to be inferior. Finally, to ensure ongoing patency and minimize complications, an appropriate self-expanding metal stent should ideally be placed.

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“…In a recent retrospective study, to which Zhu et al [1] had access but did not cite (see Table 1), not one of the 23 out of 87 patients carrying an inherited mutation associated with an increased risk of PC who underwent endoscopic ultrasound, magnetic resonance imaging, or computed tomography, and were found to have an abnormality, developed PC on follow-up of 21.7–43.5 months [18]. Patients with CDKN2A variants were not included in DaVee et al’s study [18].…”

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confidence: 99%

“…Patients with CDKN2A variants were not included in DaVee et al’s study [18]. In an accompanying editorial, Bruno [12] (who is cited by Zhu et al [1] for another reason [see Table 1]) points out that pancreatic abnormalities of the type seen by DaVee et al [18] are found in patients without genetic predispositions, and without PC, at higher frequency than those reported in carriers by DaVee et al Bruno concludes, “(A)s long as there is no proof of benefit and there is the potential of harm, [surveillance] for pancreatic cancer should not be undertaken outside a research program” [12]. We do not know whether the findings would have been different had patients with the CDKN2A variant been included in DaVee et al’s study [18].…”

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confidence: 99%