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Jin D, Khan NU, Gu W, Lei H, Goel A, Chen T. Informatics strategies for early detection and risk mitigation in pancreatic cancer patients. Neoplasia 2025; 60:101129. [PMID: 39842383 PMCID: PMC11763847 DOI: 10.1016/j.neo.2025.101129] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/07/2024] [Revised: 01/17/2025] [Accepted: 01/17/2025] [Indexed: 01/24/2025]
Abstract
This review provides a comprehensive overview of the current landscape in pancreatic cancer (PC) screening, diagnosis, and early detection. This emphasizes the need for targeted screening in high-risk groups, particularly those with familial predispositions and genetic mutations, such as BRCA1, BRCA2, and PALB2. This review highlights the sporadic nature of most PC cases and significant risk factors, including smoking, alcohol consumption, obesity, and diabetes. Advanced imaging techniques, such as Endoscopic Ultrasound (EUS) and Contrast-Enhanced Harmonic Imaging (CEH-EUS), have been discussed for their superior sensitivity in early detection. This review also explores the potential of novel biomarkers, including those found in body fluids, such as serum, plasma, urine, and bile, as well as the emerging role of liquid biopsy technologies in analyzing circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), and exosomes. AI-driven approaches, such as those employed in Project Felix and CancerSEEK, have been highlighted for their potential to enhance early detection through deep learning and biomarker discovery. This review underscores the importance of universal genetic testing and the integration of AI with traditional diagnostic methods to improve outcomes in high-risk individuals. Additionally, this review points to future directions in PC diagnostics, including next-generation imaging, molecular biomarkers, and personalized medicine, aiming to overcome current diagnostic challenges and improve survival rates. Ultimately, the review advocates the adoption of informatics and AI-driven strategies to enhance early detection, reduce morbidity, and save lives in the fight against pancreatic cancer.
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Affiliation(s)
- Di Jin
- Department of Cancer Prevention, Zhejiang Cancer Hospital, Hangzhou 310022, China; Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, 310018, China; Zhejiang Chinese Medical University, Hangzhou 310053, China.
| | - Najeeb Ullah Khan
- Institute of Biotechnology & Genetic Engineering (Health Division), The University of Agriculture Peshawar, Peshawar, PO Box 25130, Pakistan.
| | - Wei Gu
- Department of Cancer Prevention, Zhejiang Cancer Hospital, Hangzhou 310022, China; Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, 310018, China; Wenzhou Medical University, Wenzhou, 325000, China.
| | - Huijun Lei
- Department of Cancer Prevention, Zhejiang Cancer Hospital, Hangzhou 310022, China; Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, 310018, China.
| | - Ajay Goel
- Department of Molecular Diagnostics and Experimental Therapeutics, Beckman Research Institute of City of Hope, Biomedical Research Center, Monrovia, California, USA; City of Hope Comprehensive Cancer Center, Duarte, CA, USA.
| | - Tianhui Chen
- Department of Cancer Prevention, Zhejiang Cancer Hospital, Hangzhou 310022, China; Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, 310018, China.
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Shah Y, Dahiya DS, Tiwari A, Kumar H, Gangwani MK, Ali H, Hayat U, Alsakarneh S, Singh S, Malik S, Sohail AH, Chandan S, Ali MA, Inamdar S. Advancements in Early Detection and Screening Strategies for Pancreatic Cancer: From Genetic Susceptibility to Novel Biomarkers. J Clin Med 2024; 13:4706. [PMID: 39200847 PMCID: PMC11355237 DOI: 10.3390/jcm13164706] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/25/2024] [Revised: 08/05/2024] [Accepted: 08/08/2024] [Indexed: 09/02/2024] Open
Abstract
Pancreatic cancer is a rare but lethal cancer due to its biologically aggressive nature, advanced stage at the time of diagnosis, and poor response to oncologic therapies. The risk of pancreatic cancer is significantly higher to 5% in certain high-risk individuals with inherited genetic susceptibility. Screening for pancreatic cancer in these individuals from high-risk groups can help with the early detection of pancreatic cancer as well as the detection of precursor lesions leading to early surgical resection and improved overall outcomes. The advancements in radiological imaging as well as advanced endoscopic procedures has made a significant impact on the early diagnosis, surveillance, and staging of pancreatic cancer. There is also a significant advancement in the development of biomarkers for the early detection of pancreatic cancer, which has also led to the development of liquid biopsy, allowing for microRNA detection in serum and circulating tumor cells. Various societies and organizations have provided guidelines for pancreatic cancer screening and surveillance in high-risk individuals. In this review, we aim to discuss the hereditary risk factors for developing pancreatic cancer, summarize the screening recommendations by different societies, and discuss the development of novel biomarkers and areas for future research in pancreatic cancer screening for high-risk individuals.
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Affiliation(s)
- Yash Shah
- Department of Internal Medicine, Trinity Health Oakland/Wayne State University, Pontiac, MI 48341, USA
| | - Dushyant Singh Dahiya
- Division of Gastroenterology, Hepatology & Motility, The University of Kansas School of Medicine, Kansas City, KS 66160, USA
| | - Angad Tiwari
- Department of Internal Medicine, Maharani Laxmi Bai Medical College, Jhansi 284001, Uttar Pradesh, India
| | - Harendra Kumar
- Department of Internal Medicine, Dow University of Health Sciences, Karachi 74200, Pakistan
| | - Manesh Kumar Gangwani
- Department of Gastroenterology and Hepatology, University of Arkansas For Medical Sciences, Little Rock, AR 72205, USA
| | - Hassam Ali
- Division of Gastroenterology, Hepatology & Nutrition, East Carolina University/Brody School of Medicine, Greenville, NC 27834, USA
| | - Umar Hayat
- Department of Internal Medicine, Geisinger Wyoming Valley Medical Center, Wilkes Barre, PA 18711, USA
| | - Saqr Alsakarneh
- Department of Internal Medicine, University of Missouri-Kansas City, Kansas City, MO 64110, USA
| | - Sahib Singh
- Department of Internal Medicine, Sinai Hospital, Baltimore, MD 21215, USA
| | - Sheza Malik
- Department of Internal Medicine, Rochester General Hospital, Rochester, NY 14621, USA
| | - Amir H. Sohail
- Department of Surgery, University of New Mexico, Albuquerque, NM 87131, USA
| | - Saurabh Chandan
- Center for Interventional Endoscopy (CIE), Advent Health, Orlando, FL 32803, USA
| | - Meer A. Ali
- Department of Gastroenterology and Hepatology, University of Arkansas For Medical Sciences, Little Rock, AR 72205, USA
| | - Sumant Inamdar
- Department of Gastroenterology and Hepatology, University of Arkansas For Medical Sciences, Little Rock, AR 72205, USA
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Kazemi-Harikandei SZ, Karimi A, Tavangar SM. Clinical Perspectives on the Histomolecular Features of the Pancreatic Precursor Lesions: A Narrative Review. Middle East J Dig Dis 2024; 16:136-146. [PMID: 39386334 PMCID: PMC11459284 DOI: 10.34172/mejdd.2024.387] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/20/2023] [Accepted: 06/07/2024] [Indexed: 10/12/2024] Open
Abstract
Pancreatic cancer (PC) is a lethal cancer with poor prognoses. Identifying and characterizing pancreatic cystic lesions (PCLs) in the early detection and follow-up plans is thought to help detect pancreatic malignancy. Besides, the molecular features of PCLs are thought to unravel potentials for targeted therapies. We present a narrative review of the existing literature on the role of PCLs in the early detection, risk stratification, and medical management of PC. High-grade intraductal papillary mucinous neoplasms (IPMN) and pancreatic intraepithelial neoplasia (PanIN) stage III are high-risk lesions for developing PC. These lesions often require thorough histomolecular characterization using endoscopic ultrasound (EUS), before a surgical decision is made. EUS is also useful in the risk assessment of PCLs with tentative plans-for instance, in branch-duct IPMNs (BD-IPMN)- where the final decision might change. Besides the operative decisions, recent improvements in the application of targeted therapies are expected to improve survival measures. Knowledge of molecular features has helped develop targeted therapies. In summary, the histomolecular characterization of PCLs is helpful in optimizing management plans in PC. Further improvements are still needed for the broad application of this knowledge in the clinical setting.
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Affiliation(s)
| | - Amirali Karimi
- School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
| | - Seyed Mohammad Tavangar
- Department of Pathology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
- Chronic Diseases Research Center, Endocrinology and Metabolism Population Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
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Waleleng BJ, Adiwinata R, Wenas NT, Haroen H, Rotty L, Gosal F, Rotty L, Winarta J, Waleleng A, Simadibrata M. Screening of pancreatic cancer: Target population, optimal timing and how? Ann Med Surg (Lond) 2022; 84:104814. [PMID: 36582884 PMCID: PMC9793126 DOI: 10.1016/j.amsu.2022.104814] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/31/2022] [Revised: 09/26/2022] [Accepted: 10/30/2022] [Indexed: 11/08/2022] Open
Abstract
Pancreatic cancer patients usually present at a late stage due to subtle clinical manifestations. One of the most predictive prognostic factors in pancreatic cancer is the pancreatic cancer stage at diagnosis; therefore, early diagnosis is essential. Until now, pancreatic cancer screening has not become a standard practice for the general population due to the low incidence. In current circumstances, targeting individuals with a high risk of pancreatic cancer may be more rational. Several screening modalities for pancreatic cancer have also become debatable topics. Therefore, this article will review current evidence and recommendations regarding pancreatic screening cancer protocol in general and in high-risk populations.
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Affiliation(s)
- Bradley Jimmy Waleleng
- Division of Gastroenterology-Hepatology, Department of Internal Medicine, Faculty of Medicine, Universitas Sam Ratulangi/Prof. dr. R. D. Kandou Hospital, Manado, Indonesia
| | - Randy Adiwinata
- Department of Internal Medicine, Faculty of Medicine, Universitas Sam Ratulangi/Prof. dr. R. D. Kandou Hospital, Manado, Indonesia
| | - Nelly Tendean Wenas
- Division of Gastroenterology-Hepatology, Department of Internal Medicine, Faculty of Medicine, Universitas Sam Ratulangi/Prof. dr. R. D. Kandou Hospital, Manado, Indonesia
| | - Harlinda Haroen
- Division of Hematology and Medical Oncology, Department of Internal Medicine, Faculty of Medicine, Universitas Sam Ratulangi/Prof. dr. R. D. Kandou Hospital, Manado, Indonesia
| | - Linda Rotty
- Division of Hematology and Medical Oncology, Department of Internal Medicine, Faculty of Medicine, Universitas Sam Ratulangi/Prof. dr. R. D. Kandou Hospital, Manado, Indonesia
| | - Fandy Gosal
- Division of Gastroenterology-Hepatology, Department of Internal Medicine, Faculty of Medicine, Universitas Sam Ratulangi/Prof. dr. R. D. Kandou Hospital, Manado, Indonesia
| | - Luciana Rotty
- Division of Gastroenterology-Hepatology, Department of Internal Medicine, Faculty of Medicine, Universitas Sam Ratulangi/Prof. dr. R. D. Kandou Hospital, Manado, Indonesia
| | - Jeanne Winarta
- Division of Gastroenterology-Hepatology, Department of Internal Medicine, Faculty of Medicine, Universitas Sam Ratulangi/Prof. dr. R. D. Kandou Hospital, Manado, Indonesia
| | - Andrew Waleleng
- Division of Gastroenterology-Hepatology, Department of Internal Medicine, Faculty of Medicine, Universitas Sam Ratulangi/Prof. dr. R. D. Kandou Hospital, Manado, Indonesia
| | - Marcellus Simadibrata
- Division of Gastroenterology, Pancreatobiliary and Digestive Endoscopy, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo General Hospital, Jakarta, Indonesia
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Astore C, Zhou H, Ilkowski B, Forness J, Skolnick J. LeMeDISCO is a computational method for large-scale prediction & molecular interpretation of disease comorbidity. Commun Biol 2022; 5:870. [PMID: 36008469 PMCID: PMC9411158 DOI: 10.1038/s42003-022-03816-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/30/2021] [Accepted: 08/08/2022] [Indexed: 11/09/2022] Open
Abstract
To understand the origin of disease comorbidity and to identify the essential proteins and pathways underlying comorbid diseases, we developed LeMeDISCO (Large-Scale Molecular Interpretation of Disease Comorbidity), an algorithm that predicts disease comorbidities from shared mode of action proteins predicted by the artificial intelligence-based MEDICASCY algorithm. LeMeDISCO was applied to predict the occurrence of comorbid diseases for 3608 distinct diseases. Benchmarking shows that LeMeDISCO has much better comorbidity recall than the two molecular methods XD-score (44.5% vs. 6.4%) and the SAB score (68.6% vs. 8.0%). Its performance is somewhat comparable to the phenotype method-based Symptom Similarity Score, 63.7% vs. 100%, but LeMeDISCO works for far more cases and its large comorbidity recall is attributed to shared proteins that can help provide an understanding of the molecular mechanism(s) underlying disease comorbidity. The LeMeDISCO web server is available for academic users at: http://sites.gatech.edu/cssb/LeMeDISCO .
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Affiliation(s)
- Courtney Astore
- Center for the Study of Systems Biology, School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, 30332, USA
| | - Hongyi Zhou
- Center for the Study of Systems Biology, School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, 30332, USA
| | - Bartosz Ilkowski
- Center for the Study of Systems Biology, School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, 30332, USA
| | - Jessica Forness
- Center for the Study of Systems Biology, School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, 30332, USA
| | - Jeffrey Skolnick
- Center for the Study of Systems Biology, School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, 30332, USA.
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Moutinho-Ribeiro P, Batista IA, Quintas ST, Adem B, Silva M, Morais R, Peixoto A, Coelho R, Costa-Moreira P, Medas R, Lopes S, Vilas-Boas F, Baptista M, Dias-Silva D, Esteves AL, Martins F, Lopes J, Barroca H, Carneiro F, Macedo G, Melo SA. Exosomal glypican-1 is elevated in pancreatic cancer precursors and can signal genetic predisposition in the absence of endoscopic ultrasound abnormalities. World J Gastroenterol 2022; 28:4310-4327. [PMID: 36159010 PMCID: PMC9453765 DOI: 10.3748/wjg.v28.i31.4310] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/17/2022] [Revised: 04/30/2022] [Accepted: 06/26/2022] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Individuals within specific risk groups for pancreatic ductal adenocarcinoma (PDAC) [mucinous cystic lesions (MCLs), hereditary risk (HR), and new-late onset diabetes mellitus (NLOD)] represent an opportunity for early cancer detection. Endoscopic ultrasound (EUS) is a premium image modality for PDAC screening and precursor lesion characterization. While no specific biomarker is currently clinically available for this purpose, glypican-1 (GPC1) is overexpressed in the circulating exosomes (crExos) of patients with PDAC compared with healthy subjects or those harboring benign pancreatic diseases.
AIM To evaluate the capacity of GPC1+ crExos to identify individuals at higher risk within these specific groups, all characterized by EUS.
METHODS This cross-sectional study with a prospective unicentric cohort included 88 subjects: 40 patients with MCL, 20 individuals with HR, and 20 patients with NLOD. A control group (CG) was submitted to EUS for other reasons than pancreatic pathology, with normal pancreas and absence of hereditary risk factors (n = 8). The inclusion period was between October 2016 and January 2019, and the study was approved by the Ethics Committee of Centro Hospitalar Universitário de São João, Porto, Portugal. All patients provided written informed consent. EUS and blood tests for quantification of GPC1+ crExos by flow cytometry and carbohydrate antigen 19-9 (CA 19-9) levels by ELISA were performed in all subjects. EUS-guided tissue acquisition was done whenever necessary. For statistical analysis, SPSS® 27.0 (IBM Corp., Armonk, NY, United States) version was used. All graphs were created using GraphPad Prism 7.00 (GraphPad Software, San Diego, CA, United States).
RESULTS Half of MCLs harbored worrisome features (WF) or high-risk stigmata (HRS). Pancreatic abnormalities were detected by EUS in 10.0% and 35.0% in HR and NLOD individuals, respectively, all considered non-malignant and “harmless.” Median levels of GPC1+ crExos were statistically different: MCL [99.4%, interquartile range (IQR): 94.9%-99.8%], HR (82.0%, IQR: 28.9%-98.2%), NLOD (12.6%, IQR: 5.2%-63.4%), and CG (16.2%, IQR: 6.6%-20.1%) (P < 0.0001). Median levels of CA 19-9 were within the normal range in all groups (standard clinical cut-off of 37 U/mL). Within HR, individuals with a positive history of cancer had higher median levels of GPC1+ crExos (97.9%; IQR: 61.7%-99.5%), compared to those without (59.7%; IQR: 26.3%-96.4%), despite no statistical significance (P = 0.21). Pancreatic cysts with WF/HRS were statistically associated with higher median levels of GPC1+ crExos (99.6%; IQR: 97.6%-99.8%) compared to those without (96.5%; IQR: 81.3%-99.5%) (P = 0.011), presenting an area under the receiver operating characteristic curve value of 0.723 (sensitivity 75.0% and specificity 67.7%, using a cut-off of 98.5%; P = 0.012).
CONCLUSION GPC1+ crExos may act as biomarker to support the diagnosis and stratification of PDAC precursor lesions, and in signaling individuals with genetic predisposition in the absence of EUS abnormalities.
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Affiliation(s)
- Pedro Moutinho-Ribeiro
- Serviço de Gastrenterologia, Centro Hospitalar Universitário de São João, Porto 4200, Portugal
- Faculty of Medicine, University of Porto, Porto 4200, Portugal
| | - Ines A Batista
- Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto 4200, Portugal
- IPATIMUP–Institute of Molecular Pathology and Immunology, University of Porto, Porto 4200, Portugal
- Instituto de Ciências Biomédicas Abel Salazar (ICBAS), University of Porto, Porto 4050, Portugal
| | - Sofia T Quintas
- Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto 4200, Portugal
- IPATIMUP–Institute of Molecular Pathology and Immunology, University of Porto, Porto 4200, Portugal
| | - Bárbara Adem
- Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto 4200, Portugal
- Instituto de Ciências Biomédicas Abel Salazar (ICBAS), University of Porto, Porto 4050, Portugal
| | - Marco Silva
- Serviço de Gastrenterologia, Centro Hospitalar Universitário de São João, Porto 4200, Portugal
- Faculty of Medicine, University of Porto, Porto 4200, Portugal
| | - Rui Morais
- Serviço de Gastrenterologia, Centro Hospitalar Universitário de São João, Porto 4200, Portugal
- Faculty of Medicine, University of Porto, Porto 4200, Portugal
| | - Armando Peixoto
- Serviço de Gastrenterologia, Centro Hospitalar Universitário de São João, Porto 4200, Portugal
- Faculty of Medicine, University of Porto, Porto 4200, Portugal
| | - Rosa Coelho
- Serviço de Gastrenterologia, Centro Hospitalar Universitário de São João, Porto 4200, Portugal
- Faculty of Medicine, University of Porto, Porto 4200, Portugal
| | - Pedro Costa-Moreira
- Serviço de Gastrenterologia, Centro Hospitalar Universitário de São João, Porto 4200, Portugal
- Faculty of Medicine, University of Porto, Porto 4200, Portugal
| | - Renato Medas
- Serviço de Gastrenterologia, Centro Hospitalar Universitário de São João, Porto 4200, Portugal
- Faculty of Medicine, University of Porto, Porto 4200, Portugal
| | - Susana Lopes
- Serviço de Gastrenterologia, Centro Hospitalar Universitário de São João, Porto 4200, Portugal
- Faculty of Medicine, University of Porto, Porto 4200, Portugal
| | - Filipe Vilas-Boas
- Serviço de Gastrenterologia, Centro Hospitalar Universitário de São João, Porto 4200, Portugal
- Faculty of Medicine, University of Porto, Porto 4200, Portugal
| | - Manuela Baptista
- Serviço de Cirurgia Geral, Centro Hospitalar Universitário de São João, Porto 4200, Portugal
| | - Diogo Dias-Silva
- Unidade de Saúde Familiar Serpa Pinto, ACeS Porto Ocidental, Porto 4250, Portugal
| | - Ana L Esteves
- Unidade de Saúde Familiar Serpa Pinto, ACeS Porto Ocidental, Porto 4250, Portugal
| | - Filipa Martins
- Unidade de Saúde Familiar Serpa Pinto, ACeS Porto Ocidental, Porto 4250, Portugal
| | - Joanne Lopes
- Serviço de Anatomia Patológica, Centro Hospitalar Universitário de São João, Porto 4200, Portugal
| | - Helena Barroca
- Serviço de Anatomia Patológica, Centro Hospitalar Universitário de São João, Porto 4200, Portugal
| | - Fátima Carneiro
- Faculty of Medicine, University of Porto, Porto 4200, Portugal
- Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto 4200, Portugal
- IPATIMUP–Institute of Molecular Pathology and Immunology, University of Porto, Porto 4200, Portugal
- Serviço de Anatomia Patológica, Centro Hospitalar Universitário de São João, Porto 4200, Portugal
| | - Guilherme Macedo
- Serviço de Gastrenterologia, Centro Hospitalar Universitário de São João, Porto 4200, Portugal
- Faculty of Medicine, University of Porto, Porto 4200, Portugal
| | - Sonia A Melo
- Faculty of Medicine, University of Porto, Porto 4200, Portugal
- Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto 4200, Portugal
- IPATIMUP–Institute of Molecular Pathology and Immunology, University of Porto, Porto 4200, Portugal
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Rustgi SD, Hilfrank KJ, Kastrinos F. Familial Predisposition and Genetic Risk Factors Associated with Pancreatic Cancer. Gastrointest Endosc Clin N Am 2022; 32:1-12. [PMID: 34798979 DOI: 10.1016/j.giec.2021.09.001] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
Abstract
Pancreatic cancer (PC) is a highly lethal cancer and projected to be the second leading cause of cancer death by 2030. Multigene panel testing has facilitated the identification of germline variants associated with an increased risk of PC. Precision treatment has led to improved outcomes for patients with these findings. Because of these improved outcomes as well as the implications for at-risk family members who may benefit from additional cancer screening, the NCCN recommends universal genetic testing for newly diagnosed PC patients. This review describes the most common heritable conditions associated with PC and those who may benefit from screening.
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Affiliation(s)
- Sheila D Rustgi
- Division of Digestive & Liver Diseases, Columbia University Irving Medical Center, 630 West 168th Street, Box 83, Room P&S 3-401, New York, NY 10032, USA
| | - Kimberly J Hilfrank
- Division of Digestive & Liver Diseases, Columbia University Irving Medical Center, 630 West 168th Street, Box 83, Room P&S 3-401, New York, NY 10032, USA
| | - Fay Kastrinos
- Division of Digestive & Liver Diseases, Columbia University Irving Medical Center, 630 West 168th Street, Box 83, Room P&S 3-401, New York, NY 10032, USA.
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Katabathina VS, Buddha S, Rajebi H, Shah JN, Morani AC, Lubner MG, Dasyam A, Nazarullah A, Menias CO, Prasad SR. Pancreas in Hereditary Syndromes: Cross-sectional Imaging Spectrum. Radiographics 2021; 41:1082-1102. [PMID: 34143711 DOI: 10.1148/rg.2021200164] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
Abstract
A wide spectrum of hereditary syndromes predispose patients to distinct pancreatic abnormalities, including cystic lesions, recurrent pancreatitis, ductal adenocarcinoma, nonductal neoplasms, and parenchymal iron deposition. While pancreatic exocrine insufficiency and recurrent pancreatitis are common manifestations in cystic fibrosis and hereditary pancreatitis, pancreatic cysts are seen in von Hippel-Lindau disease, cystic fibrosis, autosomal dominant polycystic kidney disease, and McCune-Albright syndrome. Ductal adenocarcinoma can be seen in many syndromes, including Peutz-Jeghers syndrome, familial atypical multiple mole melanoma syndrome, Lynch syndrome, hereditary breast and ovarian cancer syndrome, Li-Fraumeni syndrome, and familial pancreatic cancer syndrome. Neuroendocrine tumors are commonly seen in multiple endocrine neoplasia type 1 syndrome and von Hippel-Lindau disease. Pancreatoblastoma is an essential component of Beckwith-Wiedemann syndrome. Primary hemochromatosis is characterized by pancreatic iron deposition. Pancreatic pathologic conditions associated with genetic syndromes exhibit characteristic imaging findings. Imaging plays a pivotal role in early detection of these conditions and can positively affect the clinical outcomes of those at risk for pancreatic malignancies. Awareness of the characteristic imaging features, imaging-based screening protocols, and surveillance guidelines is crucial for radiologists to guide appropriate patient management. ©RSNA, 2021.
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Affiliation(s)
- Venkata S Katabathina
- From the Departments of Radiology (V.S.K., S.B., H.R.) and Pathology (A.N.), University of Texas Health at San Antonio, 7703 Floyd Curl Dr, San Antonio, TX 78229; Department of Radiology, Le Bonheur Children's Hospital, Memphis, Tenn (J.N.S.); Department of Radiology, University of Texas M. D. Anderson Cancer Center, Houston, Tex (A.C.M., S.R.P.); Department of Radiology, University of Wisconsin, Madison, Wis (M.G.L.); Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, Pa (A.D.); and Department of Radiology, Mayo Clinic, Scottsdale, Ariz (C.O.M.)
| | - Suryakala Buddha
- From the Departments of Radiology (V.S.K., S.B., H.R.) and Pathology (A.N.), University of Texas Health at San Antonio, 7703 Floyd Curl Dr, San Antonio, TX 78229; Department of Radiology, Le Bonheur Children's Hospital, Memphis, Tenn (J.N.S.); Department of Radiology, University of Texas M. D. Anderson Cancer Center, Houston, Tex (A.C.M., S.R.P.); Department of Radiology, University of Wisconsin, Madison, Wis (M.G.L.); Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, Pa (A.D.); and Department of Radiology, Mayo Clinic, Scottsdale, Ariz (C.O.M.)
| | - Hamid Rajebi
- From the Departments of Radiology (V.S.K., S.B., H.R.) and Pathology (A.N.), University of Texas Health at San Antonio, 7703 Floyd Curl Dr, San Antonio, TX 78229; Department of Radiology, Le Bonheur Children's Hospital, Memphis, Tenn (J.N.S.); Department of Radiology, University of Texas M. D. Anderson Cancer Center, Houston, Tex (A.C.M., S.R.P.); Department of Radiology, University of Wisconsin, Madison, Wis (M.G.L.); Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, Pa (A.D.); and Department of Radiology, Mayo Clinic, Scottsdale, Ariz (C.O.M.)
| | - Jignesh N Shah
- From the Departments of Radiology (V.S.K., S.B., H.R.) and Pathology (A.N.), University of Texas Health at San Antonio, 7703 Floyd Curl Dr, San Antonio, TX 78229; Department of Radiology, Le Bonheur Children's Hospital, Memphis, Tenn (J.N.S.); Department of Radiology, University of Texas M. D. Anderson Cancer Center, Houston, Tex (A.C.M., S.R.P.); Department of Radiology, University of Wisconsin, Madison, Wis (M.G.L.); Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, Pa (A.D.); and Department of Radiology, Mayo Clinic, Scottsdale, Ariz (C.O.M.)
| | - Ajay C Morani
- From the Departments of Radiology (V.S.K., S.B., H.R.) and Pathology (A.N.), University of Texas Health at San Antonio, 7703 Floyd Curl Dr, San Antonio, TX 78229; Department of Radiology, Le Bonheur Children's Hospital, Memphis, Tenn (J.N.S.); Department of Radiology, University of Texas M. D. Anderson Cancer Center, Houston, Tex (A.C.M., S.R.P.); Department of Radiology, University of Wisconsin, Madison, Wis (M.G.L.); Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, Pa (A.D.); and Department of Radiology, Mayo Clinic, Scottsdale, Ariz (C.O.M.)
| | - Meghan G Lubner
- From the Departments of Radiology (V.S.K., S.B., H.R.) and Pathology (A.N.), University of Texas Health at San Antonio, 7703 Floyd Curl Dr, San Antonio, TX 78229; Department of Radiology, Le Bonheur Children's Hospital, Memphis, Tenn (J.N.S.); Department of Radiology, University of Texas M. D. Anderson Cancer Center, Houston, Tex (A.C.M., S.R.P.); Department of Radiology, University of Wisconsin, Madison, Wis (M.G.L.); Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, Pa (A.D.); and Department of Radiology, Mayo Clinic, Scottsdale, Ariz (C.O.M.)
| | - Anil Dasyam
- From the Departments of Radiology (V.S.K., S.B., H.R.) and Pathology (A.N.), University of Texas Health at San Antonio, 7703 Floyd Curl Dr, San Antonio, TX 78229; Department of Radiology, Le Bonheur Children's Hospital, Memphis, Tenn (J.N.S.); Department of Radiology, University of Texas M. D. Anderson Cancer Center, Houston, Tex (A.C.M., S.R.P.); Department of Radiology, University of Wisconsin, Madison, Wis (M.G.L.); Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, Pa (A.D.); and Department of Radiology, Mayo Clinic, Scottsdale, Ariz (C.O.M.)
| | - Alia Nazarullah
- From the Departments of Radiology (V.S.K., S.B., H.R.) and Pathology (A.N.), University of Texas Health at San Antonio, 7703 Floyd Curl Dr, San Antonio, TX 78229; Department of Radiology, Le Bonheur Children's Hospital, Memphis, Tenn (J.N.S.); Department of Radiology, University of Texas M. D. Anderson Cancer Center, Houston, Tex (A.C.M., S.R.P.); Department of Radiology, University of Wisconsin, Madison, Wis (M.G.L.); Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, Pa (A.D.); and Department of Radiology, Mayo Clinic, Scottsdale, Ariz (C.O.M.)
| | - Christine O Menias
- From the Departments of Radiology (V.S.K., S.B., H.R.) and Pathology (A.N.), University of Texas Health at San Antonio, 7703 Floyd Curl Dr, San Antonio, TX 78229; Department of Radiology, Le Bonheur Children's Hospital, Memphis, Tenn (J.N.S.); Department of Radiology, University of Texas M. D. Anderson Cancer Center, Houston, Tex (A.C.M., S.R.P.); Department of Radiology, University of Wisconsin, Madison, Wis (M.G.L.); Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, Pa (A.D.); and Department of Radiology, Mayo Clinic, Scottsdale, Ariz (C.O.M.)
| | - Srinivasa R Prasad
- From the Departments of Radiology (V.S.K., S.B., H.R.) and Pathology (A.N.), University of Texas Health at San Antonio, 7703 Floyd Curl Dr, San Antonio, TX 78229; Department of Radiology, Le Bonheur Children's Hospital, Memphis, Tenn (J.N.S.); Department of Radiology, University of Texas M. D. Anderson Cancer Center, Houston, Tex (A.C.M., S.R.P.); Department of Radiology, University of Wisconsin, Madison, Wis (M.G.L.); Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, Pa (A.D.); and Department of Radiology, Mayo Clinic, Scottsdale, Ariz (C.O.M.)
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9
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Partelli S, Sclafani F, Barbu ST, Beishon M, Bonomo P, Braz G, de Braud F, Brunner T, Cavestro GM, Crul M, Trill MD, Ferollà P, Herrmann K, Karamitopoulou E, Neuzillet C, Orsi F, Seppänen H, Torchio M, Valenti D, Zamboni G, Zins M, Costa A, Poortmans P. European Cancer Organisation Essential Requirements for Quality Cancer Care (ERQCC): Pancreatic Cancer. Cancer Treat Rev 2021; 99:102208. [PMID: 34238640 DOI: 10.1016/j.ctrv.2021.102208] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/22/2020] [Revised: 04/07/2021] [Accepted: 04/09/2021] [Indexed: 12/14/2022]
Abstract
European Cancer Organisation Essential Requirements for Quality Cancer Care (ERQCC) are written by experts representing all disciplines involved in cancer care in Europe. They give patients, health professionals, managers and policymakers a guide to essential care throughout the patient journey. Pancreatic cancer is an increasing cause of cancer mortality and has wide variation in treatment and care in Europe. It is a major healthcare burden and has complex diagnosis and treatment challenges. Care must be carried out only in pancreatic cancer units or centres that have a core multidisciplinary team (MDT) and an extended team of health professionals detailed here. Such units are far from universal in European countries. To meet European aspirations for comprehensive cancer control, healthcare organisations must consider the requirements in this paper, paying particular attention to multidisciplinarity and patient-centred pathways from diagnosis, to treatment, to survivorship.
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Affiliation(s)
- Stefano Partelli
- European Society of Surgical Oncology (ESSO); IRCCS San Raffaele Scientific Institute, Milan, Italy
| | - Francesco Sclafani
- European Organisation for Research and Treatment of Cancer (EORTC); Institut Jules Bordet, Brussels, Belgium
| | - Sorin Traian Barbu
- Pancreatic Cancer Europe (PCE); Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania
| | - Marc Beishon
- Cancer World, European School of Oncology (ESO), Milan, Italy
| | - Pierluigi Bonomo
- Flims Alumni Club (FAC); Careggi University Hospital, Florence, Italy
| | - Graça Braz
- European Oncology Nursing Society (EONS); Portuguese Oncology Institute, Porto, Portugal
| | - Filippo de Braud
- Organisation of European Cancer Institutes (OECI); IRCCS Foundation National Cancer Institute of Milan, Milan, Italy
| | - Thomas Brunner
- European Society for Radiotherapy and Oncology (ESTRO); Otto von Guericke University, Magdeburg, Germany
| | - Giulia Martina Cavestro
- European Hereditary Tumour Group (EHTG); IRCCS San Raffaele Scientific Institute, Milan, Italy
| | - Mirjam Crul
- European Society of Oncology Pharmacy (ESOP); Amsterdam University Medical Centre, Netherlands
| | - Maria Die Trill
- International Psycho-Oncology Society (IPOS); ATRIUM: Psycho-Oncology & Clinical Psychology, Madrid, Spain
| | - Piero Ferollà
- International Neuroendocrine Cancer Alliance (INCA); Umbria Regional Cancer Network, Perugia, Italy
| | - Ken Herrmann
- European Association of Nuclear Medicine (EANM); University Hospital Essen, Essen, Germany
| | - Eva Karamitopoulou
- European Society of Pathology (ESP); Institute of Pathology, University of Bern, Bern, Switzerland
| | - Cindy Neuzillet
- International Society of Geriatric Oncology (SIOG), Institut Curie, Saint-Cloud, France
| | - Franco Orsi
- Cardiovascular and Interventional Radiological Society of Europe (CIRSE); European Institute of Oncology, Milan, Italy
| | - Hanna Seppänen
- Association of European Cancer Leagues (ECL); Helsinki University Hospital, Helsinki, Finland
| | - Martina Torchio
- Organisation of European Cancer Institutes (OECI); IRCCS Foundation National Cancer Institute of Milan, Milan, Italy
| | - Danila Valenti
- European Association for Palliative Care (EAPC); Palliative Care Network, AUSL Bologna, Bologna, Italy
| | - Giulia Zamboni
- European Society of Oncologic Imaging (ESOI); University Hospital Verona, Verona, Italy
| | - Marc Zins
- European Society of Radiology (ESR); Groupe hospitalier Paris Saint-Joseph, Paris, France
| | | | - Philip Poortmans
- European Cancer Organisation (ECCO); Iridium Kankernetwerk and University of Antwerp, Wilrijk-Antwerp, Belgium
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10
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Li HZ, Peng CY, Shen SS, Wang L, Zhang S, Xu GF, Kong B, Friess H, Zou XP, Lv Y. Factors affecting the accuracy of endoscopic ultrasound-guided fine needle aspiration for the diagnosis of small (≤20 mm) pancreatic lesions. J Dig Dis 2020; 21:416-421. [PMID: 32418326 DOI: 10.1111/1751-2980.12875] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/13/2020] [Revised: 05/04/2020] [Accepted: 05/10/2020] [Indexed: 12/11/2022]
Abstract
UNLABELLED To explore the diagnostic value of endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) for small, solid or semi-solid pancreatic lesions (≤20 mm) and the factors affecting its accuracy. METHODS Altogether 92 patients with small, solid or semi-solid pancreatic lesions who underwent EUS-FNA at the Nanjing Drum Tower Hospital from November 2009 to January 2019 were retrospectively analyzed. Univariate and multivariate analyses were used to determine the factors affecting the accuracy of EUS-FNA for detecting these lesions. RESULTS Among the 92 cases, 56 (60.9%) were diagnosed as having malignant lesions and 36 (39.1%) as benign lesions, respectively. The overall sensitivity, specificity and accuracy of EUS-FNA for the diagnosis of small, solid or semi-solid pancreatic lesions were 71.4%, 100% and 82.6%, respectively. When considering the impact of the presence of a tissue core on the diagnosis, the sensitivity, specificity, and accuracy of EUS-FNA with tissue core compared with those based on cytology alone were 77.3% vs 50.0%; 100% vs 100%; and 86.8% vs 62.5%, respectively. The multivariate analysis showed that larger tumor size (>15-20 mm) (odds ratio [OR] 4.200, 95% confidence interval [CI] 1.21-14.53, P = 0.023) and histologic diagnosis based on tissue core (OR 4.593, 95% CI 1.03-20.47, P = 0.046) were related to a higher accuracy of EUS-FNA. Adverse events were observed in three patients, all were treated conservatively and recovered within 3 days. CONCLUSIONS EUS-FNA is effective and safe for diagnosing small pancreatic lesions. Tumor size and presence of tissue core are related to higher accuracy of the EUS-FNA.
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Affiliation(s)
- Hong Zhen Li
- Department of Gastroenterology, Nanjing University Medical School Affiliated Nanjing Drum Tower Hospital, Nanjing, Jiangsu Province, China
| | - Chun Yan Peng
- Department of Gastroenterology, Nanjing University Medical School Affiliated Nanjing Drum Tower Hospital, Nanjing, Jiangsu Province, China
| | - Shan Shan Shen
- Department of Gastroenterology, Nanjing University Medical School Affiliated Nanjing Drum Tower Hospital, Nanjing, Jiangsu Province, China
| | - Lei Wang
- Department of Gastroenterology, Nanjing University Medical School Affiliated Nanjing Drum Tower Hospital, Nanjing, Jiangsu Province, China
| | - Song Zhang
- Department of Gastroenterology, Nanjing University Medical School Affiliated Nanjing Drum Tower Hospital, Nanjing, Jiangsu Province, China
| | - Gui Fang Xu
- Department of Gastroenterology, Nanjing University Medical School Affiliated Nanjing Drum Tower Hospital, Nanjing, Jiangsu Province, China
| | - Bo Kong
- Department of Gastroenterology, Nanjing University Medical School Affiliated Nanjing Drum Tower Hospital, Nanjing, Jiangsu Province, China.,Department of Surgery, Technical University of Munich (TUM), Munich, Germany
| | - Helmut Friess
- Department of Surgery, Technical University of Munich (TUM), Munich, Germany
| | - Xiao Ping Zou
- Department of Gastroenterology, Nanjing University Medical School Affiliated Nanjing Drum Tower Hospital, Nanjing, Jiangsu Province, China
| | - Ying Lv
- Department of Gastroenterology, Nanjing University Medical School Affiliated Nanjing Drum Tower Hospital, Nanjing, Jiangsu Province, China
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