Molecular Diagnosis of Cystic Neoplasms of the Pancreas: a Review

Chen, J C; Beal, Eliza W.; Pawlik, Timothy M.; Cloyd, Jordan M.; Dillhoff, Mary

doi:10.1007/s11605-020-04537-2

Cited by 8 publications

(6 citation statements)

References 112 publications

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“…The lifetime risk of PDAC is about 1% for BRCA1 and 4.9% for BRCA2 PV/LPVs carriers [ 30 ], and studies by the Breast Cancer Linkage Consortium reported a 2.3-fold and 3.5-fold increased risk of PDAC in carriers of BRCA1- and BRCA2 -altered variants, respectively [ 14 ]. In addition, a few studies analyzed the prevalence and clinical features of pancreatic cystic lesions in a BRCA -tested population in order to establish the risk of pancreatic cysts and cyst-associated cancer, which could have important implications in the context of increasingly accessible genetic testing [ 31 , 32 , 33 ], but there were significant limitations. The use of next-generation-sequencing (NGS)-based technologies is becoming a new gold standard for determining molecular predictive biomarkers and reliable data on the detection of multiple pathogenic variants, allowing for the screening of thousands of affected individuals [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

Zampiga

Cangini

Bandini

et al. 2023

Cancers

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PVs and LPVs in BRCA1/2 genes are correlated to a high risk of developing breast cancer and/or ovarian cancer (Hereditary Breast and Ovarian Cancer syndrome, HBOC); additionally, in recent years, an increasing number of BRCA 1/2 variants have been identified and associated with pancreatic cancer. Epidemiologic studies have highlighted that inherited factors are involved in 10% to 20% of PCs, mainly through deleterious variants of BRCA2. The frequency of BRCA1/2 germline alterations fluctuates quite a lot among different ethnic groups, and the estimated rate of PVs/LPVs variants in Italian HBOC families is not very accurate, according to different reports. The aim of our study is to describe the prevalence of a BRCA2 PV observed in a selected cohort of HBOC patients and their relatives, whose common origin is the eastern coast of Emilia Romagna, a region of Italy. This study provides insight into the frequency of the variant detected in this area and provides evidence of an increased risk of pancreatic and breast cancer, useful for genetic counseling and surveillance programs.

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Section: Discussionmentioning

confidence: 99%

Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

Zampiga

Cangini

Bandini

et al. 2023

Cancers

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“…This exercise involves the use of cross-sectional imaging, but also endoscopic ultrasound (EUS) for better imaging detail as well as fine-needle aspiration (FNA) for pancreatic cyst fluid (PCF) analysis with evaluation of biochemical markers in cyst fluid, 6 cytological examination, and more recently molecular analysis. [7][8][9][10] Whereas in the past most cystic tumors of the pancreas were resected, the converse is now true. Even though pancreatic surgery has become increasingly safe and now has mortality rates of < 2% in specialized centers, 11,12 it can still be fraught with postoperative complications and has the long-term consequences of diabetes and exocrine insufficiency.…”

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confidence: 99%

“Evolving Trends in Pancreatic Cystic Tumors: A 3-Decade Single-Center Experience With 1290 Resections”

et al. 2021

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The aim of this study was to describe our institutional experience with resected cystic tumors of the pancreas with emphasis on changes in clinical presentation and accuracy of preoperative diagnosis. Summary Background Data: Incidental discovery of pancreatic cystic lesions has increased and has led to a rise in pancreatic resections. It is important to analyze surgical outcomes from these procedures, and the prevalence of malignancy, pre-malignancy and resections for purely benign lesions, some of which may be unintended. Methods: Retrospective review of a prospective database spanning 3 decades. Presence of symptoms, incidental discovery, diagnostic studies, type of surgery, postoperative outcomes, and concordance between presumptive diagnosis and final histopathology were recorded. Results: A total of 1290 patients were identified, 62% female with mean age of 60 years. Fifty-seven percent of tumors were incidentally discovered. Ninety-day operative mortality was 0.9% and major morbidity 14.4%. There were 23 different diagnosis, but IPMN, MCN, and serous cystadenoma comprised 80% of cases. Concordance between preoperative and final histopathological diagnosis increased by decade from 45%, to 68%, and is presently 80%, rising in parallel with the use of endoscopic ultrasound, cytology, and molecular analysis. The addition of molecular analysis improved accuracy to 91%. Of misdiagnosed cases, half were purely benign and taken to surgery with the presumption of malignancy or premalignancy. The majority of these were serous cystadenomas. Conclusions: Indications and diagnostic work-up of cystic tumors of the pancreas have changed over time. Surgical resection can be performed with very low mortality and acceptable morbidity and diagnostic accuracy is presently 80%. About 10% of patients are still undergoing surgery for purely benign lesions that were presumed to be malignant or premalignant. Further refinements in diagnostic tests are required to improve accuracy.

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“…The European and IAP/Fukuoka guidelines addressed this, in part, as these recommendations provided PCL subtype-specific recommendations and stratified concerning features by type of cyst. The evolution of advanced diagnostic tools, such as cyst fluid next-generation sequencing and EUS-guided needle-based confocal laser endomicroscopy, may augment current algorithms to specify cyst type and define malignancy potential based on cyst-specific information rather than more general imaging or EUS-based high-risk features …”

Section: Discussionmentioning

confidence: 99%

Comparison of Society Guidelines for the Management and Surveillance of Pancreatic Cysts

et al. 2022

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There are 5 main guidelines related to the management of PCLs: the American Gastrointestinal Association (AGA) guidelines, the American College of Gastroenterology (ACG) guidelines, the American College of Radiology (ACR) recommendations, the European evidence-based guidelines, and the International Association of Pancreatology (IAP)/Fukuoka guidelines. These guidelines are based on retrospective studies that do not account or control for most tumor-and patient-specific factors. These guidelines also vary in scope, recommendations for surgical resection vs surveillance, as well as duration and type of follow-up.CONCLUSIONS AND RELEVANCE PCL guidelines should be viewed within the context of the data limitations on which they are based. PCL subtype-specific guidelines on surveillance and treatment are needed. In the future, the integration of cyst-specific genomic analysis, as well as evolutions in advanced diagnostic tools, such as cyst fluid next-generation sequencing and EUS-guided confocal laser endomicroscopy, may also better inform treatment guidelines. Owing to the current low-quality evidence on which many guidelines are based and the inherent morbidity of pancreas surgery, it is imperative that patients with PCLs are referred to institutions with advanced diagnostics and a multidisciplinary approach to patient surveillance and management.

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Molecular Diagnosis of Cystic Neoplasms of the Pancreas: a Review

Cited by 8 publications

References 112 publications

Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

“Evolving Trends in Pancreatic Cystic Tumors: A 3-Decade Single-Center Experience With 1290 Resections”

Comparison of Society Guidelines for the Management and Surveillance of Pancreatic Cysts

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