Performance characteristics of molecular (DNA) analysis for the diagnosis of mucinous pancreatic cysts

Al‐Haddad, Mohammad; DeWitt, John M.; Sherman, Stuart; Schmidt, C. Max; Leblanc, Julia K.; McHenry, Lee; Coté, Gregory A.; Chafic, Abdul Hamid El; Luz, Letícia P.; Stuart, Jennifer S.; Johnson, Cynthia S.; Klochan, Christen; Imperiale, Thomas F.

doi:10.1016/j.gie.2013.05.026

Cited by 101 publications

(53 citation statements)

References 29 publications

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“…In a limited number of cases in our study, molecular analysis did not add value to negative or inadequate cytology for identifying malignant behavior in patients with BD-IPMNs, which is consistent with our previous study. 23 Additionally, one recent meta-analysis (41 studies) reported the risk of malignancy associated with individual cyst features in IPMN to include cyst size > 3 cm, presence of a mural nodule, dilatation of the MPD and main vs. branch duct IPMN. 24 The other meta-analysis (23 studies) of imaging features to distinguish malignant and benign BD-IPMNs demonstrated strong association between mural nodules and malignancy, warranting surgical resection whereas cyst size ≥ 3 cm, MPD dilatation (5-9 mm), or thick septum/wall should be managed with careful observation and/or further evaluation.…”

Section: Discussionmentioning

confidence: 99%

Management of branch-duct intraductal papillary mucinous neoplasms: a large single-center study to assess predictors of malignancy and long-term outcomes

Ridtitid

DeWitt

Schmidt

et al. 2016

Gastrointestinal Endoscopy

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Section: Discussionmentioning

confidence: 99%

Management of branch-duct intraductal papillary mucinous neoplasms: a large single-center study to assess predictors of malignancy and long-term outcomes

Ridtitid

DeWitt

Schmidt

et al. 2016

Gastrointestinal Endoscopy

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“…Several studies, including the PANDA study involving multiple centers, evaluated the presence of KRAS mutations or allelic imbalance to discriminate among mucinous and non-mucinous cysts, with poor results (82,83). Interestingly, a more recent study (84) has shown the usefulness of molecular analysis, if combined with cyst fluid cytology and CEA, for identifying mucinous cysts (diagnostic accuracy of 73%) versus the use of molecular analysis alone (diagnostic accuracy of 56%). Moreover, another study also showed optimal results of molecular analysis in characterizing malignancy among mucinous cysts (85).…”

Section: Cyst Fluidmentioning

confidence: 99%

“…Lastly, GNAS mutations (that can also be studied in pancreatic juice) seem to be the most promising molecular marker after a study that showed its presence in up to 64% of patients with IPMN (83)(84)(85)(86). Following these results, GNAS mutations seem to be able to discriminate between IPMNs and MCAs (although their absence does not directly diagnose MCAs, as not all IPMNs express GNAS mutations) but they are not useful to detect malignancy (43).…”

Section: Cyst Fluidmentioning

confidence: 99%

Intraductal papillary mucinous neoplasms and mucinous cystadenomas: current status and recommendations

Moris

Wallace

2017

Rev Esp Enferm Dig

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The real prevalence of pancreatic cystic lesions remains unknown. The malignant potential of some of these lesions remains a cause for significant concern. Thus, it is mandatory to develop a strategy to clearly discriminate those cysts with a potential for malignant transformation from those that do not carry any significant risk. Intraductal papillary mucinous neoplasms and mucinous cystadenomas are mucinous cystic neoplasms with a known malignant potential that have gained greater recognition in recent years. However, despite the numerous studies that have been carried out, their differential diagnosis among other cysts subtypes and their therapeutic approach continue to be a challenge for clinicians. This review contains a critical approach of the current recommendations and management strategies regarding intraductal papillary mucinous neoplasms and mucinous cystadenomas, as well as highlighting the limitations exposed in current guidelines.

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“…The detection of a K-ras mutation was strongly associated with mucinous cysts; furthermore, a combined K-ras and allelic loss showed a specificity of 96% for malignancy [23]. However, a poor agreement between cyst fluid CEA levels and molecular analysis in diagnosing mucinous cysts was shown for the latter, with comparable sensitivities and diagnostic accuracies [24]. …”

Section: Fine Needle Aspirationmentioning

confidence: 99%

The Role of Endoscopic Ultrasound in the Diagnosis of Cystic Lesions of the Pancreas

Lévy

Rebours

2018

Visc Med

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A precise diagnosis of the nature of pancreatic cystic neoplasm (PCN) is crucial since it determines the patients in need of rapid surgical resection as well as those who can be followed up, and, accordingly, the frequency and modalities of surveillance. Endoscopic ultrasound (EUS) and especially fine needle aspiration (FNA) are invasive methods, with specific adverse events occurring in 2.7-5%. Thus, they should only be used as a third-line tool in the absence of characteristic radiographic features on computed tomography (CT) scan and magnetic resonance imaging (MRI). The most difficult aspects of differential diagnosis are: intraductal papillary mucinous neoplasm (IPMN) versus chronic pancreatitis; unifocal IPMN versus serous cystic neoplasm (SCN); macrocystic SCN versus mucinous cystic neoplasm (MCN); cystic neuroendocrine tumors versus MCN; solid serous cystadenoma versus neuroendocrine tumors versus small solid pseudopapillary tumors; pseudocyst versus MCN; low-grade, high-grade, or invasive IPMN. When classical radiological and EUS features are not conclusive, EUS-FNA may be helpful by analyzing cytological, chemical, and/or molecular data. The addition of EUS-FNA to CT scan and MRI increased the overall accuracy for diagnosing PCN by 36 and 54%, respectively. Analysis of molecular markers in pancreatic cyst fluid might increase the limited accuracy of EUS-FNA by using cytology and chemical and/or tumor marker analysis alone. Current evidence suggests that contrast-enhanced EUS (CH-EUS) is highly accurate for distinguishing non-neoplastic cysts from neoplastic cysts. CH-EUS might also be useful for distinguishing mural epithelial nodules from mucinous clots. Needle-based confocal laser endomicroscopy (nCLE) images a target tissue at a subcellular level of resolution, providing real-time in-vivo optical biopsy. nCLE is feasible during EUS-FNA and allows in-vivo diagnosis of PCN with high accuracy. In conclusion, EUS is a third-line tool in the diagnosis of PCN. Clinical context as well as careful evaluation of CT scan and magnetic resonance cholangiopancreatography images by specialized radiologists are crucial in the diagnosis process. Nowadays it is inconceivable to skip these steps.

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Performance characteristics of molecular (DNA) analysis for the diagnosis of mucinous pancreatic cysts

Cited by 101 publications

References 29 publications

Management of branch-duct intraductal papillary mucinous neoplasms: a large single-center study to assess predictors of malignancy and long-term outcomes

Management of branch-duct intraductal papillary mucinous neoplasms: a large single-center study to assess predictors of malignancy and long-term outcomes

Intraductal papillary mucinous neoplasms and mucinous cystadenomas: current status and recommendations

The Role of Endoscopic Ultrasound in the Diagnosis of Cystic Lesions of the Pancreas

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