Recurrent Rearrangements in PRKACA and PRKACB in Intraductal Oncocytic Papillary Neoplasms of the Pancreas and Bile Duct

Singhi, Aatur D.; Wood, Laura D.; Parks, Emma; Torbenson, Michael; Felsenstein, Matthäus; Hruban, Ralph H.; Nikiforova, Marina N.; Wald, Abigail I.; Kaya, Cihan; Favazza, Laura; He, Jin; McGrath, Kevin; Fasanella, Kenneth E.; Brand, Randall E.; Lennon, Anne Marie; Furlan, Alessandro; Dasyam, Anil K.; Zureikat, Amer H.; Zeh, Herbert J.; Lee, Kenneth; Bartlett, David L.; Slivka, Adam

doi:10.1053/j.gastro.2019.10.028

Cited by 121 publications

(85 citation statements)

References 41 publications

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“…Another more recent study, found the presence of recurrent fusions of PRKACA and PRKACB genes in all the 23 surgically resected oncocytic IPMNs under examination. The same samples were negative for the key genomic alterations found in other pancreatic neoplasms, supporting the distinct entity of oncocytic IPMNs [91]. It will be important to confirm these results in larger studies and possibly explore different cancer gene panels for oncocytic IPMNs.…”

Section: Genetics and Molecular Pathwayssupporting

confidence: 54%

Intraductal Pancreatic Mucinous Neoplasms: A Tumor-Biology Based Approach for Risk Stratification

Nasca

Chiaravalli

Piro

et al. 2020

IJMS

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Pancreatic ductal adenocarcinoma is one of the most lethal human cancers. Its precursor lesions include pancreatic intra-epithelial neoplasia, mucinous cystic neoplasm, and intraductal papillary mucinous neoplasm (IPMN). IPMNs usually present as an incidental finding at imaging in 2.6% of the population and, according to the degree of dysplasia, they are classified as low- or high-grade lesions. Since the risk of malignant transformation is not accurately predictable, the management of these lesions is based on morphological and clinical parameters, such as presence of mural nodule, main pancreatic duct dilation, presence of symptoms, or high-grade dysplasia. Although the main genetic alterations associated to IPMNs have been elucidated, they are still not helpful for disease risk stratification. The growing body of genomic and epigenomic studies along with the more recent development of organotypic cultures provide the opportunity to improve our understanding of the malignant transformation process, which will likely deliver biomarkers to help discriminate between low- and high-risk lesions. Recent insights on the topic are herein summarized.

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Section: Genetics and Molecular Pathwayssupporting

confidence: 54%

Intraductal Pancreatic Mucinous Neoplasms: A Tumor-Biology Based Approach for Risk Stratification

Nasca

Chiaravalli

Piro

et al. 2020

IJMS

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“…This is in line with our observation of a cooccurrence of BAP1 inactivation and PKA activation through copy number alterations. Remarkably, 2 independent teams recently reported the presence of DNAJB1-PRKACA fusions in rare pancreatic and biliary neoplasms, thus reinforcing the link between the oncogenic activation of PKA and the hepato-pancreatic progenitor lineage, while challenging the exclusivity between FLC and the DNAJB1-PRKACA fusion 45,46 . Of note, HCC usually lacks lymph node involvement or perineural invasion, commonly found in other epithelial tumors such as pancreatic adenocarcinomas 47,48 or cholangiocarcinoma 49,50 .…”

Section: Discussionmentioning

confidence: 99%

BAP1 mutations define a homogeneous subgroup of hepatocellular carcinoma with fibrolamellar-like features and activated PKA

Hirsch

Negulescu

Gupta

et al. 2020

Journal of Hepatology

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“…By contrast, it was recently shown that the morphologically distinct intraductal neoplasm, the intraductal oncocytic papillary neoplasm (IOPN), does not harbor these changes and, instead, IOPNs have distinctive translocations targeting the PRKACA or PRKACB genes (Fig. 4) [162,163]. Importantly, as shown in Table 2 and illustrated in Fig.…”

Section: The Four Most Common Cystic Neoplasms Of the Pancreasmentioning

confidence: 97%

The genetics of ductal adenocarcinoma of the pancreas in the year 2020: dramatic progress, but far to go

et al. 2020

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The publication of the "Pan-Cancer Atlas" by the Pan-Cancer Analysis of Whole Genomes Consortium, a partnership formed by The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC), provides a wonderful opportunity to reflect on where we stand in our understanding of the genetics of pancreatic cancer, as well as on the opportunities to translate this understanding to patient care. From germline variants that predispose to the development of pancreatic cancer, to somatic mutations that are therapeutically targetable, genetics is now providing hope, where there once was no hope, for those diagnosed with pancreatic cancer.

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Recurrent Rearrangements in PRKACA and PRKACB in Intraductal Oncocytic Papillary Neoplasms of the Pancreas and Bile Duct

Cited by 121 publications

References 41 publications

Intraductal Pancreatic Mucinous Neoplasms: A Tumor-Biology Based Approach for Risk Stratification

Intraductal Pancreatic Mucinous Neoplasms: A Tumor-Biology Based Approach for Risk Stratification

BAP1 mutations define a homogeneous subgroup of hepatocellular carcinoma with fibrolamellar-like features and activated PKA

The genetics of ductal adenocarcinoma of the pancreas in the year 2020: dramatic progress, but far to go

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