Gastrointestinal stromal tumors(GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and have gained considerable research and treatment interest,especially in the last two decades. GISTs are dr...Gastrointestinal stromal tumors(GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and have gained considerable research and treatment interest,especially in the last two decades. GISTs are driven by mutations commonly found in the KIT gene and less commonly in the platelet-derived growth factor receptor alpha gene,BRAF gene and succinate dehydrogenase gene. GISTs behave in a spectrum of malignant potential,and both the tumor size and mitotic index are the most commonly used prognostic criteria. Whilst surgical resection can offer the best cure,targeted therapy in the form of tyrosine kinase inhibitors(TKIs) has revolutionized the management options. As the first-line TKI,imatinib offers treatment for advanced and metastatic GISTs,adjuvant therapy in high-risk GISTs and as a neoadjuvant agent to downsize large tumors prior to resection. The emergence of drug resistance has altered some treatment options,including prolonging the first-line TKI from 1 to 3 years,increasing the dose of TKI or switching to second-line TKI. Other newer TKIs,such as sunitinib and regorafenib,may offer some treatment options for imatinib-resistant GISTs. New molecular targeted therapies are being evaluated,such as inhibitors of BRAF,heat shock protein 90,glutamine and mitogenactivated protein kinase signaling,as well as inhibitors of apoptosis proteins antagonist and even immunotherapy. This editorial review summarizes the recent research trials and potential treatment targets that may influence our future patient-specific management of GISTs. The current guidelines in GIST management from Europe,North America and Asia are highlighted.展开更多
We described the case of a peripancreatic paraganglioma(PGL)misdiagnosed as pancreatic lesion.Surgical exploration revealed an unremarkable pancreas and a large well-defined cystic mass originating at the mesocolon ro...We described the case of a peripancreatic paraganglioma(PGL)misdiagnosed as pancreatic lesion.Surgical exploration revealed an unremarkable pancreas and a large well-defined cystic mass originating at the mesocolon root.Radical enucleation of the mass was performed,preserving the pancreatic tail.Histologically,a diagnosis of PGL was rendered.Interestingly,two previously unreported mutations,one affecting the KDR gene in exon 7 and another on the JAK3 gene in exon 4 were detected.Both mutations are known to be pathogenetic.Imaging and cytologic findings were blindly reviewed by an expert panel of clinicians,radiologists,and pathologists to identify possible causes of the misdiagnosis.The major issue was lack of evidence of a cleavage plane from the pancreas at imaging,which prompted radiologists to establish an intraparenchymal origin.The blinded revision shifted the diagnosis towards an extrapancreatic lesion,as the pancreatic parenchyma showed no structural alterations and no dislocation of the Wirsung duct.Ex post,the identified biases were the emergency setting of the radiologic examination and the very thin mesocolon sheet,which hindered clear definition of the lesion borders.Original endoscopic ultrasonography diagnosis was confirmed,emphasizing the intrinsic limit of this technique in detecting large masses.Finally,pathologic review favored a diagnosis of PGL due to the morphological features and immonohistochemical profile.Eighteen months after tumor excision,the patient is asymptomatic with no disease relapse evident by either radiology or laboratory tests.Our report strongly highlights the difficulties in rendering an accurate preoperative diagnosis of PGL.展开更多
文摘Gastrointestinal stromal tumors(GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and have gained considerable research and treatment interest,especially in the last two decades. GISTs are driven by mutations commonly found in the KIT gene and less commonly in the platelet-derived growth factor receptor alpha gene,BRAF gene and succinate dehydrogenase gene. GISTs behave in a spectrum of malignant potential,and both the tumor size and mitotic index are the most commonly used prognostic criteria. Whilst surgical resection can offer the best cure,targeted therapy in the form of tyrosine kinase inhibitors(TKIs) has revolutionized the management options. As the first-line TKI,imatinib offers treatment for advanced and metastatic GISTs,adjuvant therapy in high-risk GISTs and as a neoadjuvant agent to downsize large tumors prior to resection. The emergence of drug resistance has altered some treatment options,including prolonging the first-line TKI from 1 to 3 years,increasing the dose of TKI or switching to second-line TKI. Other newer TKIs,such as sunitinib and regorafenib,may offer some treatment options for imatinib-resistant GISTs. New molecular targeted therapies are being evaluated,such as inhibitors of BRAF,heat shock protein 90,glutamine and mitogenactivated protein kinase signaling,as well as inhibitors of apoptosis proteins antagonist and even immunotherapy. This editorial review summarizes the recent research trials and potential treatment targets that may influence our future patient-specific management of GISTs. The current guidelines in GIST management from Europe,North America and Asia are highlighted.
文摘We described the case of a peripancreatic paraganglioma(PGL)misdiagnosed as pancreatic lesion.Surgical exploration revealed an unremarkable pancreas and a large well-defined cystic mass originating at the mesocolon root.Radical enucleation of the mass was performed,preserving the pancreatic tail.Histologically,a diagnosis of PGL was rendered.Interestingly,two previously unreported mutations,one affecting the KDR gene in exon 7 and another on the JAK3 gene in exon 4 were detected.Both mutations are known to be pathogenetic.Imaging and cytologic findings were blindly reviewed by an expert panel of clinicians,radiologists,and pathologists to identify possible causes of the misdiagnosis.The major issue was lack of evidence of a cleavage plane from the pancreas at imaging,which prompted radiologists to establish an intraparenchymal origin.The blinded revision shifted the diagnosis towards an extrapancreatic lesion,as the pancreatic parenchyma showed no structural alterations and no dislocation of the Wirsung duct.Ex post,the identified biases were the emergency setting of the radiologic examination and the very thin mesocolon sheet,which hindered clear definition of the lesion borders.Original endoscopic ultrasonography diagnosis was confirmed,emphasizing the intrinsic limit of this technique in detecting large masses.Finally,pathologic review favored a diagnosis of PGL due to the morphological features and immonohistochemical profile.Eighteen months after tumor excision,the patient is asymptomatic with no disease relapse evident by either radiology or laboratory tests.Our report strongly highlights the difficulties in rendering an accurate preoperative diagnosis of PGL.
