High-resolution pelvic magnetic resonance imaging(MRI) is the primary method for staging rectal cancer.MRI is highly accurate in the primary staging of rectal cancer;however,it has not proven to be effective in restag...High-resolution pelvic magnetic resonance imaging(MRI) is the primary method for staging rectal cancer.MRI is highly accurate in the primary staging of rectal cancer;however,it has not proven to be effective in restaging,especially in complete response evaluation after neoadjuvant therapy.Neoadjuvant chemoradiotherapy produces many changes in rectal tumors and on adjacent area,as a result,local tumor extent may not be accurately determined.However,adding diffusion-weighted sequences to the standard approach can improve diagnostic accuracy.In this pictorial review,an overview of the situation of MRI in the staging and re-staging of rectal cancer is exhibited as a pictorial assay.An experience-and literature-based discussion of limitations and difficulties in interpretation are also presented.展开更多
Familial gastrointestinal stromal tumor(GIST) is a rare autosomal dominant disorder associated with mutations in the KIT gene in the majority of cases. Although, exon 11 appears to be the hot spot region for approxima...Familial gastrointestinal stromal tumor(GIST) is a rare autosomal dominant disorder associated with mutations in the KIT gene in the majority of cases. Although, exon 11 appears to be the hot spot region for approximately 95% of germline mutations, pathogenic variations have also been identified in exon 8, 13 and 17. Exon 13 germline mutations are extremely rare amongst familial GISTs and seven families with a germline mutation have been reported to date. Moreover, the role of imatinib mesylate in this rare familiar settings is not completely known so far. We describe here clinical, imaging, pathological and genetic findings of a family with four affected members; grandmother, his son and two grand-sons having a germline gain-of-function mutation of KIT in exon 13 and discuss the imatinib mesylate treatment surveillance outcomes towards disease management.展开更多
文摘High-resolution pelvic magnetic resonance imaging(MRI) is the primary method for staging rectal cancer.MRI is highly accurate in the primary staging of rectal cancer;however,it has not proven to be effective in restaging,especially in complete response evaluation after neoadjuvant therapy.Neoadjuvant chemoradiotherapy produces many changes in rectal tumors and on adjacent area,as a result,local tumor extent may not be accurately determined.However,adding diffusion-weighted sequences to the standard approach can improve diagnostic accuracy.In this pictorial review,an overview of the situation of MRI in the staging and re-staging of rectal cancer is exhibited as a pictorial assay.An experience-and literature-based discussion of limitations and difficulties in interpretation are also presented.
文摘Familial gastrointestinal stromal tumor(GIST) is a rare autosomal dominant disorder associated with mutations in the KIT gene in the majority of cases. Although, exon 11 appears to be the hot spot region for approximately 95% of germline mutations, pathogenic variations have also been identified in exon 8, 13 and 17. Exon 13 germline mutations are extremely rare amongst familial GISTs and seven families with a germline mutation have been reported to date. Moreover, the role of imatinib mesylate in this rare familiar settings is not completely known so far. We describe here clinical, imaging, pathological and genetic findings of a family with four affected members; grandmother, his son and two grand-sons having a germline gain-of-function mutation of KIT in exon 13 and discuss the imatinib mesylate treatment surveillance outcomes towards disease management.
