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Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by mutations in the Serine-Threonine Kinase 11 (STK11) gene. This study aimed to diagnose a Chinese pedigree with PJS and to expand the spectrum of STK11 variants. Methods: We performed an inductive analysis of clinical features, gastrointestinal endoscopy, radiologic imaging, and pathological findings in a Chinese family with PJS. Whole-exome sequencing (WES), Sanger sequencing, and STK11 protein 3D structure prediction were performed for establishing a molecular diagnosis. Results: The proband, her mother, and grandfather presented with pigmentation spots on lips, oral mucosa, and fingers. Her mother and grandfather also had pigmentation spots on face and feet, while her brother had pigmentation spots only on the lower lip. On endoscopy, polyps were discovered in the proband, her mother, and grandfather. A novel heterozygous mutation (c.521A > C) in exon 4 of STK11 was identified in all four patients, leading to a change from histidine to proline in amino acid 174. The variable site p.H174 was highly conserved in different species on multiple sequence alignment analysis. Conclusions: We diagnosed a Chinese pedigree with PJS based on clinical features, gastrointestinal endoscopy, and genetic testing results. Our results expanded the spectrum of STK11 variants, which will be helpful for genetic counseling. [ABSTRACT FROM AUTHOR]

Background: Pancreatic hamartoma is an extremely rare benign disease, and previous reports have provided little detail regarding its appearance in imaging. As a result, we report the imaging findings for two cases of pancreatic hamartoma.Case Presentation: One 57-year-old female patient and one 69-year-old male patient presented with pancreatic lesions incidentally detected by US; CT and MRI revealed a 2.9-cm cystic and solid lesion and a 1.4-cm solid lesion, respectively. US showed a hypoechoic well-defined mass in the pancreatic head. The plain CT indicated that the internal density was uneven, and the lesions showed obvious progressive enhancement. The MRI-T2WI showed iso- to high-intensity, the DWI showed iso-intensity, and the masses also all showed obvious progressive enhancement. Histopathological studies confirmed the diagnosis of pancreatic hamartoma.Conclusion: Pancreatic hamartoma is an extremely rare tumour with benign features, such as no dilatation of the MPD and well-defined, slight hyperintensity or iso-intensity on T2WI and iso-intensity on DWI, with obvious progressive enhancement. Therefore, detailed review of multiple imaging modalities may help in diagnosis of PH and prevent unnecessary surgery for patients with this diagnosis. [ABSTRACT FROM AUTHOR]

Background: Pancreatic hamartoma is an extremely rare benign disease of the pancreas. Only 30 cases have been reported to date.Case Presentation: A 68-year-old man presented with an asymptomatic solid and multi-cystic lesion in the uncus of the pancreas, incidentally detected on abdominal enhanced computed tomography. The tumor was found to be a well-demarcated solid and multi-cystic lesion without any enhancement, measuring 4 cm in diameter. After 28 months of follow-up, the tumor enlarged. At 31 months after initial diagnosis, the patient underwent surgical resection because it was difficult to clinically determine whether the tumor was malignant or not. Macroscopically, the solid tumor consisted of yellow adipose tissue with a smooth thin capsule confined to the pancreatic uncus. The inner structure of the tumor consisted of multiple cysts with a white nodule between the cysts. Histologically, the solid part and the multi-cystic portion consisted of mature adipose tissue and colonization of dilated pancreatic ducts with mild fibrosis, respectively. Immunohistochemical findings revealed cytokeratin 7 and 19 positive staining in the epithelial cells of the ducts. Adipose tissue showed positive staining for S-100 protein and there were only a few MIB-1 positive cells. The tumor was then diagnosed as a pancreatic hamartoma.Conclusion: Beside on the above findings, we suggest that the term "well-demarcated solid and cystic lesion with chronological morphological changes" could be a clinical keyword to describe pancreatic hamartomas. [ABSTRACT FROM AUTHOR]

Background: Peutz-Jeghers syndrome (PJS) is caused by mutations in serine/threonine kinase 11 (STK11) gene. The increased cancer risk has been connected to P53 pathway. Methods: PJS probands with STK11 mutation were included in the function analysis. P53 activity elevated by STK11 mutants was investigated using dual-luciferase reporter assay in vitro after constructing expression vectors of STK11 wild type and mutants generated by site-directed substitution. The association between the P53 activity and clinicopathological factors was analysis, especially the cancer history. Results: Thirteen probands with STK11 mutations were involved, and within the mutations, c.G924A was novel. P53 activity elevation caused by 6 truncating mutations were significantly lower than that of STK11 wild type (P < 0.05). Family history of cancer was observed in 5 families. Within them, P53 activity was reduced and cancer occurred before 40 in 2 families, while it was not significantly changed and cancers happened after 45 in the other 3 families. Conclusions: The affected P53 activity caused by STK11 mutations in PJS patients is significantly associated with protein truncation, while cancer risk in PJS can be elevated through pathways rather than P53 pathway. P53 activity test is probably a useful supporting method to predict cancer risk in PJS, which could be helpful in clinical practice. [ABSTRACT FROM AUTHOR]

Background: Pancreatic hamartomas are extremely rare and may be misdiagnosed as malignant tumors. We report herein a case of a small, solid-type pancreatic hamartoma.Case Presentation: A 72-year-old female was incidentally detected pancreatic lesion by ultrasonography. Computed tomography and magnetic resonance imaging revealed a 2.0-cm solid lesion. The main pancreatic duct (MPD) was obstructed by the lesion in the head of the pancreas, and the upstream MPD was dilated. 18F-fluorodeoxyglucose (FDG) accumulated avidly in the lesion and increased in FDG intensity from the early to the delayed images. The histopathological studies confirmed the diagnosis of pancreatic hamartoma. Immunohistochemically, the cell membrane of the accessory glands and ducts showed homogeneous expression of glucose transporter type I and hexokinase II.Conclusion: Pancreatic hamartomas causing dilatation of the MPD are extremely rare, and this appears to be the first case of a hamartoma to take up FDG avidly. It was a rare occurrence and should be noted that pancreatic hamartomas can cause an obstruction of the MPD and show avid FDG uptake, thereby mimicking malignant pancreatic tumors. [ABSTRACT FROM AUTHOR]