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Cancer Science Dec 2023Familial adenomatous polyposis (FAP) patients develop various life-threatening extracolonic comorbidities that appear individually or within a family. This diversity can...
Familial adenomatous polyposis (FAP) patients develop various life-threatening extracolonic comorbidities that appear individually or within a family. This diversity can be explained by the localization of the adenomatous polyposis coli (APC) variant, but few reports provide definitive findings about genotype-phenotype correlations. Therefore, we investigated FAP patients and the association between the severe phenotypes and APC variants. Of 247 FAP patients, 126 patients from 85 families identified to have APC germline variant sites were extracted. These sites were divided into six groups (Regions A to F), and the frequency of severe comorbidities was compared among the patient phenotypes. Of the 126 patients, the proportions of patients with desmoid tumor stage ≥III, number of FGPs ≥1000, multiple gastric neoplasms, gastric neoplasm with high-grade dysplasia, and Spigelman stage ≥III were 3%, 16%, 21%, 12%, and 41%, respectively, while the corresponding rates were 30%, 50%, 70%, 50%, and 80% in patients with Region E (codons 1398-1580) variants. These latter rates were significantly higher than those for patients with variants in other regions. Moreover, the proportion of patients with all three indicators (desmoid tumor stage ≥III, number of FGPs ≥1000, and Spigelman stage ≥III) was 20% for those with variants in Region E and 0% for those with variants in other regions. Variants in Region E indicate aggressive phenotypes, and more intensive management is required.
Topics: Humans; Genes, APC; Fibromatosis, Aggressive; Genotype; Adenomatous Polyposis Coli; Phenotype; Stomach Neoplasms; Genetic Association Studies; Mutation
PubMed: 37798255
DOI: 10.1111/cas.15945 -
Chinese Medical Journal Feb 2020Diabetes mellitus and pancreatic ductal adenocarcinoma are two common diseases worldwidely which are both derived from different components of pancreas. The pancreatic... (Review)
Review
Diabetes mellitus and pancreatic ductal adenocarcinoma are two common diseases worldwidely which are both derived from different components of pancreas. The pancreatic and duodenal homeobox-1 (PDX1) is an essential transcription factor for the early development of pancreas that is required for the differentiation of all pancreatic cell lineages. Current evidence suggests an important role of PDX1 in both the origin and progression of pancreatic diseases. In this review, we discussed recent studies of PDX1 in diabetes mellitus and pancreatic cancer, and the therapeutic strategies derived from this transcription factor.
Topics: Animals; Carcinoma, Pancreatic Ductal; Diabetes Mellitus; Homeodomain Proteins; Humans; Insulin-Secreting Cells; Pancreatic Neoplasms; Trans-Activators
PubMed: 31904730
DOI: 10.1097/CM9.0000000000000628 -
International Journal of... 2023To investigate the computed tomography (CT) findings of chronic duodenal papilla mucositis and duodenal papillary carcinoma, and provide more imaging information for...
To investigate the computed tomography (CT) findings of chronic duodenal papilla mucositis and duodenal papillary carcinoma, and provide more imaging information for early diagnosis of duodenal malignant diseases. CT findings and clinical data of 40 patients with chronic duodenal papilla mucositis and 46 patients with duodenal papillary carcinoma were retrospectively analyzed. Observation and measuring of direct duodenal papilla signs (including size, shape, density, enhancement uniformity, etc.), indirect duodenal papilla signs (including pancreaticobiliary dilatation) and clinical indicators (including tumor markers CA19-9, CA125, CEA, blood routine white blood cell count, bilirubin, age, gender, etc.) were carried out according to CT as well as statistical analysis. There were significant differences in duodenal papilla regular morphology, age and CA19-9 ( < .05), and significant differences in duodenal papilla maximum transverse diameter, diameter of common bile duct, diameter of pancreatic duct, total bilirubin, direct bilirubin, and jaundice in duodenal papillary carcinoma group ( < 0.01). There were no significant differences in duodenal papilla enhancement uniformity, plain CT value, arterial CT value, portal CT value, enhancement uniformity, presence or not of calculus at the lower end, gender, CEA, CA125, white blood cell count, and abdominal pain with fever (all > .05). CT is helpful for the diagnosis of duodenal papilla disease, but the CT findings of patients with duodenal papillary carcinoma tend to be similar to findings of chronic duodenal papilla mucositis, which is easy to lead to misdiagnosis, so comprehensive diagnosis should be made according to the direct and indirect CT signs as well as laboratory and clinical manifestations of duodenal papilla, so as to improve the diagnosis of duodenal papillary carcinoma, and reduce missed diagnosis and misdiagnosis.
Topics: Humans; Carcinoma, Papillary; CA-19-9 Antigen; Retrospective Studies; Mucositis; Duodenal Neoplasms; Tomography, X-Ray Computed; Bilirubin
PubMed: 36762724
DOI: 10.1177/03946320231157868 -
Journal of Clinical Medicine May 2022Duodenal gastric metaplasia (DGM) is considered a precancerous lesion. No data are available regarding its possible role as a risk factor for duodenal neuroendocrine...
BACKGROUND
Duodenal gastric metaplasia (DGM) is considered a precancerous lesion. No data are available regarding its possible role as a risk factor for duodenal neuroendocrine neoplasms (dNENs).
AIMS
To assess the prevalence of DGM in a cohort of dNENs.
METHODS
Subgroup analysis of a retrospective study including dNEN patients who underwent surgical resection between 2000 and 2019 and were observed at eight Italian tertiary referral centers.
RESULTS
109 dNEN patients were evaluated. Signs of DGM associated with the presence of dNEN were reported in 14 patients (12.8%). Among these patients, nine (64.4%) had a dNEN of the superior part of the duodenum, one (7.1%) a periampullary lesion, three (21.4%) a dNEN located in the second portion of the duodenum, with a different localization distribution compared to patients without DGM ( = 0.0332). Ten were G1, three G2, and in one patient the Ki67 was not available. In the group with DGM, six patients (35.7%) were classified at stage I, five (28.6%) at stage II, three (21.4%) at stage III, and no one at stage IV. In the group without DGM, 20 patients (31%) were at stage I, 15 (15%) at stage II, 42 (44%) at stage III, and 19 (20%) at stage IV ( = 0.0236). At the end of the study, three patients died because of disease progression.
CONCLUSIONS
our findings might suggest that DGM could represent a feature associated with the occurrence of dNEN, especially for forms of the superior part of the duodenum, which should be kept in mind in the endoscopic follow up of patients with DGM. Interestingly, dNEN inside DGM showed a more favorable staging, with no patients in stage IV. The actual relationship and the clinical relevance of this possible association require further clarification.
PubMed: 35566783
DOI: 10.3390/jcm11092658 -
Revista Espanola de Enfermedades... Feb 2022An 83-year-old male presented to the Emergency Department with long lasting epigastric discomfort, weight loss and diarrhea. Physical exam and basic laboratory tests...
An 83-year-old male presented to the Emergency Department with long lasting epigastric discomfort, weight loss and diarrhea. Physical exam and basic laboratory tests showed no remarkable findings. Upper endoscopy revealed a sessile lesion (Paris 0-IIa) in the anterior wall of the duodenal bulb, with smooth surface and slightly ulcerated at the top.
Topics: Aged, 80 and over; Duodenal Neoplasms; Duodenum; Gastroscopy; Humans; Male
PubMed: 34607439
DOI: 10.17235/reed.2021.8349/2021 -
Diagnostic and Interventional Radiology... May 2020Duodenal tumours are uncommon, but they can cause significant morbidity and mortality. As stomach and colon are a more common site of gastrointestinal malignancies,... (Review)
Review
Duodenal tumours are uncommon, but they can cause significant morbidity and mortality. As stomach and colon are a more common site of gastrointestinal malignancies, radiologists sometimes neglect the duodenum. Multidetector computed tomography (MDCT) and magnetic resonance imaging (MRI) can accurately locate and characterize mass-forming duodenal lesions, making them invaluable for the differential diagnosis and determining management strategies such as biopsy or surgery. Although conventional endoscopy continues to play an important role in the diagnosis of duodenal tumors, MDCT and MRI are very useful for evaluating the duodenal wall, extraduodenal space, and surrounding viscera, as well as the intraluminal content seen on endoscopy. This pictorial review aims to illustrate the most common benign and malignant mass-forming duodenal lesions and to focus on the imaging features that are most helpful in reaching the correct diagnosis.
Topics: Adenocarcinoma; Aged; Aged, 80 and over; Diagnosis, Differential; Duodenal Neoplasms; Endoscopy, Gastrointestinal; Female; Gastrointestinal Neoplasms; Gastrointestinal Stromal Tumors; Humans; Leiomyoma; Lipoma; Lymphoma; Magnetic Resonance Imaging; Male; Middle Aged; Multidetector Computed Tomography; Neoplasm Metastasis; Neuroendocrine Tumors; Polyps; Radiologists
PubMed: 32209505
DOI: 10.5152/dir.2019.19241 -
Journal of Gastrointestinal and Liver... Sep 2020
Topics: Biopsy; Cystadenoma, Mucinous; Duodenal Neoplasms; Duodenoscopy; Female; Humans; Middle Aged; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 32830822
DOI: 10.15403/jgld-2497 -
Current Oncology (Toronto, Ont.) Sep 2022An increasing number of duodenal tumors are being diagnosed over the years, leading to increased confusion regarding the choice of treatment options. Small-to-large... (Review)
Review
An increasing number of duodenal tumors are being diagnosed over the years, leading to increased confusion regarding the choice of treatment options. Small-to-large tumors and histological types vary from adenoma to carcinoma, and treatment methods may need to be selected according to lesion characteristics. Because of its anatomic characteristics, complications are more likely to occur in the duodenum than in other gastrointestinal organs. Several reports have described the outcomes of conventional endoscopic mucosal resection, endoscopic submucosal dissection, cold snare polypectomy, underwater endoscopic mucosal resection, endoscopic full-thickness resection, and laparoscopic and endoscopic cooperative surgery for duodenal tumors. However, even in the guidelines set out by various countries, only the treatment methods are listed, and no clear treatment strategies are provided. Although there are few reports with a sufficiently high level of evidence, considering the currently available treatment options is essential. In this report, we reviewed previous reports on each treatment strategy, discussed the current issues and prospects, and proposed the best possible treatment strategy.
Topics: Humans; Duodenal Neoplasms; Colonic Polyps; Treatment Outcome; Colonoscopy; Duodenum; Adenoma
PubMed: 36290814
DOI: 10.3390/curroncol29100537 -
Langenbeck's Archives of Surgery Aug 2023Most studies on minimally invasive pancreatoduodenectomy (MIPD) combine patients with pancreatic and periampullary cancers even though there is substantial heterogeneity... (Meta-Analysis)
Meta-Analysis Review
The clinical implication of minimally invasive versus open pancreatoduodenectomy for non-pancreatic periampullary cancer: a systematic review and individual patient data meta-analysis.
BACKGROUND
Most studies on minimally invasive pancreatoduodenectomy (MIPD) combine patients with pancreatic and periampullary cancers even though there is substantial heterogeneity between these tumors. Therefore, this study aimed to evaluate the role of MIPD compared to open pancreatoduodenectomy (OPD) in patients with non-pancreatic periampullary cancer (NPPC).
METHODS
A systematic review of Pubmed, Embase, and Cochrane databases was performed by two independent reviewers to identify studies comparing MIPD and OPD for NPPC (ampullary, distal cholangio, and duodenal adenocarcinoma) (01/2015-12/2021). Individual patient data were required from all identified studies. Primary outcomes were (90-day) mortality, and major morbidity (Clavien-Dindo 3a-5). Secondary outcomes were postoperative pancreatic fistula (POPF), delayed gastric emptying (DGE), postpancreatectomy hemorrhage (PPH), blood-loss, length of hospital stay (LOS), and overall survival (OS).
RESULTS
Overall, 16 studies with 1949 patients were included, combining 928 patients with ampullary, 526 with distal cholangio, and 461 with duodenal cancer. In total, 902 (46.3%) patients underwent MIPD, and 1047 (53.7%) patients underwent OPD. The rates of 90-day mortality, major morbidity, POPF, DGE, PPH, blood-loss, and length of hospital stay did not differ between MIPD and OPD. Operation time was 67 min longer in the MIPD group (P = 0.009). A decrease in DFS for ampullary (HR 2.27, P = 0.019) and distal cholangio (HR 1.84, P = 0.025) cancer, as well as a decrease in OS for distal cholangio (HR 1.71, P = 0.045) and duodenal cancer (HR 4.59, P < 0.001) was found in the MIPD group.
CONCLUSIONS
This individual patient data meta-analysis of MIPD versus OPD in patients with NPPC suggests that MIPD is not inferior in terms of short-term morbidity and mortality. Several major limitations in long-term data highlight a research gap that should be studied in prospective maintained international registries or randomized studies for ampullary, distal cholangio, and duodenum cancer separately.
PROTOCOL REGISTRATION
PROSPERO (CRD42021277495) on the 25th of October 2021.
Topics: Humans; Pancreaticoduodenectomy; Duodenal Neoplasms; Prospective Studies; Pancreas; Postoperative Complications; Laparoscopy; Pancreatic Neoplasms; Retrospective Studies
PubMed: 37581763
DOI: 10.1007/s00423-023-03047-4 -
Scientific Reports Sep 2023Family with sequence similarity three member (FAM3) plays a crucial role in the malignant development of various cancers of human. However, there remains doubtful what...
Family with sequence similarity three member (FAM3) plays a crucial role in the malignant development of various cancers of human. However, there remains doubtful what specific role of FAM3 family genes in pan-cancer. Our study aimed to investigate the role of FAM3 family genes in prognosis, immune subtype, tumor immune microenvironment, stemness score, and anticancer drug sensitivity of pan-cancer. We obtained data from UCSC Xena GDC and CellMiner databases, and used them to study the correlation of the expression, survival, immune subtype, tumor microenvironment, stemness score, and anticancer drug sensitivity between FAM3 family genes with pan-cancer. Furthermore, we investigated the tumor cellular functions and clinical prognostic value FAMC3 in pancreatic cancer (PAAD) using cellular experiments and tissue microarray. Cell Counting Kit-8 (CCK-8), transwell invasion, wound-healing and apoptosis assays were performed to study the effect of FAM3C on SW1990 cells' proliferation, migration, invasion and apoptosis. Immunohistochemical staining was used to study the relationship between FAM3C expression and clinical characteristics of pancreatic cancer patients. The results revealed that FAM3 family genes are significantly differential expression in tumor and adjacent normal tissues in 7 cancers (CHOL, HNSC, KICH, LUAD, LUSC, READ, and STAD). The expression of FAM3 family genes were negatively related with the RNAss, and robust correlated with immune type, tumor immune microenvironment and drug sensitivity. The expression of FAM3 family genes in pan-cancers were significantly different in immune type C1 (wound healing), C2 (IFN-gamma dominant), C3 (inflammatory), C4 (lymphocyte depleted), C5 (immunologically quiet), and C6 (TGF-beta dominant). Meanwhile, overexpression FAM3C promoted SW1990 cells proliferation, migration, invasion and suppressed SW1990 cells apoptosis. While knockdown of FAM3C triggered opposite results. High FAM3C expression was associated with duodenal invasion, differentiation and liver metastasis. In summary, this study provided a new perspective on the potential therapeutic role of FAM3 family genes in pan-cancer. In particular, FAM3C may play an important role in the occurrence and progression of PAAD.
Topics: Humans; Prognosis; Pancreatic Neoplasms; Liver Neoplasms; Antineoplastic Agents; Tumor Microenvironment; Neoplasm Proteins; Cytokines
PubMed: 37704682
DOI: 10.1038/s41598-023-42060-x