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Asian Journal of Surgery Nov 2023
Topics: Humans; Child; Pancreatic Neoplasms
PubMed: 37290981
DOI: 10.1016/j.asjsur.2023.05.104 -
Genes Dec 2023Adult pancreatoblastoma (PBL) is a rare pancreatic malignancy, with recent evidence suggesting a possible link to familial adenomatous polyposis (FAP). This study aims... (Review)
Review
BACKGROUND
Adult pancreatoblastoma (PBL) is a rare pancreatic malignancy, with recent evidence suggesting a possible link to familial adenomatous polyposis (FAP). This study aims to review the latest evidence and explore a possible association between adult PBL and FAP.
METHODS
Two independent literature reviews were conducted: (1) on PBL and FAP, and (2) on PBL in the adult population not diagnosed with FAP.
RESULTS
Out of 26 articles on PBL and FAP screened, 5 were selected for systematic review, including 1 additional case. We identified eight FAP-related PBL cases, with a median age of 40 (IQR: 34-50). Of these, seven (87%) occurred in adults. We found 65 cases of adult PBL not FAP-related; thus, 7 out of 65 cases (10.7%) of adult PBL reported in the literature are associated with a clinical diagnosis of FAP or were carriers of germline pathogenic variants (GPVs).
CONCLUSION
Data suggest a non-random association between adult PBL and FAP. Further research is essential to optimise surveillance protocols and develop more effective treatment strategies.
Topics: Adult; Humans; Adenomatous Polyposis Coli; Germ-Line Mutation; Pancreatic Neoplasms
PubMed: 38254934
DOI: 10.3390/genes15010044 -
Annales de Pathologie Nov 2022
Topics: Humans; Pancreatic Neoplasms
PubMed: 35701283
DOI: 10.1016/j.annpat.2022.04.002 -
BMJ Case Reports Apr 2020
Topics: Aged; Carcinoma, Acinar Cell; Endoscopic Ultrasound-Guided Fine Needle Aspiration; Humans; Male; Mesenteric Veins; Neoadjuvant Therapy; Pancreatic Neoplasms; Thrombosis; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 32265211
DOI: 10.1136/bcr-2019-233884 -
Frontiers in Oncology 2021Pancreatoblastoma is a rare malignant epithelial neoplasm of the pancreas that mainly occurs in children and involves abnormalities in the WNT/β-catenin pathway, such...
BACKGROUND
Pancreatoblastoma is a rare malignant epithelial neoplasm of the pancreas that mainly occurs in children and involves abnormalities in the WNT/β-catenin pathway, such as mutation. However, the molecular abnormalities in adult pancreatoblastoma are not well known.
CASE PRESENTATION
An elderly man, who underwent elective distal pancreatectomy and splenectomy, was referred to our hospital with a mass in the tail of the pancreas. Histologically, the lesion revealed proliferation of clear, basophilic, and cartilaginous tumor cells with lymphatic metastasis. Each of the morphologically distinct tumor components showed different immunohistochemical patterns, indicating heterogeneous differentiation, including epithelial (both acinar and ductal), mesenchymal, and neuroendocrine differentiation. All tumor components showed nuclear expression of β-catenin and cyclin D1. Per next-generation sequencing (NGS), the clear and basophilic tumor cells shared mutations in , , and . Among the mutations, , c.1816_1817insA showed the highest frequency in both cell types, indicating that mutation was a driver mutation of the tumor. A diagnosis of PB was rendered.
SUMMARY
In conclusion, the clear and basophilic cells of the tumor were supposedly derived from the same clone and subsequently acquired additional mutations. This is the first report of clonal evolution in pancreatoblastoma.
PubMed: 34513702
DOI: 10.3389/fonc.2021.725290 -
Tumori Aug 2019Exocrine pancreatic cancers include common type pancreatic ductal adenocarcinoma and cystic neoplasms, which account for 85% and 10% of cases, respectively. The...
INTRODUCTION
Exocrine pancreatic cancers include common type pancreatic ductal adenocarcinoma and cystic neoplasms, which account for 85% and 10% of cases, respectively. The remaining 5% are rare histotypes, comprising adenosquamous carcinoma, acinar cell carcinoma, signet ring cell carcinoma, medullary carcinoma, pancreatoblastoma, hepatoid carcinoma, undifferentiated carcinoma and its variant with osteoclast-like giant cells, solid pseudopapillary carcinoma, and carcinosarcoma. Due to their low incidence, little knowledge is available on their clinical and molecular features as well as on treatment choices. The national initiative presented here aims at the molecular characterization of series of rare histotypes for which therapeutic and follow-up data are available.
METHODS
A nationwide Italian Rare Pancreatic Cancer (IRaPaCa) task force whose first initiative is a multicentric retrospective study involving 21 Italian cancer centers to retrieve histologic material and clinical and treatment data of at least 100 patients with rare exocrine pancreatic cancers has been created. After histologic revision by a panel of expert pathologists, DNA and RNA from paraffin tissues will be investigated by next-generation sequencing using molecular pathway-oriented and immune-oriented mutational and expression profiling panels constructed availing of the information from the International Cancer Genome Consortium. Bioinformatic analysis of data will drive validation studies by immunohistochemistry and in situ hybridization, as well as nanostring assays.
CONCLUSIONS
We expect to gather novel data on rare pancreatic cancer types that will be useful to inform the design of therapeutic choices.
Topics: Carcinoma, Acinar Cell; Carcinoma, Adenosquamous; Carcinoma, Pancreatic Ductal; Female; Humans; Immunohistochemistry; Italy; Male; Pancreatic Neoplasms; Retrospective Studies
PubMed: 30967031
DOI: 10.1177/0300891619839461 -
Clinical Nuclear Medicine Aug 2021A 36-year-old asymptomatic woman was incidentally found to have a huge mass in the pancreas by ultrasound during routine health screening. The mass was suspected of...
A 36-year-old asymptomatic woman was incidentally found to have a huge mass in the pancreas by ultrasound during routine health screening. The mass was suspected of neuroendocrine tumor or solid pseudopapillary tumor by subsequent abdominal CT. 18F-FDG and 68Ga-DOTATATE PET/MR were acquired for presurgical assessment of the tumor invasion and malignant potential, which revealed intense FDG uptake and mild DOTATATE uptake. The tumor was completely resected, and postsurgical pathology demonstrated pancreatoblastoma with neuroendocrine manifestations. This case showed the metabolic and biological features of pancreatoblastoma on the 18F-FDG and 68Ga-DOTATATE PET/MR.
Topics: Adult; Female; Fluorodeoxyglucose F18; Humans; Incidental Findings; Magnetic Resonance Imaging; Multimodal Imaging; Organometallic Compounds; Pancreatic Neoplasms; Positron-Emission Tomography
PubMed: 33661203
DOI: 10.1097/RLU.0000000000003568 -
Cancer Research Feb 2018Pancreatoblastoma is a rare pediatric pancreatic malignancy for which the molecular pathogenesis is not understood. In this study, we report the findings of an...
Pancreatoblastoma is a rare pediatric pancreatic malignancy for which the molecular pathogenesis is not understood. In this study, we report the findings of an integrated multiomics study of whole-exome and RNA sequencing as well as genome-wide copy number and methylation analyses of ten pancreatoblastoma cases. The pancreatoblastoma genome was characterized by a high frequency of aberrant activation of the Wnt signaling pathway, either via somatic mutations of (90%) and copy-neutral loss of heterozygosity (CN-LOH) of (10%). In addition, imprinting dysregulation of as a consequence of CN-LOH (80%), gain of paternal allele (10%), and gain of methylation (10%) was universally detected. At the transcriptome level, pancreatoblastoma exhibited an expression profile characteristic of early pancreas progenitor-like cells along with upregulation of the R-spondin/LGR5/RNF43 module. Our results offer a comprehensive description of the molecular basis for pancreatoblastoma and highlight rational therapeutic targets for its treatment. Molecular genetic analysis of a rare untreatable pediatric tumor reveals Wnt/IGF2 aberrations and features of early pancreas progenitor-like cells, suggesting cellular origins and rational strategies for therapeutic targeting. .
Topics: Child; Exome; Female; Gene Expression Profiling; Humans; Male; Pancreatic Neoplasms
PubMed: 29233928
DOI: 10.1158/0008-5472.CAN-17-2581 -
DNA Methylation Profiling Enables Accurate Classification of Nonductal Primary Pancreatic Neoplasms.Clinical Gastroenterology and... Jun 2024Cytologic and histopathologic diagnosis of non-ductal pancreatic neoplasms can be challenging in daily clinical practice, whereas it is crucial for therapy and...
BACKGROUND & AIMS
Cytologic and histopathologic diagnosis of non-ductal pancreatic neoplasms can be challenging in daily clinical practice, whereas it is crucial for therapy and prognosis. The cancer methylome is successfully used as a diagnostic tool in other cancer entities. Here, we investigate if methylation profiling can improve the diagnostic work-up of pancreatic neoplasms.
METHODS
DNA methylation data were obtained for 301 primary tumors spanning 6 primary pancreatic neoplasms and 20 normal pancreas controls. Neural Network, Random Forest, and extreme gradient boosting machine learning models were trained to distinguish between tumor types. Methylation data of 29 nonpancreatic neoplasms (n = 3708) were used to develop an algorithm capable of detecting neoplasms of non-pancreatic origin.
RESULTS
After benchmarking 3 state-of-the-art machine learning models, the random forest model emerged as the best classifier with 96.9% accuracy. All classifications received a probability score reflecting the confidence of the prediction. Increasing the score threshold improved the random forest classifier performance up to 100% with 87% of samples with scores surpassing the cutoff. Using a logistic regression model, detection of nonpancreatic neoplasms achieved an area under the curve of >0.99. Analysis of biopsy specimens showed concordant classification with their paired resection sample.
CONCLUSIONS
Pancreatic neoplasms can be classified with high accuracy based on DNA methylation signatures. Additionally, non-pancreatic neoplasms are identified with near perfect precision. In summary, methylation profiling can serve as a valuable adjunct in the diagnosis of pancreatic neoplasms with minimal risk for misdiagnosis, even in the pre-operative setting.
Topics: Humans; DNA Methylation; Pancreatic Neoplasms; Male; Female; Aged; Middle Aged
PubMed: 38382726
DOI: 10.1016/j.cgh.2024.02.007 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Dec 2017
PubMed: 29224282
DOI: 10.3760/cma.j.issn.0529-5807.2017.12.010