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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 -
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 -
Cureus Oct 2023In this report we present a rare case of pancreatoblastoma in an adult patient. Whilst they are amongst the most common malignant pancreatic tumours in children,...
In this report we present a rare case of pancreatoblastoma in an adult patient. Whilst they are amongst the most common malignant pancreatic tumours in children, presentations in adults are exceedingly rare, with a small number of reported cases. Its presentation is often non-specific in terms of clinical examination, and subsequent imaging can show similar findings to those seen in benign neoplasms. This report highlights the difficulty of achieving a diagnosis and subsequent treatment of such an uncommon disease. Biopsy and resultant histology are essential in diagnosis and surgical resection remains the preferred modality of treatment. However, the use of chemotherapy and its efficacy in adults remains unclear, and the prognosis documented in existing literature for adults is worse when compared to paediatric presentations. This case emphasises the need to consider pancreatoblastoma as a differential diagnosis when suspecting pancreatic or abdominal malignancies to achieve early detection and diagnosis, in order to provide optimal treatment and improve patient outcomes.
PubMed: 38046486
DOI: 10.7759/cureus.48063 -
EJC Paediatric Oncology Dec 2023While all childhood cancers are rare, tumors that are particularly infrequent or underrepresented within pediatrics are studied under the umbrella of the Children's...
While all childhood cancers are rare, tumors that are particularly infrequent or underrepresented within pediatrics are studied under the umbrella of the Children's Oncology Group Rare Tumor committee, divided into the Retinoblastoma and Infrequent Tumor subcommittees. The Infrequent Tumor subcommittee has traditionally included an emphasis on globally rare tumors such as adrenocortical carcinoma, nasopharyngeal carcinoma, or those tumors that are rare in young children, despite being common in adolescents and young adults, such as colorectal carcinoma, thyroid carcinoma, and melanoma. Pleuropulmonary blastoma, gonadal stromal tumors, pancreatic tumors including pancreatoblastoma, gastrointestinal stromal tumor, nonmelanoma skin cancers, neuroendocrine tumors, and desmoplastic small round cell tumors, as well as other carcinomas are also included under the heading of the Children's Oncology Group Rare Tumor committee. While substantial challenges exist in rare cancers, inclusion and global collaboration remain key priorities to ensure high quality research to advance care.
PubMed: 37829670
DOI: 10.1016/j.ejcped.2023.100024 -
Journal of Gastrointestinal Surgery :... Dec 2023
Topics: Adult; Humans; Pancreatic Neoplasms
PubMed: 37620658
DOI: 10.1007/s11605-023-05816-4 -
Asian Journal of Surgery Nov 2023
Topics: Humans; Child; Pancreatic Neoplasms
PubMed: 37290981
DOI: 10.1016/j.asjsur.2023.05.104 -
The Gulf Journal of Oncology May 2023Pancreatoblastoma is a rare malignant epithelial neoplasm of the pancreas. It primarily occurs in the pediatric population and is extremely uncommon in adults. A...
Pancreatoblastoma is a rare malignant epithelial neoplasm of the pancreas. It primarily occurs in the pediatric population and is extremely uncommon in adults. A 64-year-old male patient with no known systemic disease presented to our clinic with abdominal pain and dyspeptic complaints. On physical examination, a tender epigastric mass was palpated. The patient was operated on with a preliminary diagnosis of gastrointestinal stromal tumor. Enbloc resection of the mass was performed. The transverse colon was segmentally resected with wedge resection of the gastric corpus. A stapled side-to-side anastomosis was performed. The macroscopic examination of the case revealed a tumoral lesion of approximately 16x13.5x10m, located in the submucosal area between the gastric corpus and the transverse colon. The microscopic examination showed acini, which have a highly cellular appearance, contain areas of necrosis, and form nested structures in places, stratification in places. The immunohistochemical examination demonstrated positive Trypsin expression, while focal positive expression of neuroendocrine markers such as Synaptophysin, Chromogranin, and Insulinomaassociated protein 1 (INSM-1) was observed. In betacatenin staining, aberrant nuclear and cytoplasmic positive expression was observed, and this staining pattern and morphology confirmed the diagnosis of pancreatoblastoma. Pathological Stage:pT3,N0,Mx the patient had an uneventful postoperative period and was referred to the oncology department for adjuvant chemotherapy. Pancreatoblastoma is an extremely rare type of pancreatic cancer and there are no established guidelines for the treatment of this aggressive disease. Surgical resection is recommended if anatomically possible. Pancreatoblastoma should be considered in the differential diagnosis of asymptomatic masses containing cystic-solid components and reaching very large sizes. Key words: Pancreas,Rare tumor, Pancreatoblastoma.
Topics: Male; Adult; Humans; Child; Middle Aged; Pancreatic Neoplasms; Chemotherapy, Adjuvant; Diagnosis, Differential
PubMed: 37283265
DOI: No ID Found -
Clinical Case Reports May 2023The differential diagnoses of solid pseudopapillary neoplasm of the pancreas include cystic pancreatic neuroendocrine tumor, acinar cell carcinoma, and pancreatoblastoma.
KEY CLINICAL MESSAGE
The differential diagnoses of solid pseudopapillary neoplasm of the pancreas include cystic pancreatic neuroendocrine tumor, acinar cell carcinoma, and pancreatoblastoma.
ABSTRACT
Solid pseudopapillary neoplasm (SPN) is a low-grade malignant pancreatic tumor which accounts for 0.9%-2.7% of all exocrine pancreatic neoplasms. It predominantly affects young females (90%) and less frequently occurs in male patients. Its prognosis after surgical resection remains excellent. Herein, we report a case of SPN in a male patient.
PubMed: 37220514
DOI: 10.1002/ccr3.7387 -
Cancers Apr 2023The most common tumour of the pancreas is ductal adenocarcinoma (PDAC). It remains one of the most lethal non-neuroendocrine solid tumours despite the use of a... (Review)
Review
The most common tumour of the pancreas is ductal adenocarcinoma (PDAC). It remains one of the most lethal non-neuroendocrine solid tumours despite the use of a multi-approach strategy. Other, less-common neoplasms, which are responsible for 15% of pancreatic lesions, differ in treatment and prognosis. Due to the low incidence rate, there is a lack of information about the rarest pancreatic tumours. In this review, we described six rare pancreatic tumours: intraductal papillary mucinous neoplasm (IPMN), mucinous cystadenoma (MCN), serous cystic neoplasm (SCN), acinar cell carcinoma (ACC), solid pseudopapillary neoplasm (SPN) and pancreatoblastoma (PB). We distinguished their epidemiology, clinical and gross features, covered the newest reports about courses of treatment and systematised differential diagnoses. Although the most common pancreatic tumour, PDAC, has the highest malignant potential, it is still essential to properly classify and differentiate less-common lesions. It is vital to continue the search for new biomarkers, genetic mutations and the development of more specific biochemical tests for determining malignancy in rare pancreatic neoplasms.
PubMed: 37190144
DOI: 10.3390/cancers15082216 -
PancreasPancreatoblastomas are rare pediatric tumors. In adults, they are exceedingly rare and seem to have a worse prognosis. Most are sporadic, though rare, cases occur in...
A Subset of Pancreatoblastomas May Arise From an Adenomatous Precursor: An Ampullary Pancreatoblastoma and Adjacent Adenoma With a Shared Molecular Phenotype in an Adult Patient.
Pancreatoblastomas are rare pediatric tumors. In adults, they are exceedingly rare and seem to have a worse prognosis. Most are sporadic, though rare, cases occur in patients with familial adenomatous polyposis. Unlike pancreatic ductal adenocarcinomas, pancreatoblastomas are not believed to arise from dysplastic precursor lesions. Clinical history, along with endoscopic, pathological, and molecular findings, was reviewed for a 57-year-old male patient with an ampullary mass who presented with obstructive jaundice. Microscopic examination showed a pancreatoblastoma subjacent to an adenomatous polyp with intestinal differentiation and low-grade dysplasia. Both tumors had abnormal p53 (complete loss) and nuclear β-catenin immunostaining. Mutational panel analysis showed an identical CTNNB1 (p.S45P) mutation in both. This case adds to our understanding of the pathogenesis of these rare tumors and suggests that a subset may arise from an adenomatous precursor. In addition, this case is just the second pancreatoblastoma to originate in the duodenal ampulla, and the preceding case suggests that an ampullary location leads to earlier diagnosis. Moreover, this case highlights the difficulty in diagnosing pancreatoblastoma on limited tissue specimens and illustrates the need to include pancreatoblastoma in the differential diagnosis in all tumors in and around the pancreas, including those in adult patients.
Topics: Male; Humans; Adenoma; Pancreatic Neoplasms; Adenomatous Polyposis Coli; Pancreas
PubMed: 37099791
DOI: 10.1097/MPA.0000000000002189