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Pediatric Reports May 2024Complete surgical resection in the context of a multimodal approach has been associated with excellent long-term survival in children diagnosed with pancreatoblastoma... (Review)
Review
Complete surgical resection in the context of a multimodal approach has been associated with excellent long-term survival in children diagnosed with pancreatoblastoma (PB). Traditionally, curative intent surgery for PB implies standard pancreatic resections such as pancreaticoduodenectomies and distal pancreatectomies with splenectomies, surgical procedures that may lead to significant long-term pancreatic functional deficiencies. Postoperative pancreatic functional deficiencies are particularly interesting to children because they may interfere with their development, considering their long life expectancy and the significant role of pancreatic functions in their nutritional status and growth. Thus, organ-sparing pancreatectomies, such as spleen-preserving distal pancreatectomies and central pancreatectomies, are emerging in specific tumoral pathologies in children. However, data about organ-sparing pancreatectomies' potential role in curative-intent PB surgery in children are scarce. Based on the literature data, the current review aims to present the early and late outcomes of pancreatectomies in children (including long-term deficiencies and their potential impact on the development and quality of life), particularly for PB, and further explore the potential role of organ-sparing pancreatectomies for PB. Organ-sparing pancreatectomies are associated with better long-term pancreatic functional outcomes, particularly central pancreatectomies, and have a reduced impact on children's development and quality of life without jeopardizing their oncological safety. The long-term preservation of pancreatic functions should not be disregarded when performing pancreatectomies for PB in children. A subset of patients with PB might benefit from organ-sparing pancreatectomies, particularly from central pancreatectomies, with the same oncological results as standard pancreatectomies but with significantly less impact on long-term functional outcomes.
PubMed: 38804376
DOI: 10.3390/pediatric16020033 -
BMC Medical Imaging May 2024
PubMed: 38730356
DOI: 10.1186/s12880-024-01298-1 -
World Journal of Gastrointestinal... Apr 2024Blastomas, characterized by a mixture of mesenchymal, epithelial, and undifferentiated blastematous components, are rare malignant neoplasms originating from precursor... (Review)
Review
Blastomas, characterized by a mixture of mesenchymal, epithelial, and undifferentiated blastematous components, are rare malignant neoplasms originating from precursor blast cells. This review focuses on digestive system blastomas in adult patients, including gastroblastoma, hepatoblastoma, and pancreatoblastoma. Gastroblastoma is a biphasic, epitheliomesenchymal tumor, with only sixteen cases reported to date. In addition to the characteristic histology, metastasis-associated lung adenocarcinoma transcript 1 - glioma-associated oncogene homolog 1 gene fusion is typical, although recently novel ewing sarcoma breakpoint region 1 - c-terminal binding protein 1 and patched 1 - glioma-associated oncogene homolog 2 fusions have been described. Hepatoblastoma is exceptionally rare in adults and can show a variety of histologic patterns which may cause diagnostic difficulty. Pancreatoblastoma, primarily a pediatric tumor, displays acinar differentiation and squamoid nests with other lines of differentiation also present, especially neuroendocrine. Diagnostic approaches for these blastomas include a combination of imaging modalities, histopathological examination, and molecular profiling. The treatment generally involves surgical resection, which may be supplemented by chemotherapy or radiotherapy in some cases. Prognoses vary with gastroblastoma generally showing favorable outcomes post-surgery whereas hepatoblastoma and pancreatoblastoma often have poorer outcomes, particularly in the setting of metastases. This review highlights the complexity of diagnosing and managing these rare adult blastomas as well as the need for ongoing research to better understand their pathogenesis and improve treatment strategies.
PubMed: 38690053
DOI: 10.4240/wjgs.v16.i4.1030 -
The American Journal of Surgical... May 2024The diagnosis of solid pseudopapillary neoplasm of the pancreas (SPN) can be challenging due to potential confusion with other pancreatic neoplasms, particularly...
The diagnosis of solid pseudopapillary neoplasm of the pancreas (SPN) can be challenging due to potential confusion with other pancreatic neoplasms, particularly pancreatic neuroendocrine tumors (NETs), using current pathological diagnostic markers. We conducted a comprehensive analysis of bulk RNA sequencing data from SPNs, NETs, and normal pancreas, followed by experimental validation. This analysis revealed an increased accumulation of peroxisomes in SPNs. Moreover, we observed significant upregulation of the peroxisome marker ABCD1 in both primary and metastatic SPN samples compared with normal pancreas and NETs. To further investigate the potential utility of ABCD1 as a diagnostic marker for SPN via immunohistochemistry staining, we conducted verification in a large-scale patient cohort with pancreatic tumors, including 127 SPN (111 primary, 16 metastatic samples), 108 NET (98 nonfunctional pancreatic neuroendocrine tumor, NF-NET, and 10 functional pancreatic neuroendocrine tumor, F-NET), 9 acinar cell carcinoma (ACC), 3 pancreatoblastoma (PB), 54 pancreatic ductal adenocarcinoma (PDAC), 20 pancreatic serous cystadenoma (SCA), 19 pancreatic mucinous cystadenoma (MCA), 12 pancreatic ductal intraepithelial neoplasia (PanIN) and 5 intraductal papillary mucinous neoplasm (IPMN) samples. Our results indicate that ABCD1 holds promise as an easily applicable diagnostic marker with exceptional efficacy (AUC=0.999, sensitivity=99.10%, specificity=100%) for differentiating SPN from NET and other pancreatic neoplasms through immunohistochemical staining.
Topics: Humans; Pancreatic Neoplasms; Pancreas; Carcinoma, Pancreatic Ductal; Neuroendocrine Tumors; Pancreatic Ducts; Biomarkers, Tumor; ATP Binding Cassette Transporter, Subfamily D, Member 1
PubMed: 38567813
DOI: 10.1097/PAS.0000000000002205 -
BMC Gastroenterology Mar 2024Pancreatic tumors in children are uncommon, and data is scarce. The purpose of this study is to examine the prognostic factors of pediatric pancreatic tumors in a...
PURPOSE
Pancreatic tumors in children are uncommon, and data is scarce. The purpose of this study is to examine the prognostic factors of pediatric pancreatic tumors in a population-based cohort.
METHODS
The Surveillance, Epidemiology, and End Results (SEER) database was used to identify all pediatric patients with pancreatic tumors diagnosed between 1975 and 2018. The overall survival (OS) rates were determined using a Kaplan-Meier analysis. The log-rank test was used for univariate survival analysis. Cox proportional-hazards regression was used to determine the variables related to OS.
RESULTS
We identified 195 children with pancreatic tumors, with a median age at diagnosis of 16 years. Tumors were classified as neuroendocrine tumors (33.8%), solid pseudopapillary tumors (SPTs) (32.3%), pancreatoblastoma (11.3%), and others (22.6%). Of the patients, 30.3% had distant metastases, and 69.7% had surgery. Pancreatoblastomas were more common in younger children, whereas solid pseudopapillary tumors were more common in female patients. Overall 1-year, 3-year, and 5-year survival rates for all patients were 90.3%, 79.2%, and 77.7%, respectively. The Cox proportional hazard regression revealed that SEER stage and surgery were significant independent predictors of overall survival.
CONCLUSIONS
Pancreatic tumors are rare in children, and overall survival is grim except for SPTs. SEER stage and surgery were determined to be the most relevant determinants of OS in our study.
Topics: Humans; Child; Female; Adolescent; Prognosis; Survival Analysis; Kaplan-Meier Estimate; Pancreatic Neoplasms
PubMed: 38486208
DOI: 10.1186/s12876-024-03194-y -
Frontiers in Oncology 2024Pancreatoblastoma (PB) is a rare malignant pancreatic epithelial tumor that mostly occurs in children and occasionally occurs in adults. The tumor has acinar cell...
Pancreatoblastoma (PB) is a rare malignant pancreatic epithelial tumor that mostly occurs in children and occasionally occurs in adults. The tumor has acinar cell differentiation and squamous corpuscles/squamous epithelial islands, which are frequently separated by fibrous bundles. Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the presence of numerous adenomatous polyps in the colon and rectum. Cases of pancreatoblastoma combined with familial adenomatous polyposis (FAP) are rarely reported. A review of a rare case of adult pancreatoblastoma with atypical histological morphology combined with familial adenomatous polyposis is presented herein. In this case, the patient was first diagnosed with familial adenomatous polyposis and subsequently found to have pancreatoblastoma 1 year and 3 months later. This suggests pancreatoblastoma may occur in patients with familial adenomatous polyposis or a family history of the condition, indicating a possible association between the two tumors. Therefore, pancreatoblastoma should be included in a differential diagnosis for FAP patients with a pancreatic mass. The final diagnosis of pancreatoblastoma depends on the pathological diagnosis. Acinar-like cells and squamous corpuscles/squamous epithelial cell islands under light microscopy are the key diagnostic points. This case report also can improve the awareness of clinicians, radiologists, and pathologists on the presence of rare tumor-adult pancreatoblastoma in patients with familial adenomatous polyposis.
PubMed: 38482206
DOI: 10.3389/fonc.2024.1346964 -
Archives of Pathology & Laboratory... Feb 2024The examination of small pancreatic biopsies is a difficult task for pathologists. This is due to the scant and fragmented material often obtained from diagnostic...
CONTEXT.—
The examination of small pancreatic biopsies is a difficult task for pathologists. This is due to the scant and fragmented material often obtained from diagnostic procedures as well as the significant overlap between different neoplastic and nonneoplastic entities. In the upcoming neoadjuvant era, biopsies could become even more important, representing the only possibility to look at the real histomorphology of tumors before chemotherapy-induced modifications.
OBJECTIVES.—
To summarize and discuss the state-of-the-art diagnostic workflow for small pancreatic biopsies, including the most important morphologic and immunohistochemical features and molecular alterations. The main diagnostic pearls and pitfalls of this challenging scenario are also discussed. The most important topics of this review are represented by: (1) pancreatic ductal adenocarcinoma, along with its main differential diagnoses, including autoimmune pancreatitis; (2) solid hypercellular neoplasms, including neuroendocrine neoplasms, acinar cell carcinoma, pancreatoblastoma, and solid pseudopapillary neoplasms; and (3) cystic lesions. Real-world considerations will be also presented and discussed.
DATA SOURCES.—
Sources included a literature review of published studies and the author's own work.
CONCLUSIONS.—
The correct diagnosis of pancreatic lesions is a crucial step in the therapeutic journey of patients. It should be based on robust, standardized, and reliable hallmarks. As presented and discussed here, the integration of morphology with immunohistochemistry, and in selected cases, with molecular analysis, represents a decisive step in this complex scenario.
PubMed: 38387616
DOI: 10.5858/arpa.2023-0426-RA -
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