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Journal of Indian Association of... 2016Clinicoradiological and histopathological differentiation of pancreatoblastoma from hepatoblastoma can often be a challenge in clinical practice owing to their peculiar...
Clinicoradiological and histopathological differentiation of pancreatoblastoma from hepatoblastoma can often be a challenge in clinical practice owing to their peculiar resemblance. We report a case of a 4-year-old boy with a right hypochondriac region mass, which was diagnosed as hepatoblastoma on the basis of imaging, raised tumor marker, and biopsy; however, pancreatic origin of the mass was ascertained on exploration and pancreatoblastoma was confirmed on histopathology.
PubMed: 27046982
DOI: 10.4103/0971-9261.176969 -
The American Journal of Surgical... Mar 2015Adrenocorticotropic hormone (ACTH)-secreting pancreatic neuroendocrine tumors (PanNETs), although rare, are responsible for about 15% of ectopic Cushing syndrome (CS).... (Review)
Review
Adrenocorticotropic hormone (ACTH)-secreting pancreatic neuroendocrine tumors (PanNETs), although rare, are responsible for about 15% of ectopic Cushing syndrome (CS). They represent a challenging entity because their preoperatory diagnosis is frequently difficult, and clear-cut morphologic criteria useful to differentiate them from other types of PanNETs have not been defined. Ectopic ACTH secretion associated with CS can also be rarely due to pancreatic acinar cell carcinoma (ACC) and pancreatoblastoma, rare tumor types with morphologic features sometimes overlapping those of PanNETs and, for this reason, representing a diagnostic challenge for pathologists. We herein describe the clinicopathologic and immunohistochemical features of 10 PanNETs and 1 ACC secreting ACTH and associated with CS together with an extensive review of the literature to give the reader a comprehensive overview on ACTH-producing pancreatic neoplasms. ACTH-secreting PanNETs are aggressive neoplasms with an immunohistochemical profile that partially overlaps that of pituitary corticotroph adenomas. They are generally large and well-differentiated neoplasms without distinctive histologic features but with signs of aggressiveness including vascular and perineural invasion. They are more frequent in female individuals with a mean age of 42 years. At 5 and 10 years after diagnosis, 35% and 16.2% of patients, respectively, were alive. ACTH-secreting ACCs and pancreatoblastomas are very aggressive pediatric tumors with a poor prognosis. Using an appropriate immunohistochemical panel including ACTH, β-endorphin, trypsin, and BCL10 it is possible to recognize ACTH-secreting PanNETs and to distinguish them from the very aggressive ACTH-secreting ACCs.
Topics: ACTH Syndrome, Ectopic; Adolescent; Adrenocorticotropic Hormone; Adult; Biomarkers, Tumor; Cushing Syndrome; Diagnosis, Differential; Female; Humans; Immunohistochemistry; Italy; Kaplan-Meier Estimate; Male; Middle Aged; Neuroendocrine Tumors; New York City; Pancreatic Neoplasms; Predictive Value of Tests; Time Factors; Treatment Outcome
PubMed: 25353285
DOI: 10.1097/PAS.0000000000000340 -
Pediatric Surgery International Aug 2016Pancreatic neoplasms are uncommon in children. This study sought to analyze the clinical and pathological features of surgically resected pancreatic tumors in children...
PURPOSE
Pancreatic neoplasms are uncommon in children. This study sought to analyze the clinical and pathological features of surgically resected pancreatic tumors in children and discuss management strategies.
METHODS
We conducted a retrospective review of patients ≤21 years with pancreatic neoplasms who underwent surgery at a single institution between 1995 and 2015.
RESULTS
Nineteen patients were identified with a median age at operation of 16.6 years (IQR 13.5-18.9). The most common histology was solid pseudopapillary neoplasm (SPN) (n = 13), followed by pancreatic neuroendocrine tumor (n = 3), serous cystadenoma (n = 2) and pancreatoblastoma (n = 1). Operative procedures included formal pancreatectomy (n = 17), enucleation (n = 1) and central pancreatectomy (n = 1). SPNs were noninvasive in all but one case with perineural, vascular and lymph node involvement. Seventeen patients (89.5 %) are currently alive and disease free at a median follow-up of 5.7 (IQR 3.7-10.9) years. Two patients died: one with metastatic insulinoma and another with SPN who developed peritoneal carcinomatosis secondary to a concurrent rectal adenocarcinoma.
CONCLUSIONS
Pediatric pancreatic tumors are a heterogeneous group of neoplastic lesions for which surgery can be curative. SPN is the most common histology, is characterized by low malignant potential and in selected cases can be safely and effectively treated with a tissue-sparing resection and minimally invasive approach.
Topics: Adolescent; Chemotherapy, Adjuvant; Cystadenoma, Serous; Female; Humans; Male; Neuroendocrine Tumors; Pancreatectomy; Pancreatic Neoplasms; Retrospective Studies
PubMed: 27364750
DOI: 10.1007/s00383-016-3925-y -
Clinical Journal of Gastroenterology Apr 2018The authors describe a 31-year-old man admitted due to progressive weight loss, diarrhea and massive hepatomegaly. Laboratory data showed anemia (haemoglobin...
The authors describe a 31-year-old man admitted due to progressive weight loss, diarrhea and massive hepatomegaly. Laboratory data showed anemia (haemoglobin 11.7 g/dl), abnormal liver tests (total bilirubin 1.4 g/dl, aspartate aminotransferase 70 U/l, alanine aminotransferase 37 U/l and alkaline phosphatase 520 U/l). Abdominal ultrasound (US) displayed a large heterogeneous liver with a segment IV 25 mm nodule. Magnetic resonance revealed a 4 cm pancreatic tail mass and several liver nodules consistent with metastasis. The patient underwent an endoscopic ultrasound (EUS) with fine needle aspiration (FNA) from the pancreatic mass and liver metastasis with cytological evaluation consistent with a pancreatoblastoma, later confirmed through a percutaneous US-guided liver biopsy. During the inpatient period, liver function deteriorated and acute kidney injury developed. Severe progressive cachexia was observed. The patient was discharged on renal replacement therapy and palliative care. Death occurred 3 months after diagnosis. Pancreatoblastoma is an uncommon pancreatic malignant epithelial cancer of the pancreas, typically occurring in the paediatric population. Adult pancreatoblastoma is extremely rare, with about 40 cases reported in the literature and generally presenting a more aggressive biologic and clinical behaviour. Surgical resection is the treatment of choice, but most cases are detected in advanced stages. This case underlines the ability to establish a pancreatoblastoma cytology-based diagnosis with EUS-FNA, and confirms the associated poor outcome.
Topics: Adult; Biopsy, Fine-Needle; Endosonography; Fatal Outcome; Humans; Liver Neoplasms; Magnetic Resonance Imaging; Male; Pancreatic Neoplasms; Positron Emission Tomography Computed Tomography
PubMed: 29285688
DOI: 10.1007/s12328-017-0812-6 -
PancreasPediatric pancreatoblastoma (PBL) is a rare disease, and the treatment of which is diverse. The molecular alteration in pancreatoblastoma is not very clear. A 7-year-old...
Pediatric pancreatoblastoma (PBL) is a rare disease, and the treatment of which is diverse. The molecular alteration in pancreatoblastoma is not very clear. A 7-year-old female who presented with intermittent abdominal pain, anorexia, and abdominal mass was admitted in our hospital. Pancreaticoduodenectomy, cholecystectomy, and retroperitoneal lymph node dissection were conducted. Immunohistochemistry results after surgery showed creatine kinase +, clusters differentiation 56 -, clusters differentiation 99 +, carcinoembryonic antigen -, periodic acid-Schiff +, B- catenin +, Ki-67 + 70%, progesterone receptor +, neuron-specific enolase -, vimentin -, and insulin -. According to the cell shape and the results of immunohistochemistry, the patient was diagnosed with PBL. The tumor tissue, adjacent tissue, and blood were collected. Mutation profiles were detected using next-generation sequencing technique with a panel of 704 genes. The child recovered well without complications postoperatively. There were 261 genes mutated in her plasma or tumor tissue (mutant frequency ≥1%). The adjacent tissue and plasma harbored the echinoderm microtubule-associated protein-like 4 gene-anaplastic lymphoma kinase fusion and tumor tissue harbored proto-oncogene receptor tyrosine kinase 1-solute carrier family 34 member A2 fusion. The gene alteration profiles of PBL patients warrant further investigations, which may provide new insight into the treatment of this disease.
Topics: Abdominal Pain; Anorexia; Child; Female; Genetic Testing; Humans; Pancreatectomy; Pancreatic Neoplasms
PubMed: 35041346
DOI: 10.1097/MPA.0000000000001926 -
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 -
American Journal of Clinical Pathology Dec 2017To characterize the expression of SOX11 and TFE3 proteins in solid-pseudopapillary neoplasms (SPNs) and their histologic mimickers.
OBJECTIVES
To characterize the expression of SOX11 and TFE3 proteins in solid-pseudopapillary neoplasms (SPNs) and their histologic mimickers.
METHODS
Immunohistochemistry for SOX11, TFE3, and β-catenin was performed on 31 cases of surgically resected SPNs. Neuroendocrine tumors, acinar cell carcinomas, and pancreatoblastomas served as controls.
RESULTS
Nuclear immunoreactivity for SOX11 was detected in all SPNs and five of 31 control tumors. Nuclear immunoreactivity for TFE3 was detected in 30 SPNs and three control tumors. Nuclear immunoreactivity for β-catenin was detected in all SPNs and four control tumors. The combination of three markers as immunohistochemical panels resulted in optimal sensitivity and specificity.
CONCLUSIONS
Both SOX11 and TFE3 were overexpressed in SPNs and may be involved in the pathogenesis. Clinically, SOX11 and TFE3 can be potentially used as diagnostic markers in distinguishing indeterminate SPNs from their histologic mimickers.
Topics: Adolescent; Adult; Aged; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Biomarkers, Tumor; Carcinoma, Acinar Cell; Child; Cohort Studies; Female; Humans; Immunohistochemistry; Male; Middle Aged; Neuroendocrine Tumors; Pancreas; Pancreatic Neoplasms; SOXC Transcription Factors; Sensitivity and Specificity; Young Adult
PubMed: 29272888
DOI: 10.1093/ajcp/aqx142 -
Pancreatology : Official Journal of the... Apr 2020Pancreatoblastoma is a rare malignancy that occurs predominantly in children. Less than 50 adult cases, including 17 patients with metastatic disease, have been...
BACKGROUND
Pancreatoblastoma is a rare malignancy that occurs predominantly in children. Less than 50 adult cases, including 17 patients with metastatic disease, have been published to date. Recent outcome data from children with advanced-stage disease suggest an intensive multimodal treatment approach; however, little is known about the most beneficial therapy in adults. Molecular characterization of pancreatoblastoma is limited to a small number of pediatric cases and revealed few recurrent genetic events without immediate clinical relevance.
METHODS
Patients were treated between 2013 and 2018 at a high-volume German university cancer center. Molecular analyses included whole genome, exome, transcriptome, and fusion gene panel sequencing. Molecularly guided treatment recommendations were discussed within a dedicated molecular tumor board (MTB) embedded in a precision oncology program (NCT MASTER).
RESULTS
We identified four adult patients with metastatic pancreatoblastoma. In three patients, local approaches were combined with systemic treatment. Oxaliplatin-containing protocols showed an acceptable tumor control as well as an adequate toxicity profile. Overall survival was 15, 17, 18 and 24 months, respectively. Three tumors harbored genetic alterations involving the FGFR pathway that included an oncogenic FGFR2 fusion.
CONCLUSION
Oxaliplatin-containing chemotherapy seems to be a reasonable approach in adult patients with advanced pancreatoblastoma, whereas the benefit of intensified treatment including local ablative techniques or surgical resection remains unclear. Our finding of FGFR alterations in three of four cases indicates a potential role of FGFR signaling in adult pancreatoblastoma whose clinical significance warrants further study.
Topics: Adult; Antineoplastic Agents; Chromosome Mapping; Combined Modality Therapy; Exome; Female; Gene Fusion; Genome, Human; Humans; Male; Neoplasm Metastasis; Oxaliplatin; Pancreatic Neoplasms; Pancreaticoduodenectomy; Precision Medicine; Receptor, Fibroblast Growth Factor, Type 2; Survival Analysis; Transcriptome; Young Adult
PubMed: 32156527
DOI: 10.1016/j.pan.2020.02.017 -
Seminars in Diagnostic Pathology Nov 2014Pancreatic neoplasms with acinar differentiation, including acinar cell carcinoma, pancreatoblastoma, and carcinomas with mixed differentiation, are distinctive...
Pancreatic neoplasms with acinar differentiation, including acinar cell carcinoma, pancreatoblastoma, and carcinomas with mixed differentiation, are distinctive pancreatic neoplasms with a poor prognosis. These neoplasms are clinically, pathologically, and genetically unique when compared to other more common pancreatic neoplasms. Most occur in adults, although pancreatoblastomas usually affect children under 10 years old. All of these neoplasms exhibit characteristic histologic features including a solid or acinar growth pattern, dense neoplastic cellularity, uniform nuclei with prominent nucleoli, and granular eosinophilic cytoplasm. Exocrine enzymes are detectable by immunohistochemistry and, for carcinomas with mixed differentiation, neuroendocrine or ductal lineage markers are also expressed. The genetic alterations of this family of neoplasms largely differ from conventional ductal adenocarcinomas, with only rare mutations in TP53, KRAS, and p16, but no single gene or neoplastic pathway is consistently altered in acinar neoplasms. Instead, there is striking genomic instability, and a subset of cases has mutations in the APC/β-catenin pathway, mutations in SMAD4, RAF gene family fusions, or microsatellite instability. Therapeutically targetable mutations are often present. This review summarizes the clinical and pathologic features of acinar neoplasms and reviews the current molecular data on these uncommon tumors.
Topics: Carcinoma; Carcinoma, Acinar Cell; Humans; Pancreatic Neoplasms
PubMed: 25441307
DOI: 10.1053/j.semdp.2014.08.003 -
Pediatric Blood & Cancer Apr 2023
Topics: Humans; Pancreatic Neoplasms; Guanine Nucleotide Exchange Factors
PubMed: 36519595
DOI: 10.1002/pbc.30155