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Cancer Cytopathology Nov 2019Pancreatoblastoma (PBL) is a rare malignant pancreatic tumor seen predominantly in childhood, and its cytologic diagnosis remains challenging.
BACKGROUND
Pancreatoblastoma (PBL) is a rare malignant pancreatic tumor seen predominantly in childhood, and its cytologic diagnosis remains challenging.
METHODS
Twelve fine-needle-aspirations from 11 adults were analyzed.
RESULTS
In total, 6 men and 5 women (median age, 45 years; age range, 32-60 years) had tumors measuring a median 5.6 cm (range, 2.5-12 cm) located in the pancreatic head (n = 7) or tail (n = 4), including 3 with familial adenomatous polyposis (FAP)/FAP-related syndromes and 4 with metastasis at diagnosis. The median follow-up was 39.8 months (range, 0.8-348 months), and 5 patients died of disease. The original cytology diagnoses were: PBL (n = 2), neuroendocrine neoplasm (n = 2), poorly differentiated neuroendocrine carcinoma (n = 2), well differentiated neuroendocrine tumor (n = 1), poorly differentiated carcinoma (n = 2), "positive for malignancy" (n = 1), acinar cell carcinoma (n = 1), and epithelioid neoplasm with endocrine and acinar differentiation versus PBL (n = 1). Universal cytopathologic findings included hypercellularity; 3-dimensional clusters; and single, monotonous, blast-like cells that were from 1.5 to 2.0 times the size of red blood cells with high nuclear-to-cytoplasmic ratio, fine chromatin, small, distinct nucleoli, and a resemblance to well differentiated neuroendocrine tumor and poorly differentiated neuroendocrine carcinoma. Branching pseudopapillae (n = 7) and grooved nuclei (n = 3) raised the differential diagnosis of solid-pseudopapillary neoplasm, but with more atypia. Uncommon features included pleomorphism (n = 4) and numerous mitoses (n = 1). Squamoid morules were seen on smears (n = 5) or cell blocks (n = 6) in 70% of patients and were characterized by epithelioid cells with elongated, streaming nuclei, fine chromatin, absent nucleoli, and positive nuclear β-catenin (n = 6 of 8). The median Ki-67 index was 21% (range, 2%-70%), and neuroendocrine marker expression was common (100%), but acinar markers were variable (63%).
CONCLUSIONS
A combination of cytologic findings in PBL, including a predominant population of primitive blast-like cells, subtle squamoid morules, frequent neuroendocrine and variable acinar phenotype, should facilitate accurate cytologic diagnosis and distinction from common mimics.
Topics: Adenomatous Polyps; Adult; Biopsy, Fine-Needle; Diagnosis, Differential; Female; Humans; Immunohistochemistry; Male; Middle Aged; Pancreas; Pancreatic Neoplasms; Tumor Burden
PubMed: 31581358
DOI: 10.1002/cncy.22187 -
Journal of Pediatric Surgery Sep 2020To investigate the safety, feasibility, and complications of pancreatectomies for pediatric pancreatic tumors.
BACKGROUND
To investigate the safety, feasibility, and complications of pancreatectomies for pediatric pancreatic tumors.
METHODS
The medical records of pancreatectomy patients from January 2007 to January 2018 were retrospectively analyzed for perioperative factors and complications. Patients were divided into pancreatic head (n = 43), body (n = 18) and tail (n = 43) groups.
RESULTS
Seventy-two girls and 32 boys (median age 10 years at diagnosis, range: 0-15 years) were enrolled and had solid pseudopapillary tumors (n = 73), pancreatoblastoma (n = 19), neuroendocrine tumors (n = 9), and others. Primary surgical procedures included pylorus-preserving pancreaticoduodenectomy (n = 10) and distal pancreatectomy with splenectomy (n = 4), and organ-sparing resection procedures included duodenum-preserving pancreas head resection (n = 25), middle segmental pancreatic resection (n = 15), spleen-preserving distal pancreatectomy (n = 37) and local enucleation (n = 13), with a median blood loss of 20 cm (range: 10-300 cm). Short-term complications included pancreatic fistula (35.6%), bile leakage (2.9%), intraabdominal infection (21.2%), delayed gastric emptying (23.1%), and postpancreatectomy hemorrhage (5.8%). After a median follow-up of 38 months (range: 3-143 months), 94 patients (90.4%) were alive without tumor recurrence, 2 were alive after tumor recurrence, 1 pancreatoblastoma patient died from tumor recurrence, and 7 were lost to follow-up. Only 14 patients (14/96, 14.6%) had long-term complications at the outpatient follow-up.
CONCLUSIONS
Surgical resection was the main treatment for pancreatic tumors. Organ-sparing resection procedures led to good long-term results for pediatric pancreatic tumors, even if these procedures could cause a relatively high incidence of short-term complications (especially pancreatic fistula and postpancreatectomy hemorrhage).
LEVEL OF EVIDENCE
Level IV.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Neoplasm Recurrence, Local; Pancreas; Pancreatectomy; Pancreatic Neoplasms; Retrospective Studies
PubMed: 31575410
DOI: 10.1016/j.jpedsurg.2019.08.051 -
Modern Pathology : An Official Journal... Apr 2020Pancreatic acinar cell carcinoma is relatively rare (1 to 2% of pancreatic malignancies) but may be under-recognized. In contrast to pancreatic ductal adenocarcinoma,...
Pancreatic acinar cell carcinoma is relatively rare (1 to 2% of pancreatic malignancies) but may be under-recognized. In contrast to pancreatic ductal adenocarcinoma, most acinar cell carcinomas lack mutations in KRAS, DPC, CDKN2A or TP53, but appear to have a high incidence of gene rearrangements, with up to 20% reported to be driven by BRAF fusions. With the development of a new class of RET-specific tyrosine kinase inhibitors, which appear to have particularly strong activity against RET gene rearranged tumours, there is now considerable interest in identifying RET gene rearrangements across a wide range of cancers. RET rearrangements have been reported to occur at a very low incidence (<1%) in all pancreatic carcinomas. We postulated that given its unique molecular profile, RET gene rearrangements may be common in acinar cell carcinomas. We performed fluorescent in-situ hybridization (FISH) studies on a cohort of 40 acinar cell spectrum tumours comprising 36 pure acinar cell carcinomas, three pancreatoblastomas and one mixed acinar-pancreatic neuroendocrine tumour. RET gene rearrangements were identified in 3 (7.5%) cases and BRAF gene rearrangements in 5 (12.5%). All gene rearranged tumours were pure acinar cell carcinomas. Our findings indicate that amongst all pancreatic carcinomas, acinar carcinomas are highly enriched for potentially actionable gene rearrangements in RET or BRAF. FISH testing is inexpensive and readily available in the routine clinical setting and may have a role in the assessment of all acinar cell carcinomas-at this stage to recruit patients for clinical trials of new targeted therapies, but perhaps in the near future as part of routine care.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Biomarkers, Tumor; Carcinoma, Acinar Cell; Databases, Factual; Europe; Female; Gene Rearrangement; Genetic Predisposition to Disease; Humans; In Situ Hybridization, Fluorescence; Male; Middle Aged; Pancreatic Neoplasms; Proto-Oncogene Proteins B-raf; Proto-Oncogene Proteins c-ret; Young Adult
PubMed: 31558784
DOI: 10.1038/s41379-019-0373-y -
Pediatric Surgery International Nov 2019Pancreatoblastoma is a very rare malignant pancreatic tumor in children. Pancreatoblastoma is the most common pancreatic tumor in children less than 10 years of age,...
BACKGROUND
Pancreatoblastoma is a very rare malignant pancreatic tumor in children. Pancreatoblastoma is the most common pancreatic tumor in children less than 10 years of age, accounting for 25% of the pancreatic neoplasm. There were only a few published literatures about the standardized diagnostic and management protocol for PB in the last decade.
OBJECTIVE
To summarize our experience in the management of pancreatoblastoma in children and adolescents with emphasis on the presentation, diagnosis, treatment, and outcomes. A management strategy will also be discussed.
METHODS
This was a retrospective case-series study of all pancreatoblastoma in patients < 18 years of age who were treated at Beijing children's hospital (BCH) from January 2002-January 2015. The diagnoses of PB were confirmed by histopathology analysis of the resected specimen. The variables being analyzed included patient demographics, age at diagnosis, clinical presentation, tumor size, metastasis if present, tumor markers (AFP), type of surgery, length of follow-up, and outcome. The assessment of the tumor location, size, extent of the tumor, and distant metastasis was made by ultrasound (US), computed tomography (CT), and/or magnetic resonance imaging (MRI).
RESULT
21 patients with pancreatoblastoma were diagnosed at a median age of 4 years, 7 girls, and 14 boys. The diagnosis of pancreatoblastoma was identified by the histology examination. The most common syndrome was abdominal mass (n = 11), followed by abdominal pain (N = 10), elevated serum AFP levels were noted in almost all cases (17/18), 17 patients with disease initially unresectable on diagnosis accepted neo-adjuvant chemotherapy consisting of CDV, OPEC, PLADO, IEV, and AVCP. All patients underwent surgery, including pancreaticoduodenectomy (Whipple's procedure), the Pylorus-preserving pancreaticoduodenectomy (traverse-Longmire procedure), Spleen-preserving distal pancreatectomy, and distal pancreatectomy with en bloc splenectomy, Roux-en-Y end-to-end pancreatojejunostomy. In all, 13 children were disease free with a median follow-up of 53 months (range 11-156 months).
CONCLUSIONS
The pancreatoblastoma in children and adolescents is a malignant tumor. Complete resection combined with chemotherapy is associated with long-term survival. For the unresectable tumor at diagnosis, preoperative chemotherapy was recommended to reduce tumor volume. AFP is critical for diagnosis and monitoring the disease as a tumors marker.
Topics: Abdominal Pain; Chemotherapy, Adjuvant; Child; Child, Preschool; China; Disease-Free Survival; Female; Hospitals, Pediatric; Humans; Male; Pancreatectomy; Pancreatic Neoplasms; Pancreaticoduodenectomy; Pancreaticojejunostomy; Retrospective Studies; alpha-Fetoproteins
PubMed: 31338582
DOI: 10.1007/s00383-019-04524-y -
Clinical Nuclear Medicine Jan 2020Pancreatoblastoma is an extremely rare malignant tumor of the pancreas. Most patients are infants and children; however, a few cases have been reported in adults....
Pancreatoblastoma is an extremely rare malignant tumor of the pancreas. Most patients are infants and children; however, a few cases have been reported in adults. Herein, we present the case of a 49-year-old man with pancreatoblastoma and liver metastasis who underwent preoperative multimodal imaging, in which F-FDG PET/CT showed a markedly increased F-FDG uptake in the metastatic lesion and a slightly increased uptake in the primary lesion. Subsequently, the patient underwent complete resection of the primary and metastatic lesions. No recurrences or metastases were found in 2 years of follow-up.
Topics: Fluorodeoxyglucose F18; Follow-Up Studies; Humans; Liver Neoplasms; Male; Middle Aged; Pancreatic Neoplasms; Positron Emission Tomography Computed Tomography; Postoperative Period
PubMed: 31274558
DOI: 10.1097/RLU.0000000000002684 -
American Journal of Medical Genetics.... Sep 2019Pancreatoblastoma is a rare type of pancreatic cancer in children. Here, we describe a case in which Beckwith-Wiedemann syndrome (BWS) was first suspected because of...
Pancreatoblastoma is a rare type of pancreatic cancer in children. Here, we describe a case in which Beckwith-Wiedemann syndrome (BWS) was first suspected because of placental mesenchymal dysplasia. Although the baby did not show the stigmata characteristic of BWS or abnormal peripheral blood methylation, she developed a massive pancreatoblastoma 2 months later. She survived after partial excision of the tumor and chemotherapy. The methylation pattern of the pancreatoblastoma tissue was typical of BWS. Single nucleotide polymorphism (SNP) array analyzes revealed that the pancreatoblastoma tissue had genome-wide loss of maternal alleles. Peripheral blood and nontumor pancreatic tissue showed normal biparental genomic contribution. Interphase fluorescence in situ hybridization analysis with centromeric probes for chromosomes 2 and 11 revealed haploid pancreatoblastoma cells, whereas the placental mesenchymal dysplasia tissue and nontumor pancreas tissue showed diploidy. SNP genotype analysis suggested the presence of mosaicism with the pancreatoblastoma tissue having a different paternal haplotype than that of the peripheral blood and nontumor pancreatic tissue. We report for the first time mosaic paternal haploidy associated with pancreatoblastoma. Babies with placental mesenchymal dysplasia, even those without a definitive diagnosis of BWS, need to be closely followed for the occurrence of embryonic tumors.
Topics: Beckwith-Wiedemann Syndrome; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 2; DNA Methylation; Female; Genotype; Haploidy; Humans; In Situ Hybridization, Fluorescence; Infant; Infant, Newborn; Mesoderm; Mosaicism; Pancreatic Neoplasms; Paternal Inheritance; Placenta; Polymorphism, Single Nucleotide; Pregnancy; Uniparental Disomy
PubMed: 31231953
DOI: 10.1002/ajmg.a.61276 -
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 -
European Journal of Medical Genetics Jan 2020Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised disorder. The phenotypic manifestations of multilocus imprinting defects (MLIDs) remain...
Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised disorder. The phenotypic manifestations of multilocus imprinting defects (MLIDs) remain unclear. We report of an apparently non-syndromic infant with severe congenital hyperinsulinism (CHI) and diffuse pancreatic labelling by 18F*-DOPA-PET/CT leading to near-total pancreatectomy. The histology was atypical with pronounced proliferation of endocrine cells comprising >70% of the pancreatic tissue and a small pancreatoblastoma. Routine genetic analysis for CHI was normal in the blood and resected pancreatic tissue. At two years' age, Beckwith-Wiedemann Syndrome (BWS) stigmata emerged, and at five years a liver tumour with focal nodular hyperplasia and an adrenal tumour were resected. pUPD was detected in 11p15 and next in the entire chromosome 11 with microsatellite markers. Quantitative fluorescent PCR with amplification of chromosome-specific DNA sequences for chromosomes 13, 18, 21 and X indicated GW-pUPD. A next generation sequencing panel with 303 SNPs on 21 chromosomes showed pUPD in both blood and pancreatic tissue. The mosaic distribution of GW-pUPD ranged from 31 to 35% in blood and buccal swap to 74% in the resected pancreas, 80% in a non-tumour liver biopsy, and 100% in the liver focal nodular hyperplasia and adrenal tumour. MLID features included transient conjugated hyperbilirubinaemia and lack of macrosomia from BWS (pUPD6); and behavioural and psychomotor manifestations of Angelman Syndrome (pUPD15) on follow-up. In conclusion, atypical pancreatic histology in apparently non-syndromic severe CHI patients may be the first clue to BWS and multi-syndromal CHI from GW-pUPD. Variations in the degree of mosaicism between tissues explained the phenotype.
Topics: Beckwith-Wiedemann Syndrome; Child, Preschool; Chromosomes, Human; Congenital Hyperinsulinism; DNA Methylation; Female; Genetic Predisposition to Disease; Genome, Human; Genomic Imprinting; Humans; Mosaicism; Organ Specificity; Phenotype; Polymorphism, Single Nucleotide; Uniparental Disomy
PubMed: 30797057
DOI: 10.1016/j.ejmg.2019.02.004 -
European Journal of Cancer (Oxford,... Mar 2019Although all tumours are rare in childhood, there are some particularly rare paediatric cancers which have not benefited from advances made by the international...
Defining and listing very rare cancers of paediatric age: consensus of the Joint Action on Rare Cancers in cooperation with the European Cooperative Study Group for Pediatric Rare Tumors.
Although all tumours are rare in childhood, there are some particularly rare paediatric cancers which have not benefited from advances made by the international paediatric oncology network. To establish a shared definition and produce a list of these entities, the European Union Joint Action on Rare Cancers (JARC) promoted a consensus effort. The definition was based on the incidence rates estimated using the information network on rare cancers (RARECAREnet) database, pooling data from 94 population-based cancer registries and 27 countries. The RARECAREnet list of cancers was used to estimate the incidence rates. This list groups cancers by combining the International Classification of Diseases for Oncology, third edition, morphology and topography codes. According to the consensus, very rare paediatric cancers were identified as those with an annual incidence <2/1000000 and corresponded to 11% of all cancers in patients aged 0-14 years. Two subgroups were identified: tumour types typical of childhood (i.e. hepatoblastoma, pleuropulmonary blastoma, pancreatoblastoma) and those typical of adult age (i.e. carcinomas, melanoma). The threshold of 2/1000000 could also be adopted in populations aged 0-19 years: in this case, three tumour types had an incidence rate which was >2/1000000 (i.e. thyroid and testicular cancers and skin melanoma), but the consensus experts considered them as 'very rare' according to their clinical needs (e.g. shortage of knowledge and clinical expertise as the other rare paediatric cancers). The JARC consensus produced a definition and a list of very rare paediatric cancers which may represent a starting point for prioritising research on these tumours, based on data and patients' clinical needs.
Topics: Adolescent; Child; Consensus; Europe; Humans; Incidence; Neoplasms; Rare Diseases; Registries
PubMed: 30785015
DOI: 10.1016/j.ejca.2018.12.031 -
Journal of Indian Association of... 2018Whipple's pancreaticoduodenectomy (WPD) is rarely required in children. However, WPD is the only option with pathologies involving the head of the pancreas requiring...
PURPOSE
Whipple's pancreaticoduodenectomy (WPD) is rarely required in children. However, WPD is the only option with pathologies involving the head of the pancreas requiring surgical excision. The objective of our study was to review our experience with WPD performed on children.
MATERIALS AND METHODS
A retrospective analysis of case records was conducted on all patients <18 years of age, who underwent WPD at our center over the last 20 years. Data regarding demographics, signs, and symptoms at presentation, diagnostic imaging and procedures, pathologic reports, surgical and medical treatment, and follow-up were collected to study the indications and safety and outcomes of WPD in children.
RESULTS
Five patients had been planned for a WPD during the study (1995-2015); but in one patient, the procedure was abandoned, the rest four patients formed the study group. Male to female ratio was 3:1. Median age at the time of surgery was 9 years (11 months-12 years). The most common presentation was obstructive jaundice (50%, 2/4). Radiological imaging was able to accurately predict the surgical procedure required in all except one case. The mean operating time was 205 min (180-240 min). There were no intraoperative complications. The mean intraoperative blood loss was 85 mL (20-150 mL). The youngest patient requiring WPD was an 11-month-old child. Oral feeding was established by the 7 postoperative day (range 5-7 days) in all cases. There were no cases of anastomotic leak or pancreatic or jejunal fistulae. One patient developed features of subacute intestinal obstruction after discharge and required re-exploration. There was no intra- or post-operative mortality.
CONCLUSION
WPD is safe and efficacious procedure in a selected group of children. The overall efficacy of surgical treatment combined with the relatively low severity of complications leads us to recommend WPD in children when indicated.
PubMed: 30443117
DOI: 10.4103/jiaps.JIAPS_35_18