Solid pancreatic masses in children: A review of current evidence and clinical challenges

Patterson, Kelli N.; Trout, Andrew T.; Abu‐El‐Haija, Maisam; Nathan, Jaimie D.

doi:10.3389/fped.2022.966943

Cited by 16 publications

(26 citation statements)

References 234 publications

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“…The median age of the patients in our study was 31 years, with pediatric patients accounting for 19% and young patients accounting for 58.1%, which is consistent with other reports [19][20][21] . Irtan S [22] reported that SPNs in the adult group were mainly located in the tail of the pancreas, and those in the pediatric group were mainly located in the head of the pancreas.…”

Section: Discussionsupporting

confidence: 92%

Analyses of CTNNB1 mutation, β-catenin expression and clinicopathological characteristics in 179 cases of solid-pseudopapillary neoplasm of the pancreas

Zhao,

Wang,

et al. 2023

Preprint

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Solid-pseudopapillary neoplasm (SPN) of the pancreas is a low-grade malignant tumour, that mainly affects young females. Given its typical clinical characteristics, histopathological morphology and immunohistochemical nuclear expression of β-catenin, it is usually not difficult to diagnose SPN. However, nuclear expression of β-catenin is occasionally negative or false negative in SPN, leading to a missed diagnosis. In this study, we aimed to investigate the clinical significance of CTNNB1 mutation detection for diagnosing SPN and explore the difference in clinicopathological characteristics between female and male patients at different ages. We detected point mutations in exon 3 of CTNNB1 in 74.3% (133/179) of SPNs by Sanger sequencing. The main mutation sites were D32 (26%), S33 (23%), S37 (21%), G34 (14%) and T41 (11%). In the 3 SPNs without nuclear expression of β-catenin, Sanger sequencing showed the S33C mutation in exon 3 of CTNNB1 in two cases but not in one case in which next-generation sequencing detected the S37C mutation. Therefore, for atypical cases, testing for CTNNB1 mutations can help in the accurate diagnosis of SPN. The median age of the 179 patients was 31 years (6 ~ 64 years), and there were 32 male patients (17.9%) in this cohort. The tumour size, Ki-67 index, and the negative rates of β-catenin nuclear expression and syn expression in the paediatric group were higher than those in youth group and old group (P < 0.05 for all). There was no significant difference in age, tumour site; tumour size; expression of β-catenin, CD10, PR, Vimentin or Syn; Ki-67 index; or proportion of CTNNB1 mutations between male and female patients (P < 0.05 for all). Compared with middle-aged and elderly patients, paediatric with SPN may be more prone to recurrence, and their immunohistochemical phenotype is more complex, requiring additional care in the diagnosis and postoperative follow-up.

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Section: Discussionsupporting

confidence: 92%

Analyses of CTNNB1 mutation, β-catenin expression and clinicopathological characteristics in 179 cases of solid-pseudopapillary neoplasm of the pancreas

Zhao,

Wang,

et al. 2023

Preprint

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“…Patients with high-risk factors such as, large tumor size (>8cm), synchronous metastasis, lymphovascular invasion, pancreatic parenchymal invasion, and a high Ki-67 index (>4%), are related with recurrence. (10,(19)(20)(21)(22)(23) The WHO criteria for high grade transformation of SPN include "deep invasion into the surrounding tissue". (14,24) However, the definition of this criterion may be ambiguous.…”

Section: Resultsmentioning

confidence: 99%

“…16 children with SPN were treated during this period (88% girls). The median age of presentation was 12 years (IQR [9][10][11][12][13][14]. All children presented with abdominal pain.…”

Section: Methodsmentioning

confidence: 99%

Pediatric solid pseudopapillary neoplasm of the pancreas

Samuel,

Boddu,

Sebastian

et al. 2023

Preprint

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Background: Solid pseudopapillary neoplasm of the pancreas (SPN) in children is rare tumor with low malignant potential. Some tumors however behave aggressively. There is very little literature on the management of these variants especially in children. We share our experience of managing large and recurrent SPN and explore the clinicopathological findings correlating to the risk of recurrence. Methods: This is a retrospective study of children who were treated for SPN between 2012 and 2022 at a tertiary care center in India. The clinicopathological features and management strategies in these children were evaluated. Results: 16 children with SPN were treated during this period (88% girls). The median age of presentation was 12 years (IQR 9-14). All children presented with abdominal pain. Computed tomography gave a definitive diagnosis in 81% of cases. The tumor predominantly involved the head of the pancreas (n=9, 56%). Eight of nine children classified as high-grade malignant had a benign course. One child had a recurrence of the tumor 4 years after the initial resection and further recurrence on chemotherapy. She required radiation therapy in addition to reoperation following which she is disease free for 77 months. The overall median follow-up was 46 months (IQR 18-72 months). Conclusion: Complete resection of the tumor provides a cure in most patients with SPN. Recurrent tumors require a multi-modality approach. Long-term survival is good. Better prognostic criteria with immunohistochemistry are required to predict the behavior of these tumors as the WHO criteria for malignancy correlate poorly with clinical outcomes in childhood SPN.

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“…In children, PDAC is associated with the worst prognosis of any pancreatic malignancy [3,7]. Amongst seven children and adolescents diagnosed with PDAC in the SEER 21 database, the fteen-year survival rate was 21% [2,4].…”

Section: Introductionmentioning

confidence: 99%

A FANCC intronic variant of uncertain significance in a child with metastatic pancreatic adenocarcinoma

Magnan,

Williams,

Wang

et al. 2024

Preprint

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Background Pancreatic ductal adenocarcinoma (PDAC) has been reported to have a germline genetic association in about 5.5% of isolated cases and 10–13% of familial or hereditary cohorts. Studies are linking new germline variants to PDAC annually, with numerous variants of uncertain significance (VUS) in candidate genes being reported. Case presentation: A 9-year-old boy presented with a 3-week history of abdominal pain, weight loss, and vomiting, with subsequent development of jaundice and pruritis. Imaging revealed an obstructive abnormality in the head of the pancreas with extra- and intrahepatic dilation of the bile ducts and a 1 c lesion in the liver. Biopsy of the liver lesion revealed metastatic PDAC. Extensive pathology review demonstrated atypical epithelial proliferation forming irregular and anastomosing glands. Germline evaluation was conducted with a 29-gene pancreatic cancer panel and revealed a c.345 + 6A > T VUS in the FANCC gene. This VUS affects a nucleotide in the consensus splice site in intron 4. The tumor was microsatellite stable with a tumor mutation burden of 3.4 Mutations/Mb. The child started chemotherapy with several cycles of FOLFIRINOX followed by Gemcitabine/Nab-paclitaxel but ultimately experienced tumor progression. He then pursued additional cancer directed therapy outside of our institution. As of the last evaluation, the child is alive with progressive disease. Conclusions Pancreatic adenocarcinoma is essentially unheard of in children under 10 years old. In adults, PDAC has been associated with a variety of cancer predisposition genes, and the National Comprehensive Cancer Network® (NCCN®) has issued surveillance guidelines for adults carrying germline variants in TP53, BRCA1/2, ATM, PALB2, CDKN2A, among others. Emerging data has identified germline FANCC variants in patients with PDAC. Further studies of FANCC variants of uncertain significance are necessary for variant reclassification and to allow review of current screening guidelines in adults.

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Solid pancreatic masses in children: A review of current evidence and clinical challenges

Cited by 16 publications

References 234 publications

Analyses of CTNNB1 mutation, β-catenin expression and clinicopathological characteristics in 179 cases of solid-pseudopapillary neoplasm of the pancreas

Analyses of CTNNB1 mutation, β-catenin expression and clinicopathological characteristics in 179 cases of solid-pseudopapillary neoplasm of the pancreas

Pediatric solid pseudopapillary neoplasm of the pancreas

A FANCC intronic variant of uncertain significance in a child with metastatic pancreatic adenocarcinoma

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