Pediatric pancreatic epithelial tumors

2024-09-10   Paola Dal Cin, PhD , Rita Alaggio, MD 

1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
2.IRCCS Ospedale Bambino Gesu', Roma (Italy)

Keywords
Pediatric digestive system, pediatric pancreas tumor

Classification

Definition

Pancreatic tumors are rare in pediatric patients. Most pancreatic tumors in children are benign, and the prognosis is relatively good compared with that in adults. 1 Reported malignant epithelial pancreatic tumors in pediatric patients include pancreatoblastomas (PB) and acinar cell carcinomas. Solid pseudopapillary tumors (SPPT), is the most common pancreatic neoplasm in young population. 2  Solid pseudopapillary tumors (SPPTs) are associated with excellent prognosis, even in patients with metastatic disease. Pancreatoblastoma may have a favorable prognosis when the disease is limited to the pancreas and is treated by complete surgical resection. Pancreatoblastoma may be associated with Beckwith–Wiedemann syndrome 3 Rare pancreatoblastomas may arise in adults, especially in the context of familial adenomatous polyposis. 4

Pediatric pancreatic epithelial tumorsGenetic marker(s)
Pancreatoblastoma (PB)Pancreatoblastoma cases are associated with familial adenomatous polyposisis OMIM:175100 and Beckwith-Wiedemann syndrome. OMIM:130650. 5 Somatic alterations in  CTNNB1 and APC, aberrant imprinting of IGF2 including CN-LOH at 11p15.5 and enhanced R-spondin/LGR5/RNF43 module are so far reported. 6
Pancreatic acinar cell carcinoma (PACC)Molecular data in a few pediatric PACC revealed BRAF alterations as fusions PPP1CC::BRAF, AGAP3::BRAF, SEC31A::BRAF and BRAF V600E mutations, 7-10 suggesting driver role of BRAF alterations in both pediatric adults PACC.
Solid pseudopapillary neoplasm (SPPN) They comprise the majority of pediatric pancreatic neoplasms and mostly are indolent lesions, but few do have malignant potential. 2 Single case with complex karyotype. 11 Single‐cell RNA sequencing revealed that the Wnt/β‐catenin pathway was associated with primary tumorigenesis, while the MYC and EMT pathways may play a role in the recurrence of SPPN. 12

Article Bibliography

Reference NumberPubmed IDLast YearTitleAuthors
1349186452021Malignant pancreatic tumor other than solid pseudopapillary tumor in pediatric patients: A single-center experience.Kim D et al
2311292392019Comparison of Pediatric and Adult Solid Pseudopapillary Neoplasms of the Pancreas.Waters AM et al
3160809452005Pancreatoblastoma associated with incomplete Beckwith-Wiedemann syndrome: case report and review of the literature.Muguerza R et al
4116964222001Distinctive molecular genetic alterations in sporadic and familial adenomatous polyposis-associated pancreatoblastomas : frequent alterations in the APC/beta-catenin pathway and chromosome 11p.Abraham SC et al
5351806202022Pancreatoblastoma in children: Clinical management and literature review.Liu T et al
6292339282018Integrated Molecular Characterization of the Lethal Pediatric Cancer Pancreatoblastoma.Isobe T et al
7329187742021Targetable BRAF and RAF1 Alterations in Advanced Pediatric Cancers.Rankin A et al
8350507542020Pediatric BRAF (V600E)-Mutated Pancreatic Acinar Cell Carcinoma With Complete and Durable Response to Dabrafenib and Trametinib.Cramer S et al
9359490612022AGAP3: A novel BRAF fusion partner in pediatric pancreatic-type acinar cell carcinoma.Paoli C et al
10388221752024Paediatric pancreatic acinar cell carcinoma with a novel SEC31A-BRAF fusion gene.Li T et al
11163647632006Previously unidentified complex cytogenetic changes found in a pediatric case of solid-pseudopapillary neoplasm of the pancreas.Kempski HM et al
12367219802023Single-cell RNA sequencing of solid pseudopapillary neoplasms of the pancreas in children.Meng L et al

Citation

Paola Dal Cin, PhD ; Rita Alaggio, MD

Pediatric pancreatic epithelial tumors

Atlas Genet Cytogenet Oncol Haematol. 2024-09-10

Online version: http://atlasgeneticsoncology.org/solid-tumor/209263/pediatric-pancreatic-epithelial-tumors