Rare case of adult pancreatoblastoma

Morrissey, George; Cohen, Patrizia; Julve, Maximilian

doi:10.1136/bcr-2019-233884

Cited by 6 publications

(11 citation statements)

References 3 publications

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“…In this context, recurrent alterations of genes involved in the Wnt/β-catenin pathway, such as APC and CTNNB1, a loss of heterozygosity on chromosome 11p, imprinting dysregulation and overexpression of IGF2, as well as an isolated case with EWSR1::FLI1 fusion have been reported. 16,18,25,37,40,[42][43][44][59][60][61] The present study also confirmed that at least a subset of pancreatoblastoma also contain structural chromosomal alterations with several large regions of loss and gain, as in patient 3 of our study. Nevertheless, these data are difficult to evaluate, as no target genes for these large chromosomal alterations have yet been identified.…”

Section: Discussionsupporting

confidence: 89%

“…[3][4][5]39,56 These neoplasms may show overlapping clinical (high alpha-fetoprotein level, slow tumor growth), morphological (nested, acinar, papillary, or solid growth pattern), IHC (acinar and/or neuroendocrine differentiation), and genetic findings (CTNNB1 mutation in pancreatoblastoma and pancreatic solid pseudopapillary neoplasm, loss of 11p in almost 50% of acinar cell carcinoma, and many pancreatoblastoma); however, their prognosis is usually better in comparison with pancreatic adenocarcinoma. [3][4][5]16,18,19,23,25,39,45,[54][55][56][57][58][59][60][61] Pancreatoblastoma is the most common pancreatic neoplasm of childhood, but is very uncommon in adult patients (Supplementary Tables 1, 2, and 3). This tumor may show multiple lines of differentiation, most conspicuously acinar, growing in solid, nesting, and/or acinar patterns.…”

Section: Discussionmentioning

confidence: 99%

“…Nevertheless, there were no significant differences between our clinical and pathological findings and the previously published data as discussed later. 4,13,18,21,41,[43][44][45][46][47][48][49][50][51][52][53][54][55][56][59][60][61] In terms of morphology, at low power, pancreatoblastoma usually presents large lobules of highly cellular tissue separated by broad fibrous bands. [1][2][3][4][5][6][7][8][9][10] The presence of squamoid corpuscles is essential for an accurate diagnosis, although they are sometimes difficult to find, especially when dealing with Tru-Cut or limited biopsy.…”

Section: Discussionmentioning

confidence: 99%

“…APC and CTNNB1 mutations seem to be mutually exclusive and are usually associated with strong nuclear β-catenin immunoreactivity. 16,18,25,37,40,[42][43][44][59][60][61] Abraham et al…”

Section: Discussionmentioning

confidence: 99%

“…In contrast with adult pancreatoblastoma, acinar cell carcinoma, and pancreatic solid pseudopapillary neoplasm, pancreatic ductal adenocarcinoma displays frequent genetic alterations involving KRAS, CDKN2A, TP53, and SMAD4, while CTNNB1 mutations are very uncommon in pancreatic ductal adenocarcinoma. 5,13,56,[59][60][61] Based on their shared histologic and molecular features, the question arises as to whether adult pancreatoblastoma, acinar cell carcinoma, and pancreatic solid pseudopapillary neoplasm are distinct entities, or if they represent the same entity but demonstrating either a different or overlapping clinicopathological spectrum. The main goal of the present study is to describe the clinical, pathological and molecular findings of 3 new adult pancreatoblastomas, including 2 with autopsy findings.…”

Section: Introductionmentioning

confidence: 99%

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Adult Pancreatoblastoma: Report of 3 new Cases With Genetic Diversity and Autopsy Findings

et al. 2022

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We report the histopathological, immunohistochemical (IHC), and molecular findings in 3 patients with adult pancreatoblastoma, including 2 with autopsy features. The tumors were located in the tail and body of the pancreas, and the 2 autopsy examinations revealed liver and lung metastases. Histopathologically the neoplasms were composed of solid epithelial elements with nested or trabecular growth patterns, fibrous stroma, and squamoid clusters. Keratin 19 was positive mainly in squamoid corpuscles, and trypsin or chymotrypsin was positive in the acinar component. Neuroendocrine differentiation was observed in all tumors, and nuclear β-catenin expression in 2 tumors. Despite nuclear β-catenin expression, CTNNB1 mutation was found only in tumor 2. APC mutation was detected in tumor 1, and SMAD4 as well as MEN1 mutations in tumor 3. This last tumor also revealed chromosomal instability with many chromosomal losses and gains. The follow-up showed regional or distant metastases in all patients. Two patients died of disease after 3 and 26 months of follow-up and 1 patient is alive with no evidence of disease 6 years and 2 months after surgery. Adult pancreatoblastoma can display genetic heterogeneity, diverse histological appearance, and overlapping IHC findings. As a result, the differential diagnosis with other adult pancreatic tumors, such as acinar cell carcinoma, neuroendocrine neoplasm, solid pseudopapillary neoplasm, and mixed tumors may be challenging, especially when dealing with limited tumor tissue. The identification of squamoid corpuscles is essential for diagnosis. Although molecular findings might provide useful information, the integration of clinical, radiological, and histopathological findings is essential in pancreatoblastoma diagnosis.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…APC and CTNNB1 mutations seem to be mutually exclusive and are usually associated with strong nuclear β-catenin immunoreactivity. 16,18,25,37,40,[42][43][44][59][60][61] Abraham et al…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Adult Pancreatoblastoma: Report of 3 new Cases With Genetic Diversity and Autopsy Findings

et al. 2022

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Diagnosis, treatment, and prognosis of adult pancreatoblastoma

Yuan,

Guo,

2024

Cancer Medicine

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BackgroundPancreatoblastoma (PB) is one of the rare malignant tumors that typically occurs in children. Cases of PB in adults are highly unusual. This disease often presents with subtle symptoms and lacks characteristic clinical manifestations, leading to diagnostic challenges.ObjectiveThis study integrates the relevant literature on adult PB, conducting data analysis on clinical features, laboratory and imaging results, pathological characteristics, and treatments according to inclusion and exclusion criteria. Kaplan–Meier univariate analysis and Log‐rank tests are employed to analyze survival data from adult PB follow‐up, exploring factors influencing prognosis.ResultsA total of 65 articles were included, encompassing 103 cases of adult PB. The average age of PB patients was 41.78 years (range 19–81 years), and the male‐to‐female ratio was 1.06:1. Patients frequently presented with abdominal pain as the initial symptom. Laboratory results lacked specificity and imaging findings often presented as large, well‐defined masses. PB exhibited distinctive pathological features, including squamous corpuscles (n = 76, 89.41%) and acinar differentiation (n = 34, 40%), with frequent positive expression of Trypsin, Chymotrypsin, and AACT (Alpha‐1‐Antichymotrypsin). APC (Adenomatous Polyposis Coli) gene mutation was the most common molecular alteration in adult PB. During the follow‐up period, 43.59% of patients died (range 3 days to 348 months). The primary factors affecting prognosis were the presence of metastasis (χ2 = 3.996, p = 0.046) and incomplete surgical resection (χ2 = 5.586, p = 0.018), with mean survival times of 48 months and 27 months, respectively.ConclusionsPB in adults is an invasive tumor. The key to distinguishing PB from other pancreatic tumors lies in recognizing its unique pathological feature, the squamous corpuscles. Timely and complete surgical resection is the preferred treatment following diagnosis. Patients with incomplete resection or the presence of lymph nodes or (and) distant metastases have a poor prognosis.

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A narrative review on rare types of pancreatic cancer: should they be treated as pancreatic ductal adenocarcinomas?

de Jesus,

Donadio,

de Brito

et al. 2024

Ther Adv Med Oncol

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Pancreatic cancer is one of the deadliest malignancies in humans and it is expected to play a bigger part in cancer burden in the years to come. Pancreatic ductal adenocarcinoma (PDAC) represents 85% of all primary pancreatic malignancies. Recently, much attention has been given to PDAC, with significant advances in the understanding of the mechanisms underpinning disease initiation and progression, along with noticeable improvements in overall survival in both localized and metastatic settings. However, given their rarity, rare histological subtypes of pancreatic cancer have been underappreciated and are frequently treated as PDAC, even though they might present non-overlapping molecular alterations and clinical behavior. While some of these rare histological subtypes are true variants of PDAC that should be treated likewise, others represent separate clinicopathological entities, warranting a different therapeutic approach. In this review, we highlight clinical, pathological, and molecular aspects of rare histological types of pancreatic cancer, along with the currently available data to guide treatment decisions.

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Rare case of adult pancreatoblastoma

Cited by 6 publications

References 3 publications

Adult Pancreatoblastoma: Report of 3 new Cases With Genetic Diversity and Autopsy Findings

Adult Pancreatoblastoma: Report of 3 new Cases With Genetic Diversity and Autopsy Findings

Diagnosis, treatment, and prognosis of adult pancreatoblastoma

A narrative review on rare types of pancreatic cancer: should they be treated as pancreatic ductal adenocarcinomas?

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