Solid Pseudopapillary Neoplasm of the Pancreas and Abdominal Desmoid Tumor in a Patient Carrying Two Different BRCA2 Germline Mutations: New Horizons from Tumor Molecular Profiling.
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SUBMITTER: Mafficini A
PROVIDER: S-EPMC8065547 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Solid pseudopapillary neoplasm (SPN) of the pancreas is a low-grade malignant neoplasm that accounts for ~5% of cystic pancreatic tumors and ~0.9‑2.7% of exocrine pancreatic tumors. The transcription profiling data (GSE43795) of 14 SPN and 6 control samples were downloaded from the Gene Expression Omnibus (GEO) database. Using the Limma package, Student's t‑tests were performed to identify differentially expressed genes (DEGs) between SPN and control samples [with the following criterion: False discovery rate (FDR)<0.01 and log2 fold‑change (FC)≥3]. Pathway and functional enrichment analyses were performed to investigate the biological processes that the DEGs were involved in. Protein‑protein interaction (PPI) network and sub‑network analyses were conducted to comprehensively understand the interactions between DEGs. The screened DEGs were further annotated according to information relating to transcription factors and tumor associated genes (TAGs). A total of 710 upregulated and 710 downregulated DEGs were observed, including 74 transcriptional factors and 124 TAGs. Membrane metallo‑endopeptidase (MME), matrix metalloproteinase (MMP)-2 and MMP‑9 were also identified as key TAGs. Following PPI network analysis, hub nodes of epidermal growth factor receptor (EGFR), proto‑oncogene tyrosine protein kinase Fyn (FYN), c‑JUN (JUN), glucagon (GCG), c‑Myc (MYC) and CD44 were identified, the majority of which participate in the epidermal growth factor receptor (ErbB) and gonadotropin-releasing hormone (GnRH) signaling pathways. A sub‑network involving 70 gene nodes was also identified, with EGFR as the central gene. MME, MMP‑2 and MMP‑9 contribute to proliferative diabetic retinopathy and also involved in SPN. The genes EGFR, FYN, JUN, GCG, MYC and CD44 may therefore be key genes in SPN, and the ErbB and GnRH signaling pathways may be an important contributor to SPN progression.
| S-EPMC5562055 | biostudies-literature
Project description:Introductionand importance: Solid pseudopapillary tumor of the pancreas (SPN) or Frantz's tumor is a rare tumor of low malignant potential common in young women. The aim of this paper is to present and discuss a case of a solid pseudopapillary tumor of the pancreas occurring in a 19-year-old female.Case presentationA 19-year-old girl presented to our department with epigastric pain for two months, she had no clinical findings on physical examination. Abdominal Computed tomography scan (CT scan) showed the presence of a well-defined tumor arising from the pancreatic head measuring 9,1 × 8.1 × 8.5 cm, heterogeneous and with solid and necrosis components. The patient was subjected to surgery and histopathological examination confirmed the diagnosis of a pseudopapillary tumor of the pancreas.Clinical discussionThis is an interesting case report of a rare tumor, in so far as without any adjuvant chemotherapy Prognosis of the tumor is better than other pancreatic tumors. surgical resection seems to be the best strategy in the management of SPT.ConclusionClose follow up is necessary for early detection of the recurrence and metastasis.
| S-EPMC8361288 | biostudies-literature
Project description:ObjectiveSolid pseudopapillary neoplasm (SPN) of the pancreas is a rare tumor. This study aims to examine the clinicopathological features and surgical treatments of SPN and compare the clinical behavior and prognosis between men and women with SPN.MethodsWe collected the population data of patients with SPN diagnosed between 2004 and 2017 from the SEER database. The Kaplan-Meier method was used to analyze overall survival (OS) and disease-specific survival (DSS), and log-rank tests were used to evaluate the differences between subgroups. Univariate and multivariate Cox regression analyses were performed to screen out prognostic risk factors of SPN.ResultsA total of 378 patients with SPN were included, with 246 (65.1%) female patients. 1-, 3-, and 5-year overall survival rates were 98.9%, 95.7%, and 93.7%, respectively. Survival analysis revealed that regardless of stage, patients with SPN who underwent surgical interventions still had a significantly better prognosis than those without surgical interventions (P < .001). The patients with lymphatic dissection had a significantly better prognosis than those without lymphatic dissection (P < .001). Moreover, compared with female patients, male patients had significantly poorer OS and DSS (P < .001). Female SPN showed a bimodal age-frequency distribution with early-onset incidence at 28 years and late-onset peak incidence at 62 years, while male SPN presented a unimodal distribution with peak incidence at approximately age 64 years. In female patients, the tumor size in premenopausal females (<65 years old) was significantly larger than that in postmenopausal females (≥65 years old) (P < .001). Clinicopathological characteristic profiles were different not only between male SPN and premenopausal female SPN but also between premenopausal and postmenopausal female SPN.ConclusionSPN presents indolent behavior and predominantly occurs in young women. Regardless of stage, surgical intervention is recommended. Moreover, our study is the first large enough study to demonstrate sex-related discrepancies in SPN. Thus, different treatment strategies should be designed for patients of different sexes at different ages and hormone therapy is a promising approach for SPN.
| S-EPMC7433837 | biostudies-literature
Project description:BACKGROUND:Solid pseudopapillary neoplasm (SPN) of the pancreas is an extremely rare neoplasm with a favorable prognosis. On the other hand, pancreatic invasive ductal carcinoma (IDC) is known to be an aggressive malignancy. To the best of our knowledge, there is no report of SPN combined with IDC of the pancreas. CASE PRESENTATION:A 66-year-old woman presented with abnormal genital bleeding and was diagnosed with inoperable cervical cancer. During computed tomography for cancer staging, the patient was incidentally diagnosed with pancreatic cancer. After radiation therapy for the cervical cancer, distal pancreatectomy with D2 lymph node dissection was performed. A postoperative pathological examination revealed SPN with ossification and well-differentiated IDC in the pancreatic body. On immunohistochemical staining, SPN tumor cells showed positive ?-catenin and CD10 staining, whereas IDC cells were negative for both. The tumor boundaries were clear. Accordingly, the final pathological diagnosis was synchronous SPN and IDC of the pancreas. Moreover, pathological findings such as the ossification and small number of SPN cells suggested that SPN may have existed long before IDC initiation. CONCLUSIONS:Here, we report the first case of SPN combined with IDC of the pancreas. They may occur independently, and the long-term presence of SPN may lead to the development of IDC.
| S-EPMC7413936 | biostudies-literature
Project description:BackgroundSolid pseudopapillary neoplasms (SPNs) of the pancreas are rare tumors considered to be benign although 10% to 15% of SPNs have been reported to be aggressive. Due to its rarity, there have only been a few cases reported regarding the clinical course of patients with aggressive SPNs. The goal of this study is to describe the clinical course of patients diagnosed with aggressive SPNs.MethodsA PubMed search was done looking for articles describing the clinical course of patients diagnosed with SPN that locally invaded, recurred, or metastasized. Institutional experience was also added to the pooled data. Patient information was extracted from the articles. Survival and recurrence curves were plotted and factors associated with survival and recurrences were analyzed.ResultsA total of 59 patients were identified to have aggressive SPN. Seven patients were males and 52 were females and the mean age was 37.44?±?2.21 years. Systemic metastasis constituted 81.4% while recurrence and deep tissue invasion were found in 11.9% and 6.8% of the patients, respectively. Disease-free survival was 45?±?6.28 months and disease-specific survival was 152.67?±?12.8 months. In survival analysis, age, gender, tumor size, tumor location, combined resection, type of recurrence, and stage IV on diagnosis were not significant factors in predicting survival. However, an unresectable tumor (hazards ratio [HR]?=?4.871, 95% confidence interval [CI] 1.480-16.03, P?=?.009), and metastasis within 36 months (HR?=?6.399, 95% CI: 1.390-29.452, P?=?.017) were identified as independent variables in predicting survival.ConclusionSPNs of the pancreas carry a favorable course. Despite having aggressive properties, patients can still survive for more than 10 years as long as the tumor can be resected completely.
| S-EPMC6310540 | biostudies-literature
Project description:RationaleThere is controversy regarding the optimal surgical approach for pancreatic lesions in the center of the pancreas. Duodenum-preserving pancreatic cental resection compared with pancreaticoduodenectomy is technically more challenging, but preserves more functional pancreatic tissue.Patient concernsA 34-year-old woman was admitted to our department on March 15, 2017. Computed tomographic's and magnetic resonance cholangiopancreatography's diagnosis was a solitary tumor 3.0 × 2.2-cm lesion located in border between pancreatic neck and body. The patient's condition was good and symptomless, without any disease history. Physical examination and routine blood investigations were normal. All pancreatic malignant tumor biological markers were negative.DiagnosesSolid pseudopapillary neoplasm (SPN) of pancreas.InterventionsTotal laparoscopic central pancreatectomy with Roux-Y pancreaticojejunostomy was performed, and unscheduled open surgery was done for abdominal pain caused by intraperitoneal bleeding.OutcomesThe recovery was smooth after unscheduled open surgery. At the end of 20 months follow-up, she was well and showed no signs of recurrence.LessonsThe anatomy of the operation is clearer and easier than open surgery because of the magnification effect of laparoscopy. Total laparoscopic central pancreatectomy is safe, effective, feasible for SPN of pancreas, and it should be equally applicable to some other pancreatic cystic neoplasms and neuro-endocrine tumors. Suture is the best measure to prevent postoperative angiorhagia of intraperitoneal cavity.
| S-EPMC6504324 | biostudies-literature
Project description:BackgroundThe role of progesterone receptor (PR) has been reported in a series of pancreatic cysts. However, the relationship between PR and prognosis of solid pseudopapillary neoplasm of the pancreas (SPNP) has not been elucidated so far. The aim of our study was to evaluate the prognostic value of PR in SPNP.MethodsA total of 76 patients with SPNP treated in our institution from January 2012 to December 2017 were included. Demographic parameters, laboratory data, pathologic information and clinical outcomes were analyzed by the use of survival analysis. In addition, a pooled case series was performed to evaluate the results.ResultsThe institutional data included 76 patients (17 male and 59 female) ranging from 8 to 90 years (median, 30 years) in age. Kaplan-Meier survival analysis confirmed negative PR result was significantly associated with poorer disease-free survival (DFS) and disease-specific survival (DSS) (both P < 0.001). In the pooled analysis, a total of 62 studies comprising 214 patients with SPNP were included. After multivariable cox analysis, negative PR result remained an independent prognostic factor for SPNP (DFS HR: 14.50, 95% CI: 1.98-106.05, P = 0.008; DSS HR: 9.15, 95% CI: 1.89-44.17, P = 0.006).ConclusionOur results indicated the role of PR in predicting adverse outcome of patients with SPNP and negative PR result may serve as a potential prognostic factor.
| S-EPMC6295102 | biostudies-literature
Project description:Background Desmoid tumors are benign soft tissue tumors that locally invade adjacent tissue. There is a paucity of reports describing the rapid growth of these tumors during pregnancy. Case A giant desmoid tumor arising from the left abdominal wall of a young female patient with rapid growth during pregnancy is described. Preoperative evaluation included ultrasonography and magnetic resonance imaging. Decision made by a multidisciplinary team was not to intervene before birth, and abdominal delivery at term was accomplished. Conclusion Desmoid tumors should be part of the differential diagnosis in an abdominal wall tumor of rapid growth during pregnancy. Future studies are needed for better understanding of the pathogenesis, diagnosis, and treatment of desmoid tumors in pregnant women.
| S-EPMC4502627 | biostudies-other
Project description:Solid pseudopapillary neoplasm (SPN) of the pancreas is rare relatively low-grade malignant neoplasm and metastasis rarely. Surgical resection is the primary treatment option for primary and metastatic lesions of SPN, and chemotherapy is often ineffective in non-operable SPNs. SPNs are characterized by the presence of somatic CTNNB1 exon 3 mutations, leading to the activation of Wnt/β-catenin/Cox-2 signal pathway. Here, we firstly report that a refractory liver metastatic pancreatic SPN patient after the failure of multi-line chemotherapies benefited from the Cox-2 selective inhibitor (Celecoxib) based on CTNNB1 D32V mutation detected by next-generation sequencing (NGS), achieving a more than 22-month progression-free survival without any adverse events. Our case provides a potential treatment option for liver metastatic SPN patients with CTNNB1 mutations and highlights the application of NGS for the better treatment decision making.
| S-EPMC9650638 | biostudies-literature
Project description:Solid pseudopapillary tumor of the pancreas (SPT) is a rare pancreatic disease with a unique clinical manifestation. Although CTNNB1 gene mutations had been universally reported, genetic variation profiles of SPT are largely unidentified. We conducted whole exome sequencing in nine SPT patients to probe the SPT-specific insertions and deletions (indels) and single nucleotide polymorphisms (SNPs). In total, 54 SNPs and 41 indels of prominent variations were demonstrated through parallel exome sequencing. We detected that CTNNB1 mutations presented throughout all patients studied (100%), and a higher count of SNPs was particularly detected in patients with older age, larger tumor, and metastatic disease. By aggregating 95 detected variation events and viewing the interconnections among each of the genes with variations, CTNNB1 was identified as the core portion in the network, which might collaborate with other events such as variations of USP9X, EP400, HTT, MED12, and PKD1 to regulate tumorigenesis. Pathway analysis showed that the events involved in other cancers had the potential to influence the progression of the SNPs count. Our study revealed an insight into the variation of the gene encoding region underlying solid-pseudopapillary neoplasm tumorigenesis. The detection of these variations might partly reflect the potential molecular mechanism.
| S-EPMC5297715 | biostudies-literature