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Schistosomiasis is an infectious disease caused by parasitic flatworms of the genus Schistosoma. The species Schistosoma mansoni is associated with hepatosplenic disease. Schistosomiasis involving the gallbladder alone is highly unusual, with a few cases reported. Herein, we present the case of a woman from a region with endemic schistosomiasis who presented with a painless solid lesion and wall thickening of the gallbladder. She underwent an uneventful laparoscopic cholecystectomy. Microscopic examination of the surgical specimen revealed Schistosoma mansoni eggs associated with granulomatous reaction, leading to the diagnosis of schistosomiasis of the gallbladder, prompting subsequent treatment with praziquantel and follow-up. This case illustrates the importance of suspicion for this diagnosis in endemic areas, as it can be misdiagnosed with malignancy if not examined microscopically. Complications and treatment strategies are poorly characterized for the few cases of schistosomiasis; reporting this case can serve as a helpful reminder of a rare presentation of this disease., Competing Interests: Conflict of interest: The authors have no conflict of interest to declare., (Copyright: © 2024 The Authors.)

We evaluated the prevalence of pathogenic/likely pathogenic germline variants (PGV) in Brazilian pancreatic adenocarcinoma (PC) patients, that represent a multiethnic population, in a cross-sectional study. We included 192 PC patients unselected for family history of cancer. We evaluated a panel of 113 cancer genes, through genomic DNA sequencing and 46 ancestry-informative markers, through multiplex PCR. The median age was 61 years; 63.5% of the patients presented disease clinical stages III or IV; 8.3% reported personal history of cancer; 4.7% and 16.1% reported first-degree relatives with PC or breast and/or prostate cancer, respectively. Although the main ancestry was European, there was considerable genetic composition admixture. Twelve patients (6.25%) were PGV carriers in PC predisposition genes (ATM, BRCA1, BRCA2, CDKN2A, MSH2, PALB2) and another 25 (13.0%) were PGV carriers in genes with a limited association or not previously associated with PC (ACD, BLM, BRIP1, CHEK2, ERCC4, FANCA, FANCE, FANCM, GALNT12, MITF, MRE11, MUTYH, POLE, RAD51B, RAD51C, RECQL4, SDHA, TERF2IP). The most frequently affected genes were CHEK2, ATM and FANC. In tumor samples from PGV carriers in ACD, BRIP1, MRE11, POLE, SDHA, TERF2IP, which were examined through exome sequencing, the main single base substitutions (SBS) mutational signature was SBS1+5+18, probably associated with age, tobacco smoking and reactive oxygen species. SBS3 associated with homologous repair deficiency was also represented, but on a lower scale. There was no difference in the frequency of PGV carriers between: (a) patients with or without first-degree relatives with cancer; and (b) patients with admixed ancestry versus those with predominantly European ancestry. Furthermore, there was no difference in overall survival between PGV carriers and non-carriers. Therefore, genetic testing should be offered to all Brazilian pancreatic cancer patients, regardless of their ancestry. Genes with limited or previously unrecognized associations with pancreatic cancer should be further investigated to clarify their role in cancer risk., (© 2024. The Author(s).)

Background: Solid pseudopapillary neoplasm of the pancreas is an uncommon pancreatic tumor, which is more frequent in young adult women. Familial adenomatous polyposis is a genetic condition associated with colorectal cancer that also increases the risk of developing other tumors as well., Aim: The aim of this study was to discuss the association of familial adenomatous polyposis with solid pseudopapillary neoplasm of the pancreas, which is very rare., Methods: We report two cases of patients with familial adenomatous polyposis who developed solid pseudopapillary neoplasm of the pancreas of the pancreas and were submitted to laparoscopic pancreatic resections with splenic preservation (one male and one female)., Results: ß-catenin and Wnt signaling pathways have been found to play an important role in the tumorigenesis of solid pseudopapillary neoplasm of the pancreas, and their constitutive activation due to adenomatous polyposis coli gene inactivation in familial adenomatous polyposis may explain the relationship between familial adenomatous polyposis and solid pseudopapillary neoplasm of the pancreas., Conclusion: Colonic resection must be prioritized, and a minimally invasive approach is preferred to minimize the risk of developing desmoid tumor. Pancreatic resection usually does not require extensive lymphadenectomy for solid pseudopapillary neoplasm of the pancreas, and splenic preservation is feasible.

Frantz tumors or solid pseudopapillary pancreatic neoplasm (SPN) are rare exocrine neoplasms that carry a favorable prognosis; they represent up to 3% of all tumors located in the region of the pancreas and have specific age and gender predispositions. In recent years, the rising curve of diagnosis is entitled to the evolution and access of diagnostic imaging. In this paper, we have retrospectively reviewed and described the clinical course of 40 patients with SPN from three institutions in Brazil, who had their diagnosis between 2005 and 2020, and analyzed the clinicopathological, genetic, and surgical aspects of these individuals. In accordance with the literature, most patients were women, 60% with unspecified symptoms at diagnosis, with tumors mainly located in the body and tail of the pancreas, of whom 70% underwent a distal pancreatectomy with sparing splenectomy as a standard procedure, and none of the cases have experienced recurrence to date. Surgery still remains the mainstay of treatment given the low metastatic potential, but more conservative approaches as observed in this cohort are evolving to become the standard of care. Herein, we present an in-depth analysis of cases focusing on the latest literature and report some of the smallest tumor cases in the literature. To our knowledge, this is the first report evaluating germline genetic testing and presenting a case of detected Li-Fraumeni syndrome.

Background: Mucinous cyst neoplasm of the liver (MCN-L) comprise less than 5% of all cystic liver lesions and is characterized by the presence of ovarian stroma and absence of bile duct communication., Case Presentation: Here, we discuss a 45-year-old woman who presented with symptomatic liver mass. Diagnostic workup detected a 4.2 × 3.6 cm septate cyst located in segments I, V, and VIII of the liver in communication with the right hepatic duct. An open right liver resection with total bile duct excision and hilar lymphadenectomy was performed. Pathology revealed a multiloculated cyst with lined mucinous epithelium and ovarian-like stroma, consistent with low-grade MCN-L., Conclusions: This case shows that unusual location and bile duct communication can be present in MCN-L.

Aim: Prognostic differences between major histologic gastric cancer groups, intestinal and diffuse are uncertain, since cellular components in each of them possibly have different behaviors., Materials & Methods: We reviewed 198 gastric cancer patients charts diagnosed from January 2003 to December 2015 in a tertiary hospital. Multivariate Cox proportional survival models were used to evaluate the impact of histologic groups on overall survival., Results: About a third had the signet-ring cell carcinoma (SRCC). In a comparison of the different histologic subtypes, SRCC had the worst prognosis of all. The median durations of survival for patients with stage III and stage IV were 19.7 and 7.7 months, respectively., Conclusion: Signet-ring cell component seem to have a relevant role in defining prognosis for gastric cancer.

Introduction: Synchronous occurrence of different types of neoplasms is not very frequent, representing around 6% of all cases of cancer. Usually there is a lack of information on how to treat these patients, especially when both types of cancers are also uncommon. No cases of synchronous gallbladder adenocarcinoma and gastric gastrointestinal stromal tumor have been published before., Presentation of Case: We present the case, management and follow-up, of a 66-year-old female with incidental diagnosis of a pT2NxMx gallbladder adenocarcinoma after elective cholecystectomy that latter, during staging, was also diagnosed with GIST. Total gastrectomy, wedge resection of the liver and lymphadenectomy were performed due to the new findings. Adjuvant chemotherapy for 36 months was indicated. After 16 months of the treatment she has no signs of recurrence., Discussion: Gastrointestinal stromal tumors (GISTs) had a turnaround in the end of the 20th century after the introduction tyrosine-kinase inhibitor to the adjuvant treatment and now the trend is to extend it up to 36 months in selected patients. Gallbladder adenocarcinoma is an uncommon cancer but the incidental diagnosis is increasing with the popularity of laparoscopic cholecystectomy and, thus, specific management should be offered for these patients, what frequently includes a complementary surgery. Although, GISTs may be associated with another synchronous tumor in 20% of the cases, the simultaneous occurrence with gallbladder cancer is incredibly rare., Conclusion: Simultaneous occurrence of gastric GIST and gallbladder adenocarcinoma has not been reported before and, thus, any information about it may help in the management of those patients., (Copyright © 2019. Published by Elsevier Ltd.)