Yolk Sac Tumor in a Recurrence of Colonic Adenocarcinoma With Shared Mutations in APC and TP53 Genes: A Case Report

Only four cases of colorectal adenocarcinoma with a yolk sac tumor (YST) component have been reported in the English literature. No genetic investigation has been performed in these cases. We report a case of colorectal adenocarcinoma in which the recurrent tumor had a YST component. A 49-year-old woman presented with a pelvic tumor three years after endoscopic mucosal resection of sigmoid colon adenocarcinoma. The pelvic tumor consisted of an undifferentiated carcinoma component and a YST component. The serum alpha-fetoprotein level was elevated to 42 ng/mL. Treatment as conventional colorectal carcinoma produced some anticancer effects, but the patient died 14 months after the recurrence and 49 months after the EMR. With the help of the next-generation sequencing results of the recurrent tumor, APC c.835 − 8A > G and TP53 c.524G > A (p.R175H) mutations were identified by direct sequencing in both the primary and the recurrent tumors, confirming the relationship between the two metachronous tumors.

Spectrum of Nasopharyngeal Cancers Seen in the Department of Radiation Oncology University College Hospital, Ibadan

Background: Nasopharyngeal cancer was initially thought to be an uncommon disease in Nigeria, but recent studies have shown a steady increase in the incidence of the disease with an associated increase in morbidity and mortality due to late presentation. Method: This was a retrospective review of patients with nasopharyngeal cancer seen in the department of Radiation Oncology U.C.H. Ibadan from 2000 to 2009. Patient's bio-data, clinical-pathologic presentation and site of referral were retrieved using data extraction form and subsequently analysed using Micrsoft Exel (2013). Results: A total of 205 patients with histologically confirmed nasopharyngeal cancer seen during the study period were analysed. The mean age of the patients was 41.7 years with 144 (70.2%) males and 61(29.8%) females. The commonest presenting complaint was cervical lymphadenopathy in 98.5% of patients followed by nasal blockade, nasal discharge and epistaxis with 82.0%, 78.0% and 51.2% respectively. Undifferentiated carcinoma was the commonest histologic type (68.8%). Majority of patients were civil servants (33.2%). The habit of smoking and alcohol ingestion were unspecified in majority of patients (43.4%). Ingestion of smoked fish has been found in majority of patients 122(59.5%) with the disease in this study. Most of the patients came from southern part of the country which coincide with geographic distribution of Burkitt lymphoma, hence the possibility of Ebsteinbarr virus (EBV) as one of the likely causative agents. Conclusion: Nasopharyngeal cancer is common. Cervical lymphadenopathy, nasal blockade with undifferentiated histology and late presentation were the norm. Referrals were from all the regions of the country.

The ‘Maxillary Pull-through’ Technique: A Minimally Invasive Endoscopic-Assisted Approach to Nasal Septum Neoformations with Maxillary Bone Infiltration

Objective En-bloc maxillectomy with removal of the nasal septum is a rare procedure; preservation of the nasal bones and integrity of the alveolar ridge is even rarer. These procedures traditionally required a combined transfacial-transoral approach based on lateral rhinotomy. We describe a combined endoscopic transnasal-transoral approach for treatment of nasal septal malignancies that involve the hard palate. Study Design Description and validation of a surgical technique. Methods Excision of malignant tumours arising from the nasal septum was achieved in 4 patients using a transnasal-transoral endoscopic approach. Using 4-mm optics angled at 0° and 30°, the septum was freed from the ethmoid and removed en-bloc with the hard palate, by pulling the septum down through the hard palate. Results Of the 4 patients, 2 underwent complete removal of septal chondrosarcomas, one removal of a sinonasal undifferentiated carcinoma and one removal of a mucoepidermoid carcinoma. In two cases, the palatal mucosa was spared and repositioned to restore separation between the nose and oral cavity. The remaining two cases underwent complete resection of the hard palate; one palate was reconstructed using a pedicled temporalis muscle flap and the other by employing an obturator. No infection was encountered. Partial ethmoidectomy was performed in all four cases. The mean hospital stay was 5 days. All patients are free of disease after a mean follow-up of 4 years (range: 2–7 years). Conclusions Our new approach allows for minimally invasive resection of nasal septal malignancies that extend to the palate. Our maxillary pull-through technique is a valuable new surgical procedure for malignant pathologies of the nasal septum; the only drawback is that endoscopic surgery has a steep learning curve.

Prognostic Factors in Resected Pancreatic Ductal Adenocarcinoma: Is Neutrophil-Lymphocyte Ratio a Useful Marker?

Background: The aim of this study is to analyze the role of neutrophil-lymphocyte ratio and its variation pre and post-operatively (delta NLR) in overall survival after pancreatectomy for pancreatic ductal adenocarcinoma at a single centre and to identify factors associated with overall survival.Methods: A retrospective study of consecutive patients undergoing pancreatic resection due to PDAC or undifferentiated carcinoma from January 2010 to January 2020 was performed. Association between evaluated factors and overall survival were analyzed using a log-rank test and Cox proportional hazard regression model.Results: Overall, 242 patients underwent complete pancreatic resection for PDAC or undifferentiated carcinoma. OS was 22.8 months (95% CI: 19.5-29) and survival rates at 1, 3 and 5 years were 72%, 32.5% and 20.8% respectively. NLR and delta NLR were not significantly associated with survival (HR=1.14, 95%CI: 0.77-1.68, p=0.5). Lymph node ratio was significantly associated (HR=1.66, 95%CI: 1.21-2.26, p=0.001) in the bivariate analysis. In multivariable analysis the only factors that were significantly associated with survival were perineural invasion (HR=1.94, 95%CI: 1.21-3.14, p=0.006), surgical margin (HR=1.83, 95%CI: 1.10-3.02, p=0.019), tumor size (HR=1.01, 95%CI: 1.003-1.027, p=0.16), postoperative CA 19-9 level (HR=1.001, p<0.001), and completion of adjuvant treatment (HR=0.53, 95%CI: 0.35-0.8, p=0.002).Conclusion: Neutrophil-lymphocyte ratio and delta NLR were not associated with overall survival in this cohort. Risk factors such as perineural invasion, surgical margins, CA19-9 level and tumor size showed worse survival in this study, whereas completing adjuvant treatment was a protective factor.

SMARCA4/BRG1-Deficient Sinonasal Carcinoma: Morphologic Spectrum of an Evolving Entity

Context.— Molecular analysis of poorly differentiated/undifferentiated sinonasal neoplasms has resulted in identification of a growing number of genetically defined tumors. SMARCA4-deficient sinonasal carcinoma is one such recently described entity that emerged from within sinonasal undifferentiated carcinoma (SNUC), neuroendocrine carcinoma (NEC), and teratocarcinosarcoma (TCS). Objective.— To identify SMARCA4-deficient sinonasal carcinomas from a large institutional cohort of poorly differentiated/undifferentiated carcinomas and evaluate their clinicopathologic features. Design.— SMARCA4/BRG1 immunohistochemistry was performed on all tumors diagnosed as SNUC, poorly differentiated carcinoma, NEC, and TCS during a 12-year period. SMARCA2/BRM and INSM1 immunostaining was performed in SMARCA4-deficient cases. Results.— Twelve SMARCA4-deficient sinonasal carcinomas were identified among 299 cases. Morphologically, 5 cases were large cell NEC, 2 cases were small cell NEC, and 5 were TCS. SMARCA4 loss was diffuse and complete in 10 cases, while 2 cases showed focal retention. Most cases showed diffuse cytokeratin staining accompanied by weak, usually focal staining for chromogranin and synaptophysin. INSM-1 showed negativity in most cases. All cases showed retained SMARCA2 expression. IDH1/2 mutation was absent in all cases analyzed. Four of 7 patients died of disease, and aggressive multimodality treatment had better outcome. Conclusions.— SMARCA4-deficient sinonasal carcinomas are morphologically akin to sinonasal poorly differentiated NECs and TCS, display cytokeratin positivity and only focal staining for neuroendocrine markers, and have aggressive biological behavior. Inclusion of SMARCA4 in the immunohistochemical panel for diagnostic workup of all sinonasal NEC and TCS phenotypes will facilitate their early recognition. Comprehensive germline and somatic mutational analyses of these tumors are necessary for further insights into their molecular pathogenesis.