IntroductionHuman epidermal growth factor receptor 2 (HER2) amplification is present in almost 15%–20% of breast cancer tumors, making it an important parameter for testing. The present study was designed to evaluate a chip-based digital PCR (dPCR) system for assessing HER2 amplification from formalin-fixed paraffin-embedded breast carcinoma tissue and to compare this system with immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH).Materials and methodsA total of 84 breast carcinoma tissue samples were analyzed by IHC, FISH, and chip-based dPCR in a blinded manner.ResultsAll nine IHC-positive and 35 IHC-negative samples had equivalent results with dPCR, taking an amplification ratio threshold of 1.8 as a positive result. Of the 40 IHC equivocal samples, 10 were assessed as positive, 27 as negative, and three as equivocal by dPCR.ConclusionThese results demonstrate that chip-based dPCR is suitable for HER2 amplification detection in formalin-fixed paraffin-embedded samples in a clinical setting, providing the advantages of superior turnaround time, cost-effectiveness, and increased precision with absolute quantification compared with conventional tests such as FISH and IHC. This methodology was especially beneficial in tissue samples with low DNA concentration.
Background: Inflammatory myofibroblastic tumor is an uncommon tumor. It commonly affects the lung but it can be found anywhere in the body. Case Report: We are reporting a case of caecal mass presenting as recurrent intussusceptions. Histopathology and immunohistochemistry confirmed it to be an inflammatory myofibroblastic tumor of caecum. Immunohistochemistry of tumor cells were positive for vimentin, smooth muscle actin, MIB 1, and CD 45 in lymphoid cells in the stroma of the tumor. Conclusion: Recurrent intussusception should be kept as one of the differential diagnosis in patient with caecal mass with recurrent abdominal pain. Inflammatory myofibroblastic tumor of the caecum is unusual in paediatric patients and may present as recurrent intussusception.
A gastric duplication cyst is not a common anomaly of the alimentary tract. The most common site of alimentary tract duplication is the ileum. We found a non-communicating gastric duplication cyst, along with the greater curvature of the stomach during feeding gastrostomy for isolated Oesophageal atresia. We are reporting a gastric duplication cyst associated with isolated Oesophageal atresia and left side one additional floating rib. This is the third case report of gastric duplication cyst with Oesophageal atresia in English literature.
Background Esophageal Squamous Cell Carcinoma(ESCC) comprises 90% of esophageal cancer worldwide which typically presents at advanced stages and has extremely poor outcomes. Established risk factors for ESCC include tobacco, alcohol and betel nut use. We hypothesized that a screening program for high risk subjects could be established in a low- to middle-income country, using a low-cost, non-endoscopic, retrievable capsule sponge device called EsophaCap(EC). Methods The Institutional Review Board-approved study was conducted in western India from March 2017 through February 2018. Patients with high risk characteristics(smoking, tobacco, betel nut, alcohol, hot beverage consumption) were included. Patients with severe dysphagia, current upper aerodigestive tract cancer, metastatic cancer, esophageal varices, cirrhosis, and portal hypertension were excluded. Following EC specimen retrieval, endoscopic biopsies were collected at 20cm, 30cm and from any visible mucosal abnormalities. Cytology and biopsy specimens underwent H&E staining. An interim analysis was performed to make necessary changes given the lack of baseline data in this field. Results Of the 100 enrolled subjects(85% males, median age 50 years), 93% successfully swallowed the EC and 90% completed endoscopy. The median patient experience score on a 6-point visual analog scale was 5(‘minimal discomfort’). Six(7%) subjects had ESCC on their biopsy. In 2 ESCC patients with mild dysphagia, sponge cytology accurately detected atypical squamous cells(ASC) and dysplasia(100% Sensitivity & Specificity). The other 4 ESCC patients had moderate dysphagia with a near-complete obstruction. In 2 asymptomatic patients with no mucosal abnormalities on endoscopy or biopsies, sponge cytology detected ASC. Longitudinal follow-up of these patients is ongoing. On biopsies from twenty-one(23%) patients, leukoplakia was identified. Conclusion ESCC screening using the EC is feasible with good patient tolerance. Analysis of the cytology samples with H&E staining is potentially accurate for patients with non-obstructive lesions but has a high false negative rate in patients with advanced lesions, when the EC can’t traverse the obstruction. An unusually high rate of leukoplakia was detected in this population and will be evaluated as a potentially pre-malignant lesion with increased risk for development of ESCC. Future studies will include high-throughput sequencing to identify molecular changes that may correspond with leukoplakia or dysplastic cells retrieved with the EC. Disclosure All authors have declared no conflicts of interest.
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