ABSTRACT
Pseudocyst of the auricle is a rare, idiopathic disease clinically manifesting as a painless edema of the upper-lateral parts of the auricle. Due to the rarity of the disease, auricular pseudocyst is often misdiagnosed. The confirmation of a diagnosis of auricular pseudocyst is most commonly made on the basis of clinical manifestations. The etiology of the disease remains unknown, and this frequently hinders both proper diagnosis and prevention. We report a case of a 4-week neonate admitted to the Department of Pediatrics, Rheumatology and Environmental Diseases of the Chair of Pediatry, Jagiellonian University, Medical College in Krakow with bilateral pseudocyst with very early presentation that was less prominent after birth and well presented in the second week of life. The surgical treatment was successful. One month after treatment the infant was admitted again to the hospital with hypertension and edema of feet and hands. Treatment with amlodipine was implemented resulting in a normalization of blood pressure. The diagnosis of pseudohypoaldosteronism type I was confirmed.
Subject(s)
Ear Diseases/surgery , Edema/etiology , Pseudohypoaldosteronism/diagnosis , Blood Pressure , Cysts/diagnosis , Cysts/surgery , Ear Auricle , Ear Diseases/complications , Ear Diseases/diagnosis , Foot , Hand , Humans , Infant, Newborn , Male , Pseudohypoaldosteronism/complicationsABSTRACT
BACKGROUND: Aberrantly expressed mucin glycoproteins (MUC) play important roles in pancreatic ductal adenocarcinoma (PDAC), yet their use as a diagnostic aid in fine-needle aspiration biopsy (FNAB) is poorly documented. The aim of this study was to investigate the rationale and feasibility of mucin (MUC1, MUC2, MUC3, MUC4, MUC5AC, and MUC6) expression profiling by RT-PCR for diagnostic applications in cytology. METHODS: Mucin expression was examined by RT-PCR and immunohistochemistry in specimens resected from patients with pancreatic (nâ¯=â¯101), ampullary (nâ¯=â¯23), and common bile duct (nâ¯=â¯10) cancers and 33 with chronic pancreatitis. Furthermore, mucin profiling by RT-PCR was prospectively compared in surgical and biopsy specimens of 40 patients with pancreatic solid tumours qualified for FNAB prior to surgery. RESULTS: A logistic regression model to distinguish PDAC from chronic pancreatitis using RT-PCR profiling included MUC3, MUC5AC, and MUC6. The same set of mucins differentiated ampullary and bile duct cancers from chronic pancreatitis. AUCs for the ROC curves derived from the two models were 0.95 (95%CI 0.87-0.99) and 0.92 (95%CI 0.81-0.98), respectively. The corresponding positive likelihood ratios were 6.02 and 5.97, while the negative likelihood ratios were 0.10 and 0.12. AUCs of ROC curves obtained by RT-PCR and immunohistochemistry demonstrated that both analytical methods were comparable. Surgical and cytological samples showed significantly correlated values of ΔCt for individual mucins with the overall Pearson's correlation coefficient râ¯=â¯0.841 (Pâ¯=â¯0.001). CONCLUSIONS: Mucin expression profiling of pancreatic cancer with RT-PCR is feasible and may be a valuable help in discriminating malignant lesions from chronic pancreatitis in FNAB cytology.
Subject(s)
Biomarkers, Tumor/analysis , Gene Expression Profiling , Mucins/biosynthesis , Mucins/genetics , Pancreatic Neoplasms/diagnosis , Pancreatic Neoplasms/genetics , Aged , Bile Duct Neoplasms/diagnosis , Bile Duct Neoplasms/pathology , Biopsy, Fine-Needle , Diagnosis, Differential , Feasibility Studies , Female , Humans , Immunohistochemistry , Likelihood Functions , Male , Middle Aged , Pancreatic Neoplasms/pathology , Pancreatitis, Chronic/genetics , Pancreatitis, Chronic/pathology , RNA, Messenger/biosynthesis , RNA, Messenger/genetics , ROC Curve , Real-Time Polymerase Chain ReactionABSTRACT
AIMS: Mucin (MUC) glycoproteins are involved in various steps of the carcinogenesis and progression of human malignancies. The aim of this study was to verify whether semiquantitative evaluation of MUC staining by immunohistochemistry may help to differentiate pancreatic ductal cell adenocarcinoma (PDAC) from chronic pancreatitis and normal pancreas. METHODS AND RESULTS: Mucin expression was examined by immunohistochemistry in surgical specimens resected from 101 patients with PDAC and 33 with chronic pancreatitis, and in 40 normal pancreatic tissue specimens. A quickscore (QS, range 0-300) was calculated by multiplying staining intensity by the percentage of positive cells. A diagnostic model was developed for MUC QS (MUC1, MUC2, MUC3, MUC4, MUC5AC, and MUC6), based on a receiver operating characteristic (ROC) curve and logistic regression analysis. Median QS values for MUC1 and MUC5AC were significantly higher for PDAC, whereas patients with non-malignant tissues had higher values for MUC3 and MUC6. The area under the curve for the ROC curve derived from the diagnostic model including MUC3, MUC5AC and MUC6 was 0.96 [95% confidence interval (CI) 0.91-0.98], with 85% sensitivity and 94% specificity. Median QS values for MUC2 were significantly higher in patients with less advanced tumours, whereas venous invasion was associated with a lower QS for MUC6. Moreover, multivariate survival analysis revealed that low MUC6 expression was a negative prognostic factor, with a hazard ratio of 1.73 (95% CI 1.07-2.81). CONCLUSIONS: The three-MUC diagnostic model (MUC3, MUC5AC, and MUC6) showed an excellent ability to discriminate pancreatic cancer from non-malignant tissues, and yielded information that may prove useful for the development of clinical applications.
