Primary undifferentiated carcinoma of the trachea.

BACKGROUND: Primary undifferentiated or lymphoepithelial carcinoma mainly occurs in the nasopharynx. Tracheal localization is exceedingly rare. To the best of our knowledge, only four cases have been reported previously, all in Asian patients. CASE REPORT: A 61-year-old male European patient presented with hemoptysis and cough for several months. The workup revealed a primary tracheal tumor without regional or distant metastasis. The patient was treated with tracheal resection followed by end-to-end reconstruction. Pathologic analysis of the tumor, including immunohistochemistry, confirmed the diagnosis of lymphoepithelioma-like carcinoma. Testing for Epstein-Barr virus by hybridization in situ was massively positive. With a follow-up at 15 months, the patient is alive and free of disease. CONCLUSION: We report the first case of lymphoepithelioma-like carcinoma in the trachea in the European population. Treatment possibilities are discussed. They should be based on each patient's clinical presentation and the results of their preoperative workup.

Pitfalls in preoperative work-up of parotid gland tumours: 10-year series.

PROBLEMS/OBJECTIVES: Preoperative fine-needle aspiration cytology (FNAC) and magnetic resonance imaging (MRI) are the two most widely accepted diagnostic techniques used for the assessment of parotid gland tumours. We retrospectively evaluated the ability of FNAC and MRI to predict malignancy in parotid gland tumours. METHODOLOGY: Over a period of 10 years (2002-2011), parotidectomy for primary parotid gland tumours was performed in a consecutive series of 178 patients. Preoperative MRI was performed in 75% (133/178) of cases, and preoperative FNAC was performed in 70% of cases (124/178). Both modalities were applied in 53% (94/178) of patients. Sensitivity, specificity, and accuracy were analyzed retrospectively for each subgroup of patients. RESULTS: The sensitivity, specificity, and accuracy for predicting malignancy were 45%, 89%, and 84%, respectively, for FNAC (including only diagnostic cytology), and 40%, 88%, and 81%, respectively, for MRI. In the subgroup of patients who underwent both MRI and FNAC, sensitivity, specificity, and accuracy were 50%, 85%, and 80%, respectively. Preoperative MRI values improved significantly after introduction of diffusion-weighted (DW) acquisition in 2007 (71%, 93%, and 91%, respectively). CONCLUSIONS: Compared to previously published results, the high number of nondiagnostic smears and the low sensitivity rates in our series were disappointing, In part, this can be explained by the low percentage of malignant tumours and the high number of low-grade tumours among these. We discuss possibilities for improving preoperative performance, such as ultrasound-guided FNAC.

Delayed endovascular coil extrusion after embolisation for post-tonsillectomy haemorrhage: case report and literature review.

OBJECTIVE: To report a rare case of delayed endovascular coil extrusion following embolisation of a lingual artery pseudoaneurysm. CASE REPORT: A 23-year-old woman presented with dysphagia and odynophagia 11 months after having experienced massive post-tonsillectomy haemorrhage. At that time, the bleeding had been stopped by embolisation of a lingual artery pseudoaneurysm and the external carotid artery. Clinical examination at admission showed extrusion of the embolisation coils in the lateral lower pharyngeal wall. The coils were removed under general anaesthesia in the presence of an interventional radiologist. The procedure and post-operative period were without complication and no bleeding was observed. The dysphagia and pain disappeared and the subsequent seven-month follow-up period was uneventful. CONCLUSION: Although selective embolisation is a safe and effective treatment for severe post-tonsillectomy haemorrhage, the possibility of delayed coil extrusion should be kept in mind.

Premature ovarian failure (POF) syndrome: towards the molecular clinical analysis of its genetic complexity.

The Premature Ovarian Failure (POF) syndrome is a very heterogeneous clinical disorder due probably to the complex genetic networks controlling human folliculogenesis. Clinical subgroups of POF patients whose aetiology of ovarian failure is based on the same genetic factors are therefore difficult to establish. Some experimental evidence suggests that these genes might be clustered on the female sex chromosome in the POF1 and POF2 loci. This review is aimed to present an overview of the actual structural changes of the X chromosome causing POF, and to present a number of X and autosomal female fertility genes which are probably key genes in human folliculogenesis and are therefore prominent POF candidate genes. Towards the molecular analysis of their functional contribution to the genetic aetiology of POF in the clinic, an interdisciplinary scheme for their diagnostic analysis is presented in a pilot study focussed on chromosome analyses and the expression analysis of some major POF candidate genes (DAZL, DBX, FOXL2, INHalpha, GDF9, USP9X) in the leukocytes of 101 POF patients. It starts with a comprehensive and significantly improved clinical diagnostic program for this large and heterogeneous patient group.