NTRK Fusion Genes in Thyroid Carcinomas: Clinicopathological Characteristics and Their Impacts on Prognosis.

Chromosomal rearrangements of NTRK genes are oncogenic driver mutations in thyroid cancer (TC). This study aimed to identify NTRK fusion-positive thyroid tumors and to correlate them with clinical and pathological data and determine their prognostic significance. The cohort consisted of 989 different TC samples. Based on the detected mutation, samples were triaged, and those that were positive for a BRAF, HRAS, KRAS, NRAS, RET, RET/PTC or PAX8/PPARγ mutation were excluded from further analyses. NTRK fusion gene testing was performed in 259 cases, including 126 cases using next-generation sequencing. NTRK fusion genes were detected in 57 of 846 (6.7%) papillary thyroid carcinomas and in 2 of 10 (20.0%) poorly differentiated thyroid carcinomas. A total of eight types of NTRK fusions were found, including ETV6/NTRK3, EML4/NTRK3, RBPMS/NTRK3, SQSTM1/NTRK3, TPM3/NTRK1, IRF2BP2/NTRK1, SQSTM1/NTRK1 and TPR/NTRK1.NTRK fusion-positive carcinomas were associated with the follicular growth pattern, chronic lymphocytic thyroiditis and lymph node metastases. NTRK1-rearranged carcinomas showed a higher frequency of multifocality and aggressivity than NTRK3-rearranged carcinomas. Tumor size, presence of metastases, positivity for the NTRK3 or NTRK1 fusion gene and a late mutation event (TERT or TP53 mutation) were determined as factors affecting patient prognosis. NTRK fusion genes are valuable diagnostic and prognostic markers.

Nonfunctioning parathyroid carcinoma associated with parathyromatosis. A case report.

We report on the case of a 39-year old man who underwent a thyroidectomy and a parathyroidectomy with misdiagnosed medullary carcinoma of the thyroid in 2013. During the operation the thyroid gland and parathyroid glands were artificially damaged due to the complicated surgical access to the glands because of the obesity of the patient as well as the deep placement of the enlarged parathyroid glands. Three years later, the neck ultrasound showed bilateral nodules on the neck, suspected to be metastases of the medullary carcinoma. Microscopically, the nodules were found to be focuses of parathyromatosis, and there was also an infiltrating carcinoma. This lesion was reclassified after clinico-pathological correlation and immunohistochemical examination as nonfunctioning parathyroid carcinoma. This article discusses morphological and immunohistochemical features of parathyromatosis and parathyroid carcinoma and its separation from lesions with which it may be misdiagnosed.

Transoral and combined transoral-transcervical approach in the surgery of parapharyngeal tumors.

The goal of parapharyngeal space (PPS) tumor surgery is to obtain adequate visualization to ensure complete removal with preservation of the surrounding nerves and vessels. Different surgical approaches have been described. Transoral approach is the most controversial one due to cited limited exposure, risk of tumor spillage, and possibility of neurovascular injury. We performed retrospective analysis of 26 consecutive patients who had undergone transoral or combined transoral-transcervical resection of PPS tumors from January 1997 to December 2007. Both approaches were safely employed to remove selected PPS tumors. Majority of treated tumors were pleomorphic adenomas (14 minor salivary gland and 7 deep lobe parotid gland tumors). Two cases of malignant salivary gland tumors, 4 nerve sheath tumors and 1 lymphangioma were also excised. Mean tumor size was 6.1 cm (range 2-11 cm). Visualization was felt to be adequate and dissection safe. Radical resection was achieved in 24 cases. Near-total resection was achieved in two cases where otherwise other approach would be suitable but cannot be undertaken because of patient refusal and comorbidities. Patients with malignant tumors had postoperative radiotherapy. Radically treated cases are disease free. One of the near-totally resected tumors needed revision surgery. Neither major complications nor disordered healing were observed. Transoral approach provides access to selected cases of PPS tumors based on preoperative imaging methods and fine-needle aspiration cytology. Risk of non-radical resection is acceptable. It can be combined with external approach to achieve safe resection of some benign tumors which would need transmandibular approach.

Orbital and intracranial complications after acute rhinosinusitis.

BACKGROUND/OBJECTIVES: Nowadays, intracranial abscess is a rare complication of acute rhinosinusitis. The consequent orbital and intracranial complications of acute rhinosinusitis are rare but must be mutually excluded in complicated rhinosinusitis even when proper surgical and medical treatment tend to efficiently heal the orbital complication. METHODS: We report a case of a patient who primarily revealed symptoms of orbitocellulitis as a complication of odontogenous rhinosinusitis. Proper diagnostic and therapeutical measures were undertaken to manage the disease immediately after stationary admission. RESULTS: Two weeks after an inconspicuous healing period, hemiparesis due to formation of an intracranial abscess developed. An emergent situation reveals which was unusual to the clinical situation. CONCLUSION: The possible role of underlying mechanisms of intracranial abscess formation is discussed and review of literature concerning orbital and intracranial rhinosinusitis complications is performed. The correct indication of imaging methods and accurate evaluation of diminutive symptoms are essential. We assume that performance of a complementary CT of the brain or MRI even when previous CT scan of the orbit/paranasal sinuses reveals no cerebral pathology should be done to avoid or minimize future patients with consecutive orbital and intracranial complications of acute rhinosinusitis.

Septal graft in laryngeal reconstruction.

A 62-year-old woman presented with symptoms of dyspnea. Ultrasonography and computed tomography examinations revealed mass extending from the cricoid cartilage to the left lobe of thyroid gland and thyroid cartilage. Cytology revealed possibility of cartilaginous origin, which was proven to be chondrosarcoma Grade 1 from the biopsy specimen obtained during panendoscopy. She underwent one stage radical resection and immediate reconstruction of laryngeal skeleton defect by mucocartilaginous graft from the nasal septum. Her postoperative course was optimal with preservation of all the laryngeal functions. Twenty-eight months postoperatively, she had to undergo total laryngectomy as a salvage procedure for the advanced local recurrence. We report on the relatively easy technique for functional reconstruction of the large laryngeal defect with the employment of cartilage graft from the nasal septum.

Thyroid abscess at an adolescent age.

We report a case of thyroid abscess in a 17-year-old girl. She was presented with swelling and pain in the region of the left thyroid lobe. The diagnosis was confirmed by ultrasonography and fine needle aspiration. After incision, evacuation of the pus and antibiotic treatment manifestations of disease disappeared. Barium swallow did not prove any hypopharyngeal fistula. The girl is now without any problems for 3 years. The patient had infectious mononucleosis 2 months prior development of the thyroid abscess. We contemplate that it may had changed the immunological state that facilitated this rare inflammation.