ABSTRACT
BACKGROUND: The parapharyngeal space (PPR) is poorly accessible to clinical investigation due to its complex anatomy. Neoplasms in this area are rare, become lately symptomatic and are diagnosed in advanced stages. Multiple entities can be differentiated though malignant mesenchymal tumors are uncommon. PATIENTS: We describe characteristic course of spindle cell soft tissue tumors in PPR based on 5 patients: 2 cases of synovial sarkoma (SyS), 2 cases of malignant peripheral nerve sheath tumor (MPNST) without neurofibromatosis, 1 case of Ektomesenchymoma (EM). RESULTS: Both patients with SyS showed under multimodal therapy with surgery, chemotherapy and radiotherapy a rapid tumor progression and early pulmonary metastatic disease. The 2 patients with MPNST were free of recurrence after tumor resection and in one case after adjuvant radiotherapy. The patient with EM showed no recurrence after surgery. CONCLUSION: Since malignant mesenchymal tumors of the PPR are unusual and also not have the typical behavior of metastatic epithelial neoplasms or malignant lymphoma, the diagnosis may be delayed. It is important to think in atypical lesions in PPR of the possibility of a soft tissue tumor and to arrange the necessary diagnostic steps. The imaging of choice of the PPR is the MRI, a staging adapted to the entity is necessary. The histological differentiation by immunohistochemistry and molecular genetics is complex, but is a vital to determine the optimal therapy. Diagnosis and treatment should take place in a specialized center.
Subject(s)
Carcinoma/diagnosis , Carcinoma/therapy , Pharyngeal Neoplasms/diagnosis , Pharyngeal Neoplasms/therapy , Sarcoma/diagnosis , Sarcoma/therapy , Soft Tissue Neoplasms/diagnosis , Soft Tissue Neoplasms/therapy , Adolescent , Adult , Carcinoma/pathology , Cervical Vertebrae/pathology , Combined Modality Therapy , Diagnosis, Differential , Diagnostic Imaging , Endoscopy , Female , Humans , Male , Middle Aged , Neck Dissection , Neoplasm Recurrence, Local/diagnosis , Neoplasm Recurrence, Local/pathology , Neoplasm Recurrence, Local/therapy , Neoplasm Staging , Nerve Sheath Neoplasms/diagnosis , Nerve Sheath Neoplasms/pathology , Nerve Sheath Neoplasms/therapy , Pharyngeal Neoplasms/pathology , Pharynx/pathology , Prognosis , Sarcoma/pathology , Soft Tissue Neoplasms/pathologyABSTRACT
OBJECTIVE: Hearing impairment is the most common sensorineural disease in humans. About 1-3 per 1 000 neonates suffers at birth or in the first years from high-grade to severe hearing impairment. About half of the cases are due to genetic alterations. Most commonly, the GJB2 gene (connexin-26) is concerned with the mutation c.35delG. MATERIAL AND METHODES: All patients showed a severe to profound hearing impairment to the course. DNA isolation, amplification and sequencing was performed using standard techniques. RESULTS: In the studied patient population we have 142 pa-tients with a homozygous deletion mutation in GJB2 gene (c.35delG) and 29 patients who are heterozygous for this mutation on one allele and heterozygous for another loss-of-function mutation in GJB2 gene. Of these 171 patients were 16 (9.3%) on an inconspicuous newborn hearing screening using Otoacoustic Emissions (OAE). Total was observed a progression of hearing impairment in 31 of these patients (18.1%). CONCLUSIONS: This fact suggests that homozygous deletion mutation c.35delG does not always contribute to an congenital hearing impairment, but to a progressive hearing loss that might develop over the first months and years of life. Additionally, we have to re-evaluate the value of OAE for newborn hearing screening, keeping in mind that one positive result is no warranty for a normal development of hearing function, but a result that should be checked in the course. We recommend annual hearing tests to the paediatrician and with a known familial hearing loss and other risk factors pedaudiological controls.
