| head and neck paraganglioma is a rare tumour, especially in its familial form. We report a case of a multifocal head and neck paraganglioma in a young man with a family history of cervical tumours. At the age of 24, exploration of a left cervical swelling disclosed jugulotympanic and carotid body paragangliomas. Surgical removal of both tumours was performed. Two years later, a right carotid body as well as vagal paragangliomas were discovered. Follow-up at age 30 demonstrated relapse of the bilateral cervical paragangliomas, but also aortopulmonary and mesogastric paragangliomas. Cervical paragangliomas were also detected in the patient's sister and daughter, but not in his father. Furthermore, the proband's paternal grandmother and a maternal great-uncle had a history of 'neck scar'. This family history is suggestive of an autosomal dominant pattern of inheritance with maternal genomic imprinting. Genetic analysis of paraganglioma kindreds showed linkage with two different loci: 11q13.1 and 11q22.3-q23. Further knowledge of the genes involved could provide early diagnosis and accurate genetic counselling in affected families. Thorough familial investigation is consequently mandatory in all head and neck paragangliomas, especially in younger patients with multiple localizations, as surgical removal is safer at an early stage. ( info) |
12/534. pathology findings with acrylic implants. We report the pathological findings in cases of acrylic implants obtained by direct intratumoral injection of polymethyl-methacrylate (PMMA) and N-butyl-cyano-acrylate (NBCA). Direct intratumoral injection of acrylic implants was performed for a variety of primary and secondary bone lesions. These types of treatments have been used at our institution in the last 4 years for 40 vertebroplasty (PMMA) procedures and for nine bone lesions of other locations (PMMA, NBCA). Postmortem histology became available for 1 case of PMMA and for 5 cases with NBCA intratumoral acrylic implants. The pathological findings associated with PMMA and NBCA were evaluated and compared. PMMA exhibited a macroscopic and microscopic rim of tumor necrosis, 6 months after implantation. NBCA exhibited compressive effects on the nearby tumor tissue, however, without signs of significant necrosis outside the acrylic tumor cast. Tumor captured inside the acrylic cast showed extensive to near complete necrosis. Acrylic implants may lead to necrosis when injected directly in tumors. The necrotizing effect may extend beyond the limits of an implant in the case of PMMA. Such an extended effect of PMMA, when compared with NBCA, may be due to the variable toxicity of acrylic implants, including the different degrees of the exothermic reaction during polymerization. ( info) |
| We describe a patient with primary paraganglioma of the urinary bladder associated with typical clinical symptoms. Systolic blood pressure frequently increased to 300 mm Hg immediately after micturition. Levels of urinary vanillylmandelic acid excretion and serum norepinephrine were significantly elevated. The tumor was removed by partial cystectomy. Histological examination of the tumor revealed paraganglioma of the urinary bladder. Compared with a review of 53 similar cases reported in japan, the distribution of age, sex and tumor location in the bladder differed from those described worldwide. ( info) |
14/534. A new observation of the Carney's triad with long follow-Up period and additional tumors. The etiology of the Carney's triad (gastrointestinal stromal tumors, pulmonary chondromas, and paragangliomas) is unknown, and only 57 cases have been reported since its identification in 1977. We report the clinical course of a female with the complete triad and some additional tumors. Bilateral vagal paragangliomas were treated surgically and with radiotherapy between the ages of 24 and 26 years. Subsequently she underwent surgery for a gastric leiomyosarcoma (27 years), a pleomorphic adenoma of the parotid gland (49 years) and a multifocal breast cancer with axillary spread (50 years). A calcified lesion was also noticed in the left lung, the radiologic diagnosis of which was consistent with chondroma. A mediastinal paraganglioma, detected at 56 years on a control X-ray of the chest, was partially excised at 63 years. At the last control, performed at 66 years, the patient was alive with residual cervical and mediastinal paraganglioma. Her younger brother was affected by Hirschsprung's disease and died at 54 years of rectal cancer. Her daughter is 33 and has been suffering since birth with severe constipation. In conclusion, this is one of the longest followed-up patients with Carney's triad. Her case illustrates the need for early recognition of the setting in order to detect the component tumors at a stage when surgery may be curative, and careful and life-long follow-up, both because the multicentricity of the classic components tends to manifest metachronously and because of the tendency to develop other tumors, some of which may be malignant. Furthermore, the presence of Hirschsprung's disease in the patient's family, coupled with the alleged common origin of two component lesions from derivatives of the neural crest, open new avenues for the understanding of this disorder. ( info) |
15/534. Malignant paraganglioma metachronously recurring at short duration in different paraganglions: report of a case. We report the rare case of a 57-year-old man with retroperitoneal malignant paraganglioma. He was referred to our hospital complaining of left lower abdominal dull pain. Computer tomography (CT), magnetic resonance imaging, and aortography showed a mass measuring 5 x 4 cm in size on the left side of the abdominal aorta below the renal artery. The resected tumor was confirmed histologically to be malignant paraganglioma. Irradiation of the resected area was performed. Four months after the operation, an abdominal CT scan showed a 5.5 x 3.0 cm mass on the right side of the aorta below the diaphragm. This tumor was thereafter also resected. Three months after the second operation, a soft subcutaneous nodule measuring 4.5 x 2.0 cm in size was palpable above the left clavicle and was visible on a CT scan. A resection was again performed. All tumors showed the same histological findings. This is the first case reported in the Japanese literature with such a short-term demonstration of multiple metachronous recurrences in different paraganglions. ( info) |
16/534. Familial paragangliomas: the emerging impact of molecular genetics on evaluation and management. HYPOTHESIS: Advancements in molecular genetics has direct impact on the evaluation and management of patients and family members with familial paragangliomas (FP). BACKGROUND: Familial paragangliomas. in contrast to sporadic cases, are commonly multiple, bilateral, and present at an earlier age. Familial tumors are inherited in an autosomal dominant pattern with genomic imprinting of the paternal allele. Mapping studies have identified regions on chromosome 11q as harboring the genetic defect responsible for paraganglioma formation. methods: A multigenerational family with five affected females with head and neck paragangliomas underwent clinical and genetic evaluation. Genetic mapping was performed with microsatellite markers froin chromosome 11q13 and q23. Nonaffected individuals were screened for carrying the affected haplotype. In addition, by using dna obtained from an amniotic fluid sample. in utero screening of a fetus was performed. RESULTS: The most common complaints were hearing loss and neck masses that usually manifested by age 25. Genetic mapping identified loci 11q13 and q23 as sites likely responsible for tumorogenesis. Three unaffected family members, including a fetus, were identified as carriers of the affected haplotype. The genetic findings were used to design a screening protocol for family members at risk for developing glomus tumors. CONCLUSIONS: Genetic screening of unaffected family members can identify individuals harboring the mutated allele. Identification of family members at risk for developing FP by molecular genetic techniques may lead to early detection of head and neck paragangliomas and may directly impact morbidity from glomus tumors and their treatment. ( info) |
17/534. Malignant paraganglioma of frontoethmoidal region. Nonchromaffin paragangliomas are unusual tumours arising from widely distributed paraganglionic tissues probably of neural crest origin. In the head and neck region they are usually seen as carotid body or jugulotympanic tumours. Other rarely reported sites in the head and neck region are the orbit, nose and larynx. This report deals with a case of sinonasal paraganglioma which was initially treated with surgery and radiotherapy. Twenty two years later the tumour recurred and showed a rapid growth due to malignant transformation which we believe is late effect of radiotherapy. The clinical features, histopathology and role of radiotherapy in sinonasal paragangliomas together with a review of the medical literature have been discussed. ( info) |
18/534. Paragangliomas of the spinal canal. We report the clinical MRI and histopathological features of five consecutive cases of spinal paraganglioma. Three intradural tumours were found in the typical location (two at the L4, one at the S2 level); one intradural extramedullary tumour arose at an unusual level, from the ventral C2 root, and one extradural tumour growing along the L5 nerve root sheath had an aggressive growth pattern with early, local paraspinal recurrence and, eventually, intradural metastatic spread. This type of growth pattern has not been described previously. Paragangliomas of the spinal canal are more common than previously thought and can be located anywhere along the spine, although the lumbosacral level is the most common. Their appearance on MRI can not distinguish them from other tumours in the spinal canal. Even though paragangliomas in general are benign and slowly growing their growth pattern can vary and be more aggressive, to the point of metastatic spread. ( info) |
19/534. Reversible sensorineural hearing impairment induced by a carotid body tumor. A case of a 62-year-old Austrian man having a 25-year history of a right-sided carotid body tumor (CBT) is presented. Three months before being transferred to the University of Vienna for tumor resection the patient developed symptoms of tinnitus, progressive ipsilateral hearing loss and dysphagia. Pure-tone audiometry demonstrated a 50 dB right sensorineural hearing loss. A 6 x 6 x 4 cm firm, pulsatile mass was found in the right carotid triangle and extending towards the base of the skull. One week after radical tumor resection all preoperative symptoms disappeared and hearing of the right ear recovered. review of the available literature showed that hearing loss and tinnitus are unusual symptoms of a CBT. Our findings suggest that routine audiometric evaluations in such cases of CBT patients should be obtained in order to determine the real incidence of audiological disorders. ( info) |
20/534. An extremely large solitary primary paraganglioma of the lung: report of a case. We present herein the case of a 38-year-old woman found to have an extremely large solitary primary paraganglioma of the lung. The patient presented with chest pain on exertion and a mass was discovered in the left lower lobe of the lung by chest x-rays and computed tomography (CT). As no other neoplasms were detected elsewhere, a left lower lobectomy was performed. The patient has remained well without any evidence of recurrence for 5 years since her operation. The tumor, measuring 13 x 12 x 7 cm, was composed of ovoid cells (Zellballen), which were positive for Fontana-Masson and Grimelius stains, and sustentacular cells. Immunohistochemically, the ovoid cells were positive for neuron-specific enolase, S-100, CAM5.2, Leu7, and chromogranin a, and negative for carcinoembryonic antigen and epithelial membrane antigen. The sustentacular cells were positive for S-100 protein and CAM5.2, and negative for glial fibrillary acid protein. Therefore, the tumor was diagnosed as a paraganglioma. The tumor from our patient is the largest of the 17 solitary primary pulmonary paragangliomas reported thus far in the English-language literature. ( info) |