251/7687. Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features. Neurofibromatosis type 1 (NF1) is one of the commonest autosomal dominant disorders in man. It is characterised by cafe au lait spots, peripheral neurofibromas, Lisch nodules, axillary freckling, skeletal dysplasia, and optic glioma. Symptomatic brain tumours occur in 1.5-2.2% of patients with NF1. We report here a family where seven members developed brain tumours. Of these, three have a clinical history strongly suggestive of NF1, while two do not fulfil diagnostic criteria for the disorder. A splice site mutation in exon 29 of the NF1 gene was found in these two subjects. This lesion is thought to be disease causative since it creates a frameshift and a premature termination of the neurofibromin protein. Different hypotheses to explain the unusual recurrence of brain tumours in this family, such as the nature of the mutation or cosegregation of other predisposing genes, are discussed. ( info) |
| Medullary thyroid carcinoma (MTC) is an uncommon thyroid cancer occurring in less than 10% of patients with thyroid cancer. Brain metastasis from MTC is exceedingly rare. Only six cases of brain metastasis from MTC have been reported in the literature and none had MTC as a part of multiple endocrine neoplasia (men) syndrome. We report a 42-year-old Caucasian male with men 2A who presented with neurological symptoms 25 years after total thyroidectomy with lymphadenectomy for MTC metastatic to local lymph nodes. A brain magnetic resonance imaging (MRI) showed a 4-cm cystic mass and a 1-cm nodule in the left frontal-parietal lobe in addition to a 0.8-cm cystic mass in the left frontal lobe and multiple tiny cerebellar metastatic lesions. Partial resection of the cerebral metastasis followed by whole brain radiotherapy resulted in resolution of the neurological symptoms. However, the patient had multiple systemic metastasis from the MTC and he died of systemic complications due to metastatic MTC. To our knowledge this is the first report of brain metastases from MTC in a patient with men 2A. ( info) |
253/7687. The stereotactic volumetric information: its role in two-step resection of brainstem and thalamic giant tumor. Report of three cases and technical note. BACKGROUND: A compact intracerebral tumoral lesion is usually considered to be completely resectable. Nevertheless, radical resection of a huge lesion located in a critical area may damage the surrounding compressed brain tissue. In cases with a good prognosis, a two-step removal appears to be a safer strategy. methods: In three cases, two with huge brain stem lesions and one with a thalamic lesion, a two-step volumetric stereotactic resection was planned. This strategy allowed us to evaluate the amount of tumor to be removed during the first procedure and to have, during the second operation, an exact definition of the reduced mass with regard to the scar tissue and postoperative adhesions. Furthermore, we avoided significant shifting of the cerebral structures during both procedures. RESULTS: There was a very good final recovery in the cases with brain stem lesions and a minimal deficit in the patient with the thalamic lesion. The patient with a mesencephalic lesion remained comatose for almost 2 days after the first procedure, confirming our fears about too radical a one-step resection. CONCLUSIONS: We think that by using current techniques, it is possible to remove a well circumscribed lesion regardless of its position. This is probably easier with giant lesions where a safe trajectory can be planned. In these cases, with lesions located in very critical areas but with a good prognosis, a two-step resection appears to be a good option. ( info) |
254/7687. Primary osteogenic sarcoma of the brain. Case report. The authors report a case of primary osteogenic sarcoma of the brain. Negative autopsy findings, complete bone radiographs, and bone-scanning techniques were consistent with a primary tumor focus in the right temporopietal region of the brain. The authors suggest an origin from a primitive multipotential mesenchymal cell. ( info) |
255/7687. Extraskeletal osteosarcoma of the mediastinum after treatment of a mediastinal germ-cell tumor. Three years after four cycles of bleomycin, etoposide, and cisplatin (BEP) chemotherapy for a nonseminomatous germ-cell tumor of the mediastinum followed by complete resection of residual teratoma in a 21-year-old man, a mediastinal recurrence was diagnosed as an extraskeletal osteosarcoma. After unsuccessful chemotherapy and removal of the tumor, the patient died of cerebral metastases. Histologic transformation of the teratomatous components of nonseminomatous germ-cell tumors is an uncommon phenomenon showing a particular aspect of germ-cell tumor biology. We review the literature and discuss the pathogenesis concerning this subject. ( info) |
256/7687. Brain metastasis from hepatocellular carcinoma after radical hepatectomy. Brain metastasis from hepatocellular carcinoma (HCC) is a rare, yet perplexing problem in patients with cancer. We report on 5 patients with metastasis of HCC to the brain after radical hepatectomy. Intrahepatic recurrence occurred in 3 patients, and distant metastasis to sites other than the brain was observed in 3 patients (lung, 2; bone, 1). The symptoms for brain metastasis included headache, hemiparesis, and vomiting. hemorrhage was found in 4 of 5 patients. All patients had a single nodular lesion in the brain. The alpha-fetoprotein levels were more than 10,000 ng/ml in 4 patients. Two patients underwent surgical resection, 1 received cranial irradiation, and 2 were administered corticosteroids. The interval between diagnosis of the primary cancer and detection of brain metastasis ranged from 2 to 54 months. The mean survival period was only 3 months after diagnosis of brain metastasis. All 5 patients died of neurologic causes. Because no effective treatment for brain metastasis from HCC is available, further study is needed. ( info) |
257/7687. Parotid carcinoma as a second malignancy after treatment of childhood acute lymphoblastic leukemia. The occurrence of second malignant neoplasms (SMN) in children who survive their primary malignancy is a major cause for concern. Two children with diagnoses of intermediate-risk acute lymphoblastic leukemia (ALL) at 22 months and 2 years of age were treated with multiagent chemotherapy and prophylactic cranial irradiation. They experienced painless parotid swelling 6 and 7 years after successful treatment of the ALL. The patients underwent total parotidectomy, and a diagnosis of mucoepidermoid carcinoma was made. Both patients experienced transient facial nerve paresis. The incidence of SMN in children successfully treated for primary malignancies is 3% to 12%. Salivary gland tumors are being increasingly described in this setting. Long-term follow-up for survivors of childhood ALL is recommended with prompt assessment and resection of parotid swellings, particularly in children who have received cranial irradiation. ( info) |
258/7687. Unusual late extrapulmonary metastasis in osteosarcoma. The major site of metastasis from osteosarcoma is the lung, and over 90% of fatalities in patients with this disease die from pulmonary metastases. Extrapulmonary disease is developing in an increasing proportion of patients, usually after pulmonary metastasis. This study reports three cases of patients with osteosarcoma that metastasized to the brain, mediastinum, intramuscular site, and pelvic cavity. The physician must be aware that extrapulmonary metastases may be present at the time a pulmonary metastasis becomes evident. ( info) |
259/7687. Interferon alpha-2b at low doses as long-term antiangiogenic treatment of a metastatic intracranial hemangioendothelioma: a case report. We describe a case of intracranial haemangioendothelioma in a 20-year old female patient who presented severe neurological symptoms and relapsed after two surgical interventions. The patient was treated with low doses of recombinant interferon alpha-2b (1 MUI three times a week) after surgical resection which led to recovery of daily function and work activity. To our knowledge, this is the ninth patient reported with intracranial hemangioendothelioma, but the only one having diffuse and painful bone metastases resolved by treatment with interferon. After 30 months the patient is free from symptoms and recurrence. The effectiveness shown by recombinant interferon alpha-2b against vascular neoplasms prompted us to look for the possible biological basis of such a property. ( info) |
260/7687. Intracranial fatigable ptosis. Two patients sought treatment for bilateral fatigable ptosis; one patient had a hematoma, and the other patient had an intracranial metastasis. Compression of the central caudal nucleus in the dorsal midbrain is proposed as the cause of this ptosis, and an alteration of central acetylcholine neurotransmission may contribute to ocular fatigability. Because symptoms that suggest fatigable ptosis can be similar to those that suggest ocular myasthenia gravis, a careful evaluation is necessary to avoid misinterpretation. ( info) |