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Query: UMLS:C0027651 (tumor)
 685,946 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe the case of a 32 year-old woman with a congenital neurofibromatosis referred for excision of a painful subcutaneous nodule of the left popliteal space. The histological study showed a tumor displaying a biphasic pattern made of fascicles of benign spindle cells admixed with mucinous epithelium. Immunohistochemistry (cytokeratin X, ECA X) and electron microscopy helped to prove the true epithelial nature of the glandular components. Glandular schwannoma has rarely been described, especially in a benign histological pattern; this one has never been reported in association with Von Recklinghausen's disease. The histogenesis of the glandular schwannoma remains uncertain.
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PMID:[Benign glandular schwannoma and Recklinghausen disease. Report of a case]. 159 70

A 57-year-old man was admitted to our hospital for further investigation of an abnormal shadow in his chest X-ray. He had cafe-au-lait spots and multiple subcutaneous neurofibromas and was diagnosed as having von Recklinghausen's disease. Bronchofiberscopy was performed, but an adequate specimen was not obtained. Therefore, percutaneous needle biopsy was performed, and the specimen showed poorly-differentiated adenocarcinoma. The left subclavian artery was deviated on aortography, therefore, neoadjuvant chemotherapy with CDDP & VDS was performed. He subsequently underwent left upper lobectomy. Pathologically, the tumor cell showed necrosis and scarring. Including this case, there have been 11 reports of von Recklinghausen's disease associated with lung cancer in the Japanese literature. Adenocarcinoma was observed in 72.9% of cases, and poorly-differentiated tumor was observed in 7 out of 8 patients with distinct tumor differentiation.
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PMID:[A case of lung cancer in a patient with von Recklinghausen's disease]. 160 62

Neurogenic tumours arising in the trachea are rare; the association with Von Recklinghausen's disease is exceptional. Only two cases of tracheal neurofibroma with neurofibromatosis have been reported. We report on another patient, a thirty year old man, who presented with acute shortness of breath; laser resection was performed via an endotracheal approach, then, a few days later, resection of the exotracheal tumor and tracheal segment was performed. Postoperatively, the patient did well for nine years without any respiratory complaint or neurofibromatosis relapse.
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PMID:[Tracheal neurofibroma and Recklinghausen's disease]. 160 44

To characterize further the evolution of white matter lesions in neurofibromatosis type 1, we reviewed 68 MR images in 43 patients (age, 1-31 years), including 25 follow-up studies (mean interval, 27 months). Lesion number, location, morphology, signal characteristics, and contrast enhancement were assessed. Lesion characteristics and changes thereof were correlated with the patients' ages. Thirty-four patients (79%) had white matter lesions. These lesions were hyperintense on T2-weighted images, were isointense on T1-weighted images, and showed no mass effect or contrast enhancement in 31 patients; in three patients, T1-prolongation was observed (one with significant mass effect). None of the lesions evolved into a glioma. The most common locations were the cerebellum (49%), brainstem (22%), and internal capsule (19%). Nineteen patients had white matter lesions and follow-up studies. Lesions decreased in size or number in seven patients (average age, 13 years), showed no change in three (average age, 12 years), increased in size or number in four (average age, 5 years), and showed a mixed pattern (increased/decreased size/number) in four (average age, 7 years). White matter lesions in neurofibromatosis type 1 frequently increase in size or number early in childhood; this did not indicate neoplasia in our study. The lesions tend to resolve with increasing age. Lesion progression in a child more than 10 years old warrants close follow-up to rule out a neoplasm.
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PMID:Evolution of white matter lesions in neurofibromatosis type 1: MR findings. 160 92

A 42-year-old patient of von Recklinghausen's disease suffered from odynophagia, trismus and prominent gag reflex for seven months. Physical examination revealed a firm, nonpulsatile submucosal mass in the right oropharynx. CT scan showed a huge, well-defined mass in the right parapharyngeal space and intracranial involvement was excluded. Pathological examination of the tumor after surgical excision demonstrated a neurofibroma about 7.5 x 4 x 3 cm in size, which was consistent with skin neurofibroma. After surgery the patient was free from the initial complaints and has remained well to the present. von Recklinghausen's disease, also known as neurofibromatosis type I, is characterized by numerous skin neurofibromas, cafe-au-lait spots, etc. It has quite diverse complications occurring in the head and neck region. Parapharyngeal space neurofibroma is one of the rare complications of neurofibromatosis type I, occurring in less than 5% of all parapharyngeal space neoplasia.
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PMID:von Recklinghausen's disease with involvement of right parapharyngeal space: report of a case. 168 68

This report describes the concomitant occurrence of a somatostatin-rich duodenal carcinoid, a medullary thyroid carcinoma and a diffuse adrenal medullary hyperplasia in a patient with von Recklinghausen's disease. A 50-year-old Japanese man died from lung metastasis of a malignant schwannoma. In addition to extensive viscero-cutaneous neurofibromatosis, two different types of neuroendocrine tumors were found in the duodenum and thyroid gland at autopsy. The duodenal tumor, which was located in the second portion, showed the histologic appearance of a carcinoid tumor with glandular differentiation and psammoma-bodies. Immunohistochemically the tumor cells were intensely positive for somatostatin. The thyroid tumor was composed of nests of tumor cells arranged in an endocrine pattern, and showed immunoreactivity for calcitonin. A review of the literature revealed no previously reported case of concomitant occurrence of duodenal somatostatinoma and medullary thyroid carcinoma in a single patient with von Recklinghausen's disease. Morphometric analysis of adrenal glands disclosed the presence of diffuse medullary hyperplasia. Thus, the present case exhibited a similarity in some respects with multiple endocrine neoplasia (MEN) syndrome, Type IIa or IIb.
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PMID:von Recklinghausen's disease associated with somatostatin-rich duodenal carcinoid (somatostatinoma), medullary thyroid carcinoma and diffuse adrenal medullary hyperplasia. 168 37

Neurofibromas, schwannomas, and neurotized melanocytic nevi may closely resemble one another at the light microscopic level. We studied 10 neurofibromas, 10 schwannomas, and 10 partially neurotized melanocytic nevi immunohistochemically using an antibody directed against factor XIIIa to determine if this antibody might provide a useful method of differentiating these lesions. The cases were also stained with S100 protein. All of the neurofibromas stained intensely for factor XIIIa. The proportion of cells staining within the tumors varied from 30% to 70%. In contrast, none of the schwannomas and neurotized nevi studied demonstrated staining of tumor cells with this antibody. S100 protein was expressed by 100% of neurofibromas, schwannomas, and melanocytic nevi. Our findings suggest that factor XIIIa may provide a reliable and practical means of differentiating cutaneous neurofibromas from neurotized nevi and cutaneous schwannomas. Distinguishing between these different tumor types may be important in some clinical situations, particularly with respect to rendering a diagnosis of von Recklinghausen's neurofibromatosis. The differences in the immunohistochemical profiles of neurofibromas and neurotized nevi support the concept that these tumors are histogenetically distinct, despite their similar histologic appearances.
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PMID:Immunohistochemical demonstration of factor XIIIa expression in neurofibromas. A practical means of differentiating these tumors from neurotized melanocytic nevi and schwannomas. 197 68

We present a case of multiple benign spindle cell tumors of the jejunum in a patient with von Recklinghausen's neurofibromatosis and describe the light-microscopic, immunohistochemical, and ultrastructural features of these lesions. Two small spindle cell nodules were located in the region of Auerbach's myenteric plexus and a third larger tumor produced a subserosal mass. The immunohistochemical profile of these tumors revealed that they were actin and S100-protein negative but positive for neuron-specific enolase. At the ultrastructural level, the tumors recapitulated features of Auerbach's plexus. These lesions are similar to previously described gastrointestinal autonomic nerve tumors, and we propose that this may be the site of origin of enteric stromal tumors in von Recklinghausen's neurofibromatosis.
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PMID:Auerbach's myenteric plexus. A possible site of origin for gastrointestinal stromal tumors in von Recklinghausen's neurofibromatosis. 169 3

Nine examples of a cellular peripheral neural tumor (CPNT) were identified in a review of 139 peripheral nerve sheath neoplasms in children, which included 60 neurofibromas and 16 malignant peripheral nerve sheath tumors. The mean age at diagnosis of these nine patients was 7 years, with six presenting in the first decade of life and four were noted at birth. The male:female ratio was 0.5. Topographically, the tumors were located in the extremities, 4; head and neck, 3; and trunk, 2. One or another stigmata of von Recklinghausen's neurofibromatosis (VRN) was present in four patients. After initial resection, seven children remained well, but two developed a recurrence; the histology was identical to the original tumor in one case but overt malignant transformation had occurred in the second. This case was the only tumor-related death in this series. The CPNT was a circumscribed but nonencapsulated mass measuring 1.8-7.5 cm in greatest dimension in the subcutaneous and deep soft tissues and had a compact spindle cell pattern, occasional mitoses, and minor foci of typical neurofibroma. Immunohistochemical staining revealed vimentin expression in all seven cases, Leu-7 in six, myelin basic protein and S-100 protein in five, desmin in one, and actin in none. In contrast to neurofibroma and malignant peripheral nerve sheath tumors, CPNT tended to occur earlier, either congenitally or in the first decade, and slightly more commonly in females. The anatomical distribution and pattern of immunoreactivity were similar to neurofibroma. However, the cellularity and mitotic activity of these neoplasms were sufficiently disquieting as to raise concerns about the prognosis, and in one case, the tumor behaved in an unequivocally malignant fashion. When a peripheral neural tumor with the pathologic features described in this study is encountered, wide excision and careful clinical follow-up are recommended.
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PMID:Cellular peripheral neural tumors (neurofibromas) in children and adolescents: a clinicopathological and immunohistochemical study. 169 25

The authors reported two cases of von Recklinghausen's disease with multiple brain tumors and multiple spinal tumors. The first case, a 21-year-old man who had a past history of optic gliomas was admitted because of gait disturbance. Computed tomography (CT) and magnetic resonance imaging (MRI) showed calcification of the basal ganglia, bilateral C-P angle tumors, cystic cerebellar tumor and arachnoid cyst in the quadrigeminal cistern. Myelography and MRI revealed multiple spinal tumors. Surgical management was performed and cerebellar tumor was histologically confirmed to be a pilocytic astrocytoma. Spinal tumors were also astrocytomas. The second patient, a 56-year-old woman suffered from right iliac pain, right hemiparesis and motor aphasia. CT revealed two round tumors in the left cerebral hemisphere and bilateral C-P angle tumors. Myelography and MRI demonstrated multiple intradural-extramedullary spinal tumors. Histologically, supratentorial tumors were transitional meningiomas and spinal tumors were neurinomas. It is well known that von Recklinghausen's disease is often associated with brain or spinal tumors. But, in the literature, only 22 cases of von Recklinghausen's disease combined with multiple brain tumors with different histological types and multiple spinal tumors have been reviewed. With our two cases, the average age of these 24 cases was 28.6 years old, nine cases were male and 15 cases were female. All patients had C-P angle tumors and 23 cases were combined with intracranial meningiomas. In this paper, the clinical features and diagnostic aspects were discussed.
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PMID:[Two cases of von Recklinghausen's disease with multiple brain and spinal tumors]. 173 26


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