Cases reported "Soft Tissue Neoplasms"

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1/66. Pacinian neurofibroma of the hand: a case report and literature review.

    Pacinian neurofibroma is a rare, benign tumor not associated with von Recklinghausen's disease (neurofibromatosis). Histologically, it is composed of a proliferation of structures resembling normal pressure receptors. A case of pacinian neurofibroma of the hand in a 4-year-old child is presented, along with a review of the literature.
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keywords = neurofibroma
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2/66. Ossifying fibromyxoid tumor of soft parts: clinicopathologic, immunohistochemical and ultrastructural study of four cases.

    Four cases of uncommon soft tissue tumors were investigated histopathologically. All of them consisted of fibrous and myxoid components, and mature bone showed shell-like characteristics. Histological features revealed these tumors were well circumscribed by a thick collagenous fibrous capsule and composed of uniform-sized fusiform cells with eosinophilic cytoplasm and a round or oval nucleus in the myxoid matrix. An incomplete shell of mature bone with lamellar structure was also observed at the periphery. Immunohistochemical and ultrastructural studies were performed. The major component of the proliferating cells in the tumors had positive staining for vimentin, S-100 protein, neuron-specific enolase and synaptophysin. The myxoid matrix was stained by alcian blue and was digested completely by pretreatment with hyaluronidase. Electron microscopy showed the cytoplasm contained dense-core granules measuring 100-200 nm and abundant filaments of an intermediate size. It is suggested that these uncommon tumors might be diagnosed as the 'ossifying fibromyxoid tumor of soft parts' previously described by Enzinger et al., which were derived from peripheral nerve sheath tumors such as neurofibroma and myxoid neurofibroma.
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ranking = 0.28571428571429
keywords = neurofibroma
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3/66. A case of familial angiolipomatosis with Lisch nodules.

    Familial angiolipomatosis is a rare syndrome that may be confused clinically with neurofibromatosis type 1. This condition is most often inherited in an autosomal recessive manner; however, several reports have been published suggesting an autosomal dominant mode of inheritance. Angiolipomatosis, although somewhat disfiguring, is a benign condition with no known association with malignant neoplasms. This is in contradistinction to neurofibromatosis, an autosomal dominant syndrome associated with a myriad of benign and malignant neoplasms. It is, therefore, important to discriminate this entity from neurofibromatosis when a patient presents with multiple subcutaneous tumors and a family history of similar lesions. Described is a case of a prison inmate with a history of seizures and "neurofibromatosis" without clinical documentation. Lisch nodules were noted on the irides. Postmortem examination showed multiple subcutaneous yellow tumors on the chest and arms. Fine-needle aspiration of 1 mass yielded adipose tissue with prominent vessels; histologic sections of another mass showed angiolipoma. The remainder of the autopsy showed significant coronary artery disease and a remote cerebral infarction of the temporal lobe but no signs of neurofibromatosis. We feel that the presence of multiple angiolipomas in combination with Lisch nodules lends credence to the proposed relationship between fatty tumors and neurofibromatosis suggested by other authors.
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ranking = 0.85714285714286
keywords = neurofibroma
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4/66. Malignant spinal neurofibrosarcoma.

    STUDY DESIGN: A report of a case of metastatic spinal neurofibrosarcoma. OBJECTIVE: To document metastatic neurofibrosarcoma as a cause of spinal cord compression and to review the literature. SUMMARY OF BACKGROUND DATA: Three previously reported cases of metastatic neurofibrosarcoma of the spine were reviewed. methods: The patient's clinical record and radiologic investigations as well as the result of a search of the English literature are reported. Magnetic resonance images, computed tomographic scans, and histology photomicrographs are displayed. RESULTS: paraparesis developed in this patient, due to a posterior extradural thoracic spinal cord compression by a neurofibrosarcoma believed to be metastatic from a neurofibrosarcoma of the femoral nerve. CONCLUSIONS: Malignant spinal metastasis remains a rare complication of neurofibromatosis, with a very poor prognosis.
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ranking = 0.14285714285714
keywords = neurofibroma
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5/66. Functional nerve growth factor receptor in von Recklinghausen neurofibromatosis: an immunocytochemical and short-term culture study.

    Immunocytochemistry reveals 75 kDa low affinity type nerve growth factor receptor (NGFR) on the cell membrane of human neurofibroma cells of von Recklinghausen disease in vivo and in vitro. NGF-immunoreactivity is detected in the primary and cultured tumor cells. Growth augmentation of cultured neurofibroma cells by exogenous NGF is also confirmed. phosphotyrosine-immunoreactivity is demonstrated by immunocytochemistry in the in vivo and in vitro neurofibroma cells suggesting possible phosphorylation of tyrosine residue in the NGFR or a cellular protein downstream of signal transduction through the ligand receptor system. These results indicate human neurofibroma cells possess functional NGFR and the growth is potentiated through the NGF-NGFR system in the paracrine and/or autocrine fashion.
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ranking = 1.1428571428571
keywords = neurofibroma
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6/66. Parapelvic neurofibroma of the kidney.

    We report the first case of neurofibroma causing obstruction by external compression of the upper renal pelvis. A 33-year-old woman reported a 1-year history of dull lumbar pain on the right side. A right renal parapelvic cyst was suspected. The patient underwent retroperitoneoscopic exploration. The right renal parapelvic lesion was identified as a soft tissue tumor. The tumor was removed with a retroperitoneoscopic procedure. Histopathological findings revealed neurofibroma.
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ranking = 0.85714285714286
keywords = neurofibroma
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7/66. Neurofibromatosis involving the urinary bladder.

    We present two interesting cases of a 24-year-old man and a 14-year-old boy, uncle and nephew, with lower urinary tract symptoms, cafe au lait patches and subcutaneous nodules. ultrasonography and computed tomography scans showed a large, irregular lobulated soft tissue mass between the bladder and sacrum. cystoscopy, laparotomy and biopsies revealed neurofibromatosis involving the urinary bladder. No enlargement of the tumor or upper urinary tract obstruction has occurred during the long-term follow up. We recommend meticulous follow up of patients with giant intrapelvic neurofibromatosis.
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ranking = 0.28571428571429
keywords = neurofibroma
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8/66. Pigmented (melanotic) neurofibroma. Report of an unusual case with immunohistochemical, ultrastructural and cytogenetic analyses.

    In the spectrum of neurofibromas, pigmented tumors are rare variants usually showing only faint, macroscopically obvious pigmentation. We report a case of a huge pigmented neurofibroma with extended, macroscopically striking pigmentation in a patient with stigmata of neurofibromatosis. The immunohistochemical and ultrastructural findings support a melanotic line of differentiation besides schwann cell differentiation and indicate a phenotypic neoplastic spectrum between tumorous schwann cells and melanocytes. Using comparative genomic hybridization, striking chromosomal aberrations were not detected. High level amplifications of the known chromosomal regions, including genes of major enzymes responsible for melanin synthesis, appear to be unlikely. However, smaller chromosomal defects might have been overlooked by the limited resolution of this screening method. Therefore, other mechanisms up-regulating melanogenesis, such as mutations in regulatory genes, have to be considered.
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ranking = 1
keywords = neurofibroma
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9/66. Cytologic findings of myxoid neurothekeoma: case report based on fine-needle aspiration cytology, immunohistochemistry, and correlating histopathology.

    Myxoid neurothekeomas (nerve sheath myxomas) are rare benign cutaneous neoplasms that may morphologically mimic other myxoid neoplasms of skin and soft tissue. The cytologic and histopathologic features of this lesion may resemble various myxoid sarcomas, chordoma, myxoid neurofibroma, dermal cutaneous mucinosis, and cutaneous myxoma as well as other myxoid or chondroid neoplasms. In this study, a myxoid neurothekeoma was analyzed using multiple techniques. We found that myxoid neurothekeomas reveal a nonspecific pattern by fine-needle aspiration, including stellate cells embedded within an abundant metachromatic myxoid stromal matrix. These are cytologic features shared by various other subcutaneous neoplasms and thus may not be helpful in forming a definitive diagnosis. Histopathologically, the tumor is composed of nodules of myxoid stroma containing interspersed bland spindled and stellate cells. Immunohistochemical studies show tumor cell positivity for S-100 protein and vimentin, a profile shared by other neoplasms with similar cytologic features and therefore of little diagnostic value. The histologic and cytologic differential of subcutaneous and soft tissue myxomatous lesions is broad and, therefore, is of unique value to the cytopathologist to consider myxoid neurothekeomas among the differential of other myxomatous neoplasms.
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ranking = 0.14285714285714
keywords = neurofibroma
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10/66. Multiple unilateral schwannomas: segmental neurofibromatosis type 2 or schwannomatosis?

    Schwannomas are benign solitary tumours of the peripheral nerve sheaths. The occurrence of multiple schwannomas usually implies hereditary disease. The most frequent syndrome associated with multiple schwannomas is neurofibromatosis type 2 (NF2), which is defined by bilateral vestibular schwannomas. Schwannomatosis is a distinct disease characterized by multiple pathologically proven schwannomas in the absence of vestibular schwannomas. It is not currently known if the presence of multiple schwannomas confined to a limb may represent a mosaic form of NF2 or a distinct disease, because mutation analysis of these tumours is not routinely performed. We report a 31-year-old patient who presented with multiple slowly growing subcutaneous tumours on his left arm. His family history was negative for cutaneous tumours or central nervous system disease, and he did not have additional features of NF2. Magnetic resonance tomography and ophthalmological examination excluded vestibular schwannoma and eye stigmata of NF2. After resection of three tumours, histological analysis confirmed the diagnosis of benign schwannomas. Molecular genetic analysis by temperature gradient gel electrophoresis and microsatellite marker analysis demonstrated two distinct mutations of the NF2 gene (NF2) in two different schwannomas, with concomitant loss of heterozygosity in both tumours. In contrast, neither normal skin nor peripheral blood lymphocytes revealed mutations of NF2. The clinical and molecular genetic findings suggest that the diagnosis in our patient is schwannomatosis rather than segmental NF2 because the mutations found in different tumours were not identical. The possibility of a localized predisposition for the acquisition of NF2 mutations is discussed.
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ranking = 0.71428571428571
keywords = neurofibroma
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