Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A primary cellular blue nevus (melanocytoma) of the spinal canal in a 21-year-old woman is reported. Light microscopic examination revealed a melanotic neoplasm with histological patterns resembling schwannoma, dermal nevi, and neuroblastic-like tumor. The ultrastructural features of the neoplastic cells were similar to those in dermal blue nevi and melanomas. There was no evidence of arachnoidal cell differentiation. Immunohistochemistry revealed positive reactions for S-100 protein and neuron-specific enolase in many cells and no reactions for glial fibrillary acidic protein, cytokeratins, epithelial membrane antigen, 70-kD neurofilament protein, or Leu-7. Vimentin was strongly positive in the melanocytic cells as well as in the arachnoidal cells of involved meninges. The ultrastructural and immunohistochemical features support the nevoid nature of this tumor, which is frequently mislabeled as "melanotic meningioma."
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PMID:Cellular blue nevus ("melanocytoma") of the spinal meninges: electron microscopic and immunohistochemical features. 337 92

The phosphorylation and dephosphorylation of specific proteins was demonstrated directly in the intact vertebrate nervous system in vivo. By exploiting the neurons' ability to segregate a select group of cytoskeletal proteins from most other phosphorylated constituents of the cell by axoplasmic transport, we were able to examine the dynamics of phosphate turnover on neurofilament proteins in mouse retinal ganglion cell neurons simultaneously labeled with [32P]orthophosphate and [3H]proline in vivo. Three [3H]proline-labeled neurofilament protein (NFP) subunits, designated H (160-200 kDa), M (135-145 kDa), and L (68-70 kDa), entered optic axons in a mole:mole ratio similar to that of isolated axonal neurofilaments, supporting the notion that newly synthesized NFPs are transported along axons as assembled neurofilaments. NFP subunits incorporated high levels of 32P before reaching axonal sites at the level of the optic nerve. As neurofilaments were transported along axons, however, many initially incorporated [32P]phosphate groups were removed. Loss of these phosphate groups occurred to a different extent on each subunit. A minimum of 50-60 and 35-40% of the labeled phosphate groups was removed in a 5-day period from the L and M subunits, respectively. By contrast, the H subunit exhibited relatively little or no phosphate turnover during the same period. Dephosphorylation of L in axons is accompanied by a decrease in its net state of phosphorylation; changes in the phosphorylation state of H and M, however, also reflect ongoing addition of phosphates to these polypeptides during axonal transport (Nixon, R.A., Lewis, S.E., and Marotta, C.A. (1986) J. Neurosci., in press). The possibility is raised that dynamic rearrangements of phosphate topography on NFPs represent a mechanism to coordinate interactions of neurofilaments with other proteins as these elements are transported and incorporated into the stationary cytoskeleton along retinal ganglion cell axons.
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PMID:Differential turnover of phosphate groups on neurofilament subunits in mammalian neurons in vivo. 378 20

The monoclonal antibody CD 68 (KP 1) reacts with fibrohistiocytic and some epithelial neoplasms; its reactivity compared with that of HMB 45 in malignant melanoma (MM) and neural tumors needs further elucidation. Using a streptavidin-biotin-immunoperoxidase procedure, we examined the reactivity of 65 MM (46 conventional, 1 polypoid, 6 desmoplastic [DMM], and 12 metastatic), 21 neurofibromas, 1 neurofibrosarcoma, 10 schwannomas, 1 perineurioma, 2 neurothekeomas, and 14 blue and 26 other nevi for CD-68, HMB-45-defined antigen, S 100 and neurofilament protein. A positive staining for CD 68 was observed in 38 of 42 primary, 5 of 6 DMM, and 11 of 12 metastatic melanomas; 6 of 10 schwannomas; 5 of 10 nevi with junctional component and all 14 blue nevi. All 21 neurofibromas, 1 each neurofibrosarcoma and perineurioma, both neurothekeomas, and all 12 nevi with dermal component were CD 68-negative. HBM 45 was expressed by all 44 primary, none of 6 DMM, and 7 of 12 metastatic melanomas; by none of 10 schwannomas, 6 neurofibromas, 1 neurofibrosarcoma, 1 perineurioma and 2 neurothekeomas. Both junctional nevi, 8 of 10 nevi with junctional components, 1 of 10 dermal components of junctional nevi, and 11 of 13 blue nevi were also HMB 45 positive. Except for 1 perineurioma, S 100 decorated all tumors examined. NF was immunoreactive in 1 of 45 conventional melanomas, 2 of 21 neurofibromas, 2 of 10 schwannomas, and 3 of 10 blue nevi; it was non-reactive in all polypoid, desmoplastic and metastatic melanomas; neurofibrosarcoma, perineurioma, neurothekeoma and other nevi. We conclude that the CD-68-reactivity in primary melanomas, neurofibromas, neurofibrosarcomas, perineuriomas, and nevi was similar to that of HMB 45. The significantly higher CD 68-positivity than of HMB 45 in metastatic and desmoplastic melanomas and schwannomas may be of diagnostic value.
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PMID:Comparative immunoreactivity of CD-68 and HMB-45 in malignant melanoma, neural tumors and nevi. 934 56

Rho-associated kinase (Rho-kinase), the putative target of the small GTP-binding protein Rho, phosphorylated neurofilament protein (NF-L) in vitro with approximately 1 mole phosphate per mole NF-L. Phosphorylated NF-L no longer formed the 10 nm filaments, and NF-L filaments were phosphorylated with a result of nearly complete disassembly. NF-L phosphorylated by Rho-kinase was digested with trypsin, and digested fragments were assigned by MALDI/TOF. Unique phosphorylation sites were found at Ser-26 and Ser-57 in the head domain of NF-L. These results indicate that domain- and site-specific phosphorylation by Rho-kinase may regulate the assembly-disassembly of NF-L filaments.
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PMID:Domain- and site-specific phosphorylation of bovine NF-L by Rho-associated kinase. 957 Nov 64

Rosette formation is a feature that has not been described as occurring in melanocytic neoplasms. We present such a unique case. A 59-year-old man presented with an asymptomatic, soft, hairy 3.0 x 2.0-cm pigmented lesion that had been present for many years in the right external ear, extending from the conchal bowl onto the antitragus area. Examination of histologic sections showed a proliferation of nonatypical and heavily pigmented melanocytes in the superficial dermis and around deep adnexal structures, characteristic of a congenital nevus. In other areas, pigmented spindled and dendritic cells infiltrated thickened collagen bundles in a pattern of a blue nevus. A nodular proliferation of epithelioid melanocytes was seen within the deep dermis and subcutaneous tissue. The periphery of the nodule merged with the surrounding nevus cells. Neoplastic cells with nuclear atypia, melanin pigment, pseudonuclear inclusions, and balloon cell change were present. In addition, there was rosette formation by the tumor cells, with a central aggregate of coarse cell processes. Neuroid cords were also noted. No prominent mitotic figures, necrosis, or significant inflammatory infiltrate were noted. The neoplastic cells were positive for S-100 protein, Mart-1, tyrosinase, neuron-specific enolase, and vimentin. HMB-45 and Ki-67 (MIB-1) labeled only rare neoplastic cells within the proliferative nodule. The tumor cells were negative for synaptophysin, protein gene product 9.5, CD57, epithelial membrane antigen, CD31, and CD34. The central cell processes of the rosettes were negative for trichome, type IV collagen, neurofilament protein, glial fibrillary acidic protein, and tyrosine hydroxylase. We also retrospectively examined 78 congenital nevi of 65 pediatric patients at our institution. Rosette formation was not seen in any of these cases.
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PMID:Rosette formation within a proliferative nodule of an atypical combined melanocytic nevus in an adult. 1287 2

Spindle cell lipoma located in the dermis is uncommon. The plexiform variant of this tumor is rare. In fact, only six cases of this variant have been described previously. We report herein a case of dermal plexiform spindle cell lipoma with prominent myxoid matrix. A 47-year-old male patient presented with a solitary, 2.2 cm-cutaneous mass in the right buttock region that had slowly increased in size for over one year. The dermal lesion was characterized by a mixture of mature adipocytes, spindle shaped cells and inconspicuous ropey collagen bundles in a mucinous background. This lesion showed a fascicular and plexiform pattern with adipocytes irregularly arranged, predominant in the depth of the lesion. Immunohistochemically, the spindle cells were positive for CD34, factor XIIIa, and vimentin, and negative for retinoblastoma protein, claudin-1, GLUT-1, epithelial membrane antigen, neurofilament protein, and Sox-10. S100 protein stained a thinned cytoplasmic rim of mature adipocytes and labeled about 25% of spindle cells in the most superficial areas. A review of the seven cases published, including the present report, revealed that there were five females and two males. Most cases located in the thigh-groin-buttock area. The age of the patients ranged from 32 to 58 years with a mean of 45.7 years. Clinical diagnosis suggested a lipomatous or neural tumor in six cases. The main differential diagnosis includes dermal intraneural plexiform neurofibroma and purely intradermal monophasic plexiform spindle cell nevus.
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PMID:Dermal plexiform spindle cell lipoma. 2783 86