Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0268596 (EMA)
 2,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myofibroblastic differentiation occurs in 10-20% of all dermatofibromas, affecting < 25% of cells. We report on a series of 36 dermatofibromas collected from > 1,500 fibrohistiocytic lesions (2%), with more prominent (> 25%) myofibroblastic differentiation characterized by markedly slender and elongated spindle cells positive for smooth muscle markers. While most of the lesions did not otherwise differ from ordinary dermatofibromas, three cases (0.2%) from the neck-shoulder region of male adults showed extensive myofibroblastic features (> 90%). Clinically, these three lesions measured approximately 1 cm and had a firm consistency, with the differential diagnosis of some fibrohistiocytic tissue response. Histologically, densely packed cells and prominent, partially nodular, stromal sclerosis with focal palisading of nuclei indicate some overlap with other rare variants of fibrohistiocytic tissue response, such as cellular benign and palisading cutaneous fibrous histiocytoma. Yet, these features together with focal whorled nesting of more epithelioid cells (one case) also caused considerable diagnostic problems to exclude other myofibroblastic as well as (malignant) spindle cell lesions such as (palisaded) myofibroblastoma, dermatofibrosarcoma protuberans, and neurothekeoma. Immunohistochemically, all lesions were markedly (> 90%) labeled for smooth muscle markers (HHF35, anti-SMA) and with NK1C3 (CD57), while a broad panel for other spindle cell tumors, such as pan-keratin, S100 protein, EMA, desmin, CD34, CD31, and KiM1p, were negative. Electron microscopy of two cases revealed prominent endoplasmic reticulum and Golgi complex, numerous intermediate filaments, attachment plaques, and focal basal lamina formation. No recurrence was seen during a follow-up of 9 (two cases) and two years, respectively.
 ...
PMID:Prominent myofibroblastic differentiation. A pitfall in the diagnosis of dermatofibroma. 912 98

Until recently, benign cutaneous neural tumours which do not fulfill criteria for either neurofibroma or schwannoma often were lumped into the broad category of benign peripheral nerve sheath tumours (PNST). However, during the last years a number of new entities of neural tumours has been described, and advances in immunohistochemistry and electronmicroscopy have helped us better to understand the cytological differentiation in these neoplasms. The knowledge of these distinctive neoplasms is necessary in order to avoid diagnostic pitfalls and misdiagnosis of more aggressive neoplasms. These distinctive lesions include: Neurothekeoma, which can be divided into classical myxoid and cellular types showing characteristic histological and immunohistochemical features. Typical neurothekeoma (nerve sheath myxoma) is a lobular or nodular dermal neoplasm composed of plump spindled or stellated S-100 positive tumour cells set in a myxoid stroma. In contrast cellular neurothekeoma is characterized as an ill-defined dermal neoplasm composed of concentric nests and fascicles of spindle-shaped and epitheloid tumour cells, which are S-100 negative but stain positively for NKIC3. The evidence of intermediate forms of neurothekeoma showing features of ordinary, hypocellular neurothekeoma and cellular neurothekeoma, as well as ultrastructural studies emphasize, that both variants represent a spectrum of neurothekeoma. Solitary circumscribed neuroma ("palisaded encapsulated neuroma") manifests mainly as a skin-colored or pink papule or nodule, and is most often located on the face. Histologically, solitary circumscribed neuroma is a well-circumscribed round or ovoid dermal neoplasm composed of interwoven fascicles of schwann cells, which stain positively for S-100 protein, and numerous neurofilament positive axons surrounded partly by fibroblasts and EMA-positive perineurial cells. Perineurioma is a rare well-circumscribed neoplasm which occurs mainly in subcutaneous tissue and only rarely in the dermis and in deep soft tissue. Perineurioma is composed of elongated bipolar spindle-shaped tumour cells which are arranged in a storiform, linear or lamellated growth pattern. The tumour cells stain positively for vimentin and EMA, and for CD34 in a number of cases, but lack positivity for S-100 protein, neurofilament and desmoplakin. In addition unusual forms of schwannoma including cellular schwannoma, solitary plexiform schwannoma, and melanocytic schwannoma are briefly discussed.
 ...
PMID:[Cutaneous neural neoplasms--an update]. 1009 51

Until recently, benign cutaneous neural tumours which do not fulfil criteria for either neurofibrom or schwannoma often were lumped into the broad category of benign peripheral nerve sheath tumours (PNST). However, during the last years a number of new entities of neural tumours have been described, and advances in immunohistochemistry and electronmicroscopy have helped us to better understand the cytological differentiation in these neoplasms. The knowledge of these distinctive neoplasms is necessary in order to avoid diagnostic pitfalls and misdiagnosis of more aggressive neoplasms. These distinctive lesions include: neurothekeoma, which can divided into classical myxoid and cellular types showing characteristic histological and immunohistochemical features. Typical neurothekeoma (nerve sheath myxoma) is a lobular or nodular dermal neoplasm composed of plump spindled or stellated, S-100 positive tumour cells set in a maxoid stroma. In contrast, cellular neurothekeoma is characterized as an ill-defined dermal neoplasm composed of concentric nests and fascicles of spindle-shaped and epithelioid tumour cells, which are S-100 negative but stain positively for NKIC3. The evidence of intermediate forms of neurothekeoma showing features of ordinary hypocellular neurothekeoma and cellular neurothekeoma, as well as ultrastructural studies, emphasize that both variants represent a spectrum of neurothekeoma; solitary circumscribed neuroma ("palisaded encapsulated neuroma") manifests mainly as a skin-colored or pink papule or nodule, and is most often located on the face. Histologically, solitary circumscribed neuroma is a well-circumscribed round or ovoid dermal neoplasm composed of interwoven fascicles of schwann cells, which stain positively for S-100 protein and numerous neurofilament positive axons surrounded partly by fibroblasts and EMA-positive perineural cells; perineurioma is a rare well-circumscribed neoplasm which occurs mainly in subcutaneous tissue and only rarely in the dermis and in deep soft tissues. Perineurioma is composed of elongated bipolar spindle-shaped tumour cells which are arranged in storiform, whorled, linear or lamellated growth patterns, The tumour cells stain positively for vimentin and EMA, and for CD 34 in a number of cases, but lack positivity for S-100 protein, neurofilament and desmoplakin. In addition unusual forms of schwannoma (cellular schwannoma, solitary plexiform schwannoma, melanotic schwannoma) and neurofibroma ("atypical" (bizarre) neurofibroma, diffuse neurofibroma, epithelioid neurofibroma) are briefly discussed.
 ...
PMID:[Cutaneous neural neoplasms--an update]. 1032 Sep 97

We report a case of cellular neurothekeoma showing unusual immunohistochemical findings and occurring on the left upper arm of a healthy 48-year-old woman. She presented with a 1 cm, red, asymptomatic, dermal nodule of 1 year duration. A biopsy showed dermal proliferation of plexiform fascicles of spindle-shaped or polygonal cells with plentiful eosinophilic cytoplasms. The immunohistochemical profile included negative stains for S-100, CD34, factor XIIIa, CD68, HMB45, cytokeratins, and EMA, strongly positive stains for neuron specific enolase (NSE), synaptophysin, and chromogranin A, and focally positive ones for NKI/C3 and alpha-smooth muscle actin. Ultrastructural analysis showed undifferentiated mesenchymal cells with cytoplasmic projections and abundant RER. Although we couldn't find any confirmative cell type in this cellular tumor, we believe that cellular neurothekeoma is predominantly composed of undifferentiated cells that can exhibit features of neuroendocrine cells in addition to fibroblastic or myofibroblastic ones, suggesting a divergent cell origin.
 ...
PMID:Cellular neurothekeoma with possible neuroendocrine differentiation. 1040 81

Nerve sheath myxoma (NSM) is a benign peripheral nerve sheath tumor that rarely occurs in the oral cavity. Among the 23 reported intraoral cases, no lesion has previously been reported on the gingiva. In this report, we describe the first gingival case of oral neurothekeoma with histopathologic and immunohistochemical characteristics. The patient, a 32 year old female presented with a slowly growing gingival mass diagnosed clinically as an epulis. The lesion was surgically excised. Histopathologically, the lesion presented as a submucosal multinodular mass composed of spindle and stellate-shaped cells with a myxoid background. Immunohistochemically, the tumor cells were sporadically positive for S-100 and NSE and negative for GFAP, EMA, SMA, CD68 and HMB45. The immunoprofile of this lesion confirmed a Schwann cell origin. The lesion was followed up for 10 months with no reports of recurrence.
 ...
PMID:Nerve sheath myxoma (neurothekeoma) of the gingiva, a case report and review of the literature. 2050 96

There are several recent reports describing hybrid peripheral nerve sheath tumors showing a biphasic component of neoplastic cells. These combinations include a mixture of neurofibroma and schwannoma, schwannoma and perineurioma, neurofibroma and perineurioma, and perineurioma and granular cell tumor. A case of a triphasic combination of neurofibroma, schwannoma, and perineurioma has also been described. We describe the clinicopathologic and immunohistochemical characteristics of 9 cases of a benign cutaneous plexiform nerve sheath tumor located on the lips and exhibiting hybrid features of perineurioma and cellular neurothekeoma. Clinically, lesions were solitary dome-shaped papules located on the lips. Histopathologically, the neoplasms consisted of well-circumscribed but uncapsulated dermal nodules with a plexiform pattern. They were composed of nests or rounded aggregations of neoplastic cells embedded in a slightly myxoid stroma. Within the aggregates, cells were distributed in a storiform and lamellar pattern. Immunohistochemically, most neoplastic cells expressed strong immunoreactivity for S100A6, MiTF, NKI/C3, PGP9.5, EMA, and NSE, whereas variable, focal, and weaker positivity for CD34, claudin-1, and Glut-1 was seen in some cases. On the basis of these findings, we believe that this neoplasm is a distinctive benign cutaneous plexiform nerve sheath tumor with histopathologic and immunohistochemical hybrid features of perineurioma and cellular neurothekeoma.
 ...
PMID:A benign cutaneous plexiform hybrid tumor of perineurioma and cellular neurothekeoma. 2410 68

Benign cutaneous plexiform hybrid tumor of perineurioma and cellular neurothekeoma (BCPHTPCN) is a recently described entity that presents as a solitary papule in the perioral area. As implied by its name, BCPHTPCN displays microscopic features of both perineurioma and cellular neurothekeoma arranged in a plexiform pattern. We report a case of nonplexiform benign cutaneous biphasic hybrid tumor of perineurioma and cellular neurothekeoma in a 36-year-old woman, who presented with a 4-year history of a firm, flesh-colored left ankle nodule. Histologically, there was a biphasic, well-circumscribed unencapsulated dermal mesenchymal proliferation with no connection to the epidermis, which exhibited mild acanthosis with slightly pigmented basal keratinocytes and overlying parakeratosis. The proliferation consisted of uniform bland spindle cells with bipolar cytoplasmic processes arranged in whorls with interspersed islands of epithelioid cells. Immunohistochemically, the spindle cell component was positive for CD34, EMA, and GLUT-1, consistent with perineurial differentiation, whereas the epithelioid nests were positive for NKI/C3 and MiTF, as expected in neurothekeoma. Stains for S100 protein, SOX10, desmin, claudin, pan-melanoma markers, and NSE were negative. We believe this case expands the histopathologic spectrum of BCPHTPCN showing that it can be grown in a nonplexiform pattern, and we suggest the term benign cutaneous biphasic hybrid tumor of perineurioma and cellular neurothekeoma as a more precise name. It is also, to the best of our knowledge, the first case reported outside the head and neck area.
 ...
PMID:Benign cutaneous biphasic hybrid tumor of perineurioma and cellular neurothekeoma: A case report expanding the clinical and histopathologic features of a recently described entity. 2522 67

The term meningioma-like tumor of the skin (MLTS) was coined in 1993 to designate a particular whorled spindle cell superficial cutaneous tumor. No additional confirmed cases of this entity have been reported to date. Some authors have speculated that these cases might be cellular neurothekeomas. In order to delineate the histologic spectrum and the immunophenotype of this unusual tumor, we studied 5 cases, 2 previously unreported and the 3 original cases. The immunohistochemical findings of case 5, however, were limited to those from the original study. Clinically, the tumor presented as a reddish papule, plaque, or nodule, located in the extremities or trunk. The patient often referred to a recent growth of a longstanding lesion. Histologically, the characteristic whorled spindle and stellate dendritic cell population, commonly in a perivascular arrangement, and variable myxoid component, were consistently found in all cases. A prominent microvasculature was also a constant finding. The presence of large deciduoid cells was conspicuous in one case. A reticular pattern of multivacuolated cells giving a chordoma-like appearance was evident in another case. Tumor cells were diffusely positive for CD34 in all 4 cases studied, and negative for S-100, EMA, NKI-C3, CD68, and smooth muscle markers. No complete loss of retinoblastoma protein was found. No brachyury immunostaining was found in the case with chordoid features. No EWSR1 or NAB2-STAT6 gene fusions were found. From these findings, we demonstrate that MLTS is a distinct CD34 spindle cell benign dermal tumor, unrelated to cellular neurothekeoma, and exhibiting myxoid, deciduoid, or chordoma-like features.
 ...
PMID:Meningioma-like Tumor of the Skin Revisited: A Distinct CD34+ Dermal Tumor With an Expanded Histologic Spectrum. 3149 Feb 35