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

Acral myxoinflammatory fibroblastic sarcoma (AMIFS) is a low-grade sarcoma that presents mostly in distal extremities of middle-aged patients. The clinicopathologic features, immunohistochemical profile and follow-up data of five cases (three men and two women; age 39-65 years) are presented. The tumors presented as a slow-growing, poorly circumscribed, subcutaneous masses in the hands (three), foot (one) and calf (one), with dermal involvement in two cases. They had myxoid and hyaline stroma with dense acute and chronic inflammation. Spindle cells, large bizarre ganglion-like cells and multivacuolated cells were seen. Variable reactivity in lesional cells were noted for vimentin, Alpha-1-antitrypsin (A1AT), factor XIIIa, CD68, CD95, CD117, Alpha-1-antichymotrypsin (A1ACT), CD34, AE1/3, S-100 protein, EBER, CD63 and CD15. MIB-1 showed 5-30% nuclear labeling. They were negative for cytokeratin AE1/3, smooth muscle actin, CD30, ALK-1, EMA, desmin, CMV, HMB-45 and Melan-A. Follow up ranged from 2 weeks to 95 months (mean 54). One patient was lost to follow up; three underwent excision and one patient had below the knee amputation. Two patients developed metastases (one died of disease), and two patients are alive without evidence of disease. AMIFS are rare tumors that may involve joints and tendons leading to clinical diagnosis of ganglion cyst or tenosynovitis.
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PMID:Acral myxoinflammatory fibroblastic sarcomas: are they all low-grade neoplasms? 1819 Apr 43

A 40-year-old Asian female presented with a 2-month history of right shoulder pain and right triceps weakness. MRI revealed an extramedullary, extradural, dumbbell-shaped spinal cord tumor with C6 to C7 iso- and hyperintensity on T1 and T2 weighted imaging, respectively. Histological examination revealed monomorphous spindle cells with a storiform pattern. Immunohistochemistry was positive for CD34, CD99, and negative for EMA, SMA, and S100; solitary fibrous tumor (SFT) was confirmed.
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PMID:A dumbbell-shaped solitary fibrous tumor of the cervical spinal cord. 1830 86

We present a case of malignant melanoma with a rhabdoid phenotype in a 44-year-old female with a quite unique and aggressive clinical course. Rhabdoid features are defined by characteristics such as sheets or solid trabeculae of neoplastic cells with large, vesicular, round to bean-shaped nuclei, prominent centrally located nucleoli, and abundant eccentric cytoplasm. Although various histological differential diagnoses were cited for the present case that showed 'rhabdoid features', most of them were excluded on the basis of the clinical history, tumor location, clinical behavior, and a broad panel of immunohistochemical stains. In the present case, the immunohistochemical findings were positive for vimentin, S-100 protein, melan-A, and EMA, but negative for HMB45, cytokeratin, CD34 and desmin. In addition, the positive expression of BAF47 was also recognized. These findings lead to the conclusion that this quite unique aggressive soft tissue tumor should therefore be diagnosed as malignant melanoma with a rhabdoid phenotype.
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PMID:Malignant melanoma with a rhabdoid phenotype exhibiting numerous solid tumor masses: a case report. 1928 84

Angiosarcoma of the thyroid is a rare and aggressive primary malignant tumor of the thyroid originally reported in patients from the Swiss Alpine region. Diagnosis of this tumor rests mainly on characteristic histopathological features of a malignant vascular tumor supported by immunopositivity for vascular markers e.g., CD31, Factor VIII, and CD34. Its cytological features, however, are not well-defined. We describe a case of primary angiosarcoma of the thyroid in a 48-year-old female, who presented with a rapidly enlarging neck mass associated with compressive symptoms. She had a history of hypothyroidism. The initial fine needle aspiration cytology of the neck mass was negative. She then underwent left hemithyroidectomy. Histologically, the tumor showed poorly differentiated malignant cells with eccentrically-placed nuclei, prominent nucleoli, and intracytoplasmic vacuoles admixed with mixed inflammatory cells. These showed immunopositivity for CD31 but were negative for CD34, Factor VIII, CK5/6, EMA, TTF-1, Thyroglobulin, Calcitonin, Melan A, and Calretinin. A diagnosis of poorly differentiated malignant tumor consistent with angiosarcoma was made. The patient was treated with radiation therapy but developed recurrence of the tumor. Second aspiration cytology of the recurrent tumor yielded hypocellular smears containing singularly dispersed atypical cells having eccentrically-placed nuclei with prominent macronucleoli and intracytoplasmic vacuoles within a background of inflammatory cells, consistent with recurrent angiosarcoma. Chemotherapy was started but she succumbed to the disease 7 months after diagnosis. The cytological, histopathological, immunohistochemical findings, and the clinical course are discussed.
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PMID:Primary angiosarcoma of the thyroid gland with recurrence diagnosed by fine needle aspiration: a case report. 1930 11

Papillary thyroid carcinoma with metastasis to the frontal skull is extremely rare. We report a case of unsuspected papillary thyroid carcinoma with frontal skull metastasis. The patient was a 62-year-old African American woman with presentation of a 4-cm firm, painless, immobile, ill-defined mass at the right forehead. Ultrasound and computer tonography detected a hypervascular and osteolytic tumor involving the skull and overlying skin. Fine-needle aspiration was performed followed by surgical biopsy. Cytologic examination revealed the presence of hypercellular and bloody material. The neoplasm showed glandular features and was composed of clusters of round to oval cells with pinkish squamoid cytoplasm, oval nuclei and inconspicuous nucleoli on smears and sections of cell block. With immunocytochemical stain, the neoplastic cells were positive for pancytokeratin and vimentin and focally positive for EMA, while they were negative for S100, HMB45, Melan-A, CD34, GFAP, CD10, LCA, RCC and CD138. The diagnosis was a metastatic carcinoma. Clinical follow up with surgical biopsy was recommended. Surgical biopsy demonstrated histological and cytological features of papillary thyroid carcinoma including prominent papillae, nuclear overlapping, grooves, and intranuclear pseudoinclusions. Thus, a diagnosis of metastatic papillary thyroid carcinoma was rendered. Though skull metastasis of thyroid carcinoma is rare, it should be considered in the differential diagnosis when a skull mass lesion is encountered.
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PMID:Papillary thyroid carcinoma with metastasis to the frontal skull. 1945 56

Angiosarcomas of the major salivary glands are rare tumours. The authors describe a case of the tumour located in the right parotid gland of a 77-year-old woman. Histological examination revealed a poorly differentiated tumour made up of epithelioid and spindle cells. These two types of cells intermingled. In some parts, primitive mutually anastomosing irregularly shaped vascular spaces with atypical endothelial cells were found. The tumour cells were positive for CD31, CD34, EMA and FVIII (focally). Due to the relatively short follow-up period the prognosis of the disease is difficult to estimate.
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PMID:Angiosarcoma of the parotid gland. 1976 60

The author reports herein a case of occult very small lung carcinoma with a solitary brain metastasis that is clinically diagnosed as cavernous hemangioma, with an emphasis on pathologic findings. A 48-year-old Japanese man was admitted to our hospital complaining of mild paresis of left leg. Brain CT and MRI showed a solitary tumor (2 cm) with features of cavernous hemangioma in the right temporal lobe. Tumorectomy was performed, and it was pathologically undifferentiated carcinoma. An immunohistochemical analysis reveled that the carcinoma cells were positive for four types of pancytokeratin, cytokeratin (CK) 5/6, CK7, CK18, CK19, p63, and Ki-67 (78%). They were negative for high molecular weight CK, CK14, CK20, TTF-1, PE-10, melanosome, S100 protein, EMA, vimentin, CD34, myoglobin, CEA, p53, desmin, alpha-smooth muscle actin, chromogranin, synaptophysin, CD56, neuron-specific enolase, CD68, KIT, and PDGFRA. The positive CK7 and negative CK20 suggested lung origin, and cytokeratin profiles and positive CK5/6 and p63 suggested a squamous differentiation. The pathological diagnosis was undifferentiated carcinoma with squamous differentiation probably of lung origin. Later, systemic CT, MRI and PET were performed, and they detected a small lung tumor (8 mm) in the right apex. The lung biopsy revealed an undifferentiated carcinoma with focal squamous differentiation; the immunohistochemical findings were the same as those of the brain tumor. These findings suggest that occult very small lung carcinoma can metastasize to brain and such a metastasis may mimic cavernous hemangioma radiologically. Pathologic observations using many antibodies are very useful to determine the origin and histological type in solitary brain nodule.
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PMID:Occult very small lung carcinoma with a solitary brain metastasis that is clinically diagnosed as cavernous hemangioma: a case report. 1982 73

Superficial acral fibromyxoma (SAFM) is an uncommon tumor of the superficial soft tissues of acral sites. SAFM is a proliferation of fibroblastic cells, within a myxoid to collagenous stroma. The published cases mostly expressed immunoreactivity for CD34, CD99, EMA, and, less frequently, CD10. The authors report an additional case that did not express any of the previously reported markers, including CD34, and antigens of mesenchymal stromal lineage. Ultrastructural study confirmed the tumor cells were typical fibroblasts with cytoplasmic intermediate filaments and numerous cisternae of rough endoplasmic reticulum. The authors describe the first example of SAFM, ultrastructurally studied, with pure fibroblastic immunoprofile.
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PMID:Superficial acral fibromyxoma: immunohistochemical and ultrastructural analysis of a case, with literature review. 1992 77

Gastrointestinal stromal tumor is a mesenchymal tumor with KIT or PDGFRA gene mutation, occurring primarily in the stomach and intestine and rarely outside the digestive tract. KIT-negative tumors with epithelioid cell morphology and PDGFRA mutation represent a minor subset of gastrointestinal stromal tumor. Here, we describe a case of gastrointestinal stromal tumor in the liver of a 70-year-old man. The tumor was shown to be completely limited within the liver by radiologic, intraoperative, and pathologic examinations. Histopathologically, the tumor showed epithelioid cell-type morphology and immunohistochemical expression of CD34 and protein kinase C theta but was negative for cytokeratin, EMA, S-100, and HMB-45. KIT protein expression was very faint, and we judged it as negative. Mutation analysis revealed the presence of PDGFRA gene mutation (V561D) at exon 12. These findings are essentially the same as those typically seen in ordinary KIT-negative epithelioid cell-type gastrointestinal stromal tumor of the digestive tract. Although KIT-negative gastrointestinal stromal tumor occurring outside the gastrointestinal tract is very rare, this entity should be considered as a potential primary hepatic neoplasm.
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PMID:Primary gastrointestinal stromal tumor of the liver with PDGFRA gene mutation. 2009 41

A 68-year-old woman with stage pT1b1 N0 cervical squamous carcinoma had an incidental cervical polyp. The polyp measured 1.7 cm in maximal diameter and histologic evaluation showed it to be composed of spindle-shaped cells with hypercellular and hypocellular foci. The stroma was collagenized and contained several dilated vascular channels that imparted a hemangiopericytic pattern to the lesion. Immunohistochemistry showed the spindle cells to be positive for vimentin, CD99, CD34, bcl-2, ER, PR, and beta-catenin (cytoplasmic) but negative for EMA, S100, factor XIIIa, AE1/AE3, caldesmon, desmin, CD31, and smooth muscle actin. The morphology and immunophenotype was in keeping with a diagnosis of a solitary fibrous tumor (SFT). SFT shares several histologic features of a superficial cervicovaginal myofibroblastoma; the cellular variability, pattern and distribution of vessels, stromal collagenization, and desmin negativity favors SFT.
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PMID:Solitary fibrous tumor of the uterine cervix. 2017 6


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