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)

Based upon the experience of 256 cases of synovial sarcoma (SS), the present review analyzes structural, biological and molecular pathology of this poorly known sarcoma. The histology displays a multiphenotype with two major components: biphasic and monophasic SS. In addition, a number of variants have been described: undifferentiated Ewing's like, myoxid and predominantly epithelial (monophasic epithelial sarcoma). Microcalcifications and squamous metaplasia are often seen in the tumor. Immunohistochemistry with EMA and cytokeratin in the epithelial or epithelioid component is diagnostic for SS together with vimentin positivity in the spindle cells. Several other epitopes are also expressed (CD99, CD56, C-MET, HGF/SF, CD44). The ultrastructure confirms the variegated pattern of the neoplasm demonstrating the epithelial component and the epithelioid or spindle cell type closely associated with each other. Transition of epithelial cells to epithelioid and spindle-like mesenchymal component is seen. Nude-mice xenografts and cell lines after in vitro culture confirm heterogeneity of this sarcoma. Molecular histology of the SS has provided high utility not only for their differential diagnosis due to a specific chromosomal translocation: t(X;18)(p11.2;q11.2) but also after cloning these breakpoints resulting in the fusion of two genes: SYT at 18q11 and SSX at Xp11. Further observations have lead to distinguish the existence of two related genes: SSX1 and SSX2, that provide a highly specific and sensitive diagnostic marker for SS. Moreover, clinical correlations have demonstrated that SYT-SSX1 leads to a poor clinical outcome while the fusion SYT-SSX2 provides survival advantages to the patients.
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PMID:Synovial sarcoma (SS): new perspectives supported by modern technology. 1533 24

Ovarian small cell carcinoma of hypercalcemic type (OSCCHT) is a rare neoplasm with an aggressive behavior, broad differential diagnosis, and unknown histogenesis. To add to knowledge concerning the possible aid of immunohistochemistry in resolving problems in differential diagnosis and to further explore whether that modality points to any specific histogenesis, we undertook an immunohistochemical study of this neoplasm. Fifteen OSCCHTs (including four of the ''large cell" variant) were stained with a range of antibodies, some of which have not been investigated previously in this neoplasm. Cases were stained with AE1/3, EMA, BerEP4, CK5/6, calretinin, WT1, chromogranin, CD56, synaptophysin, CD99, NB84, desmin, S100, CD10, alpha inhibin, TTFI, and p53. Staining was classified as 0 (negative), 1+ (<5% cells positive), 2+ (5% to 25% cells positive), 3+ (26% to 50% cells positive), or 4+ (>50% cells positive). All cases were positive with p53 (two 1+, five 3+, eight 4+), 14 of 15 cases were positive with WT1 (one 1+, thirteen 4+), 14 of 15 with CD10 (three 1+, four 2+, two 3+, five 4+), 13 of 15 with EMA (three 1+, three 2+, two 3+, five 4+), 11 of 15 with calretinin (nine 1+, one 3+, one 4+), 9 of 15 with AE1/3 (eight 1+, one 2+), 4 of 15 with CD56 (one 1+, two 2+, one 4+), 3 of 15 with BerEP4 (two 2+, one 4+), 2 of 15 with synaptophysin (two 1+), and 1 of 15 with S100 (4+). All cases were negative with CK5/6, chromogranin, CD99, NB84, desmin, alpha inhibin, and TTF1. The only noticeable difference in the immunophenotype between typical OSCCHT and the large cell variant was that there was 4 +EMA positivity in three of four cases of large cell variant compared with two of 11 cases of typical OSCCHT. OSCCHT is characteristically positive with AE1/3, EMA, CD10, calretinin, WT1, and p53. Combined EMA and WT1 positivity, the latter usually intense and diffuse, may be of diagnostic value, inasmuch as only a few of the neoplasms in the differential diagnosis are positive with both antibodies. Negative staining with CD99, desmin, NB84, alpha-inhibin, and TTF1 may aid in the cases in which primitive neuroectodermal tumor, rhabdomyosarcoma, intraabdominal desmoplastic small round cell tumor, neuroblastoma, a sex cord-stromal tumor, and metastatic pulmonary small cell carcinoma are in the differential. Calretinin positivity precludes its use in the differential with granulosa cell tumors. The results of this investigation do not settle the issue of histogenesis, which remains enigmatic. The typical age distribution, follicle formation, and calretinin positivity are consistent with a sex cord origin. On the other hand, WT1 and EMA positivity and negative staining with alpha-inhibin would be unusual in a sex cord-stromal neoplasm and can be used as an argument for a surface epithelial origin. Germ cell and neuroendocrine origins seem highly unlikely.
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PMID:An immunohistochemical analysis of ovarian small cell carcinoma of hypercalcemic type. 1538 2

Rare cases of nonhepatocytic mixed stromal and epithelial tumors of the liver with associated calcification and ossification have been described previously. We report 6 similar cases in children, including 2 cases associated with ectopic ACTH production. The patients were between 2 and 14 years of age at diagnosis. All tumors presented as a solitary liver mass with no extrahepatic involvement. Two adolescent females with palpable abdominal tumors presented with Cushing syndrome that abated after excision of the tumors. The other children had tumors identified incidentally on imaging studies or at laparotomy. All tumors were well circumscribed, ranging in size from 4.0 to 30.0 cm in greatest diameter. Histologically, they shared an organoid arrangement of cellular nests that were comprised of an admixture of both spindled and epithelioid cells. These cellular nests were surrounded by a band of delicate myofibroblasts and set in a dense fibrous stroma that contained slit-like to dilated blood vessels. A variable proliferation of bile ducts extended from the fibrous stroma and focally surrounded the cellular nests. One case showed a sheet-like overgrowth of the nested cells with associated necrosis. The cellular nest cells were immunoreactive for EMA, CD56, neuron specific enolase, pan-cytokeratin (4 of 6 cases), vimentin (5 of 6 cases), and WT-1 amino terminus (4 of 6 cases). Cytokeratin and EMA stained mostly epithelioid nest cells, with vimentin and WT-1 staining predominantly the spindled nest cells. The 3 cases from adolescent females showed immunoreactivity for ACTH in the nested cell population but not in the surrounding stromal cells. Immunohistochemical stains for synaptophysin and chromogranin were negative in all cases. Psammomatous calcifications were present focally in 2 cases and were extensive in 3 cases. Ossification or osteoid formation was present in 4 cases. The 1 patient whose tumor had sheet-like overgrowth of the nested cell population had a local recurrence with multiple hepatic nodules 1 year following the original resection. A 2-year-old patient has been subsequently diagnosed with nephroblastomatosis and Wilms tumor of the kidney. Follow-up information was available in an additional 3 patients with no tumor recurrence or metastatic disease at 2, 3, and 14 years.
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PMID:Nested stromal epithelial tumor of the liver: six cases of a distinctive pediatric neoplasm with frequent calcifications and association with cushing syndrome. 1561 52

As a result of overlapping morphologic and immunohistochemical features, it can be difficult to distinguish synovial sarcoma, malignant peripheral nerve sheath tumor, and Ewing sarcoma/primitive neuroectodermal tumor in core biopsies. To analyze and compare immunohistochemical profiles, we stained tissue microarrays of 23 synovial sarcomas, 23 malignant peripheral nerve sheath tumors, and 27 Ewing sarcomas with 22 antibodies potentially useful in the differential diagnosis, and analyzed the data with cluster analysis. Stain intensity was scored as none, weak, or strong. For CD99, tumors with membranous accentuation were independently categorized. Cluster analysis sorted five groups, with like tumors clustering together. Synovial sarcoma clustered into two groups: one cytokeratin and EMA positive (n = 11), the other mostly cytokeratin negative, EMA positive, bcl-2 positive and mostly CD56 positive (n = 9). Malignant peripheral nerve sheath tumor clustered into two groups: one S100 positive, with nestin and NGFR positivity in most (n = 10), the other mostly S100 negative, and variably but mostly weakly positive for nestin and NGFR (n = 11). Ewing sarcomas clustered into a single group driven by membranous CD99 staining. Thirteen cases failed to cluster (outliers), while three Ewing sarcomas clustered into groups of other tumor types. Paired antibodies for each tumor type determined by visual assessment of cluster analysis data and statistical calculations of specificity, sensitivity, and predictive values showed that EMA/CK7 for synovial sarcoma, nestin/S100 for malignant peripheral nerve sheath tumor, and membranous CD99/Fli-1 for Ewing sarcoma yielded high specificity and positive predictive values. Cluster analysis also highlighted aberrant staining reactions and diagnostic pitfalls in these tumors. Hierarchical cluster analysis is an effective method for analyzing high-volume immunohistochemical data.
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PMID:Cluster analysis of immunohistochemical profiles in synovial sarcoma, malignant peripheral nerve sheath tumor, and Ewing sarcoma. 1652 78

Synovial sarcoma (SS) is an uncommon soft tissue tumor occurring mainly in the periarticular region of the extremities of young adults. In this report, we describe a very rare occurrence of primary SS of the esophagus in a 72-year-old woman. Histologically, the tumor demonstrated biphasic morphologic findings associated with poorly differentiated areas. Tumor cells expressed vimentin, epithelial (EMA, CK7, AE1/3), bcl-2 and neuroectodermal (CD56, CD57, CD99) antigens. Differential diagnose included esophageal sarcomatoid carcinoma. Cytogenetic analysis confirmed the diagnosis of SS by identifying t(X;18) translocation. The literature of this very uncommon entity of the esophagus is reviewed.
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PMID:Diagnosis of primary esophageal synovial sarcoma by demonstration of t(X;18) translocation: a case report. 1678 28

We report detailed clinical and pathologic features of four cases of anaplastic lymphoma kinase-positive diffuse large B-cell lymphoma (ALK-DLBCL), a rare entity with only 29 currently reported cases. This study is the third largest of all reported series. Biopsies from four adult patients aged 41, 49, 53, and 71 years (three lymph nodes and one nasopharyngeal mass) exhibited immunoblastic/plasmablastic morphology. By immunohistochemistry and/or flow cytometry, they expressed cytoplasmic ALK-1, CD138, VS38 (3/3), monoclonal cytoplasmic light chain, CD45, EMA, CD4, and CD57 (2/3), and were negative for CD3, CD30, CD56, and TIA-1. Two showed variable CD79a expression, and one had rare CD20(+) cells. Two of three cases exhibited rare CD43(+) reactivity. One case showed scattered cytokeratin(+) cells, which could possibly lead to a misdiagnosis of carcinoma. After CHOP and radiotherapy, two stage I patients were free of disease at 58 and 36 months, whereas a stage IV patient was dead of disease at 22 months.
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PMID:ALK-positive diffuse large B-cell lymphoma: report of four cases and review of the literature. 1727 65

Clear cell sarcoma (CCS) is a high grade soft tissue sarcoma with a distinct molecular profile and with morphological features resembling those of melanoma. CCS has been rarely described in other locations other than the soft tissues, including the gastrointestinal tract. In this study, we report a case of CCS arising in the ileum of a 31-year-old woman. Histologically, the tumor involved the entire thickness of the intestinal wall. Tumor cells were polygonal or fusiform, with clear or eosinophilic cytoplasm, arranged in a uniform nested to fascicular growth pattern. Immunohistochemical studies revealed strong positivity for vimentin and S-100 protein. HMB-45, Melan-A, tyrosinase, cytokeratins, EMA, smooth muscle actin, CD34, CD31, CD117, CD99, synaptophysin, chromogranin A, CD56, and NSE were negative. Fluorescence in situ hybridization analysis demonstrated the presence of a t(12;22)(q13;q12) translocation, the diagnostic hallmark of CCS of soft parts. The present case, together with a detailed review of the literature on this topic, demonstrates that the gastrointestinal tract is a possible site of CCS of soft tissues and that making a reliable diagnosis of this tumor requires cytogenetic or molecular diagnostic investigations.
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PMID:Clear cell sarcoma of the ileum: report of a case and review of literature. 1763 26

Perineurioma is a rare, benign tumour of the perineurium, which develops mostly on the nerves of the extremities. The neoplasm related to a genetic mutation on the 22nd chromosome, is a rarity on the vagal nerve branches. Authors report the case of a 15-year-old female with an immunhistochemically verified (focal EMA positive, vimentin, CD56 positive) perineurioma originating from the left recurrent laryngeal nerve. After the removal of the tumour together with the involved 2-cm-long part of the nerve, vocal fold palsy developed with aphonia (left vocal fold was in intermedian position). The treatment had to be chosen carefully as the larynx was still in growth. In our case there was no possibility of spontaneous regeneration, thus we chose lipoaugmentation of the left vocal fold, which does not affect the laryngeal framework, so causes the least harm to the larynx. Following surgery the patient's voice reached the normal range (before lipoaugmentation perception (0-100): G40 B80 R40 Acoustics: Ji 1.1%, Shi 10.8% Harmonicity: 13.9 dB maximum phonation time (MPT) 5 s after augmentation, Perception: G10 B10 R20, Acoustics: Ji 0.3 %, Shi 2.6%, Harmonicity: 21.2 dB MPT 22 s). This result was permanent, as the regularly performed objective voice evaluations confirmed during the 2-year follow-up.
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PMID:Perineurioma originating from the recurrent laryngeal nerve, and the phonochirurgical treatment of the developed vocal fold palsy. 1768 60

Primary pure small cell carcinoma of the urinary bladder is an extremely rare and highly aggressive tumor with an average five-year survival rate of less than 10% as cited by multiple case reports. It accounts for about 0.5-1% of all bladder tumors. We present the case of a 44-years-old man, smoker (10 cigarettes/day) hospitalized in the Department of Urology, from the "Prof. dr. Th. Burghele" Hospital, Bucharest, for one month intermittent hematuria. Ultrasonography showed a sessile tumoral mass, sized 37/30mm. Transurethral resection of the tumor mass was performed and tissue fragments were sent to the pathologic lab to establish the histologic type, the degree of differentiation and invasion. Fragments of the tumor were fixed in 10% formaldehyde, paraffin embedded and processed as standard technique; the sections were stained with HE, VG and immunohistochemically with: CROMO, EMA, NSE, CD56, NK1, p53 and betaHCG. The microscopic examination reveled a tumor proliferation composed of two distinct components: extensive small cells areas and foci of typical low grade (G2) papillary urothelial carcinoma. The small cell are uniformly, round, with increased nucleo-cytoplasmic ratio, eosinophyl cytoplasm, hyperchromatic nuclei, finely granular chromatin and inconspicuous nucleoli. Immunohistochemical stains showed diffuse positive staining of the small cell component for CROMO, EMA, NSE, CD56, NK1 and urothelial carcinoma component stained focally for betaHCG. The rate of cell proliferation was increased (p53 - 80% positive reaction). Conclusions. A diagnosis of small cell carcinoma coexisting with low-grade urothelial carcinoma was established. Because of aggressive behavior and distinct treatment, the pathologist should watch out for the presence of small cell carcinoma component.
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PMID:Small cell carcinoma of the urinary bladder--a new case report. 1791 2

We report a case of a 73-year-old female with a rare simultaneous occurrence of three tumors: ovarian carcinoma, endometrial carcinoma, and breast carcinoma. The ovarian tumor was a primary pure large-cell neuroendocrine carcinoma. Grossly, the left ovary was enlarged by a solid tumor that measured 9 x 7 x 7 cm. Histologically, the tumor consisted of large cells with irregular hyperchromatic nuclei and a moderate amount of eosinophilic cytoplasm. In some areas, the tumor cells were arranged in solid sheets; however, the predominant pattern was cribriform and solid-alveolar, with palisaded tumor cells located peripherally. The tumor cells showed multiple mitotic figures (up to 43 mitoses/10 HPF). Large areas of tumor necrosis were found. Immunohistochemically, the tumor cells were positive for EMA, synaptophysin, chromogranin, CD56, and CEA. Cytokeratin 20 was positive focally. Primary large-cell neuroendocrine carcinoma of the ovary is a rare tumor. To the best of our knowledge, only 4 cases of a pure tumor of this type have been reported to date.
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PMID:Primary pure large-cell neuroendocrine carcinoma of the ovary. 1816 57


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