Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reviewed the clinicopathologic features of 5 cases of malignant peripheral nerve sheath tumor (MPNST) manifesting in superficial locations associated with cutaneous neurofibromas (4 cases) or superficial peripheral nerve (1 case). Four cases had spindle cell morphologic features and were at least focally positive for S-100 protein, whereas the associated benign neural elements had more extensive S-100 immunoreactivity. The single epithelioid case was diffusely and strongly positive for S-100 protein. Melanoma markers, epithelial membrane antigen, glial fibrillary acidic protein, neurofilament, pancytokeratin (AE1/AE3), CD34, smooth muscle actin, and desmin were negative in all cases. There were no local recurrences, but 3 patients died of metastatic disease within 2 to 30 months (median, 21 months). MPNSTs can occur in a superficial location and may have an aggressive clinical course. Immunohistochemical markers are helpful in excluding other lesions in the differential diagnosis. However, identification of a benign precursor or origin from a nerve may be the most definitive way to properly classify these rare lesions.
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PMID:Superficial malignant peripheral nerve sheath tumor: a rare and challenging diagnosis. 1620 75

The treatment strategy for mesenchymal tumors of the gastrointestinal tract is based upon typing of the tumor. Especially differential diagnosis of gastrointestinal stromal tumors (GISTs) to leiomyomas is crucial for determining radicality of surgery. L1 cell adhesion molecule (CD171) plays an essential role in tumor progression. The aim of this study was to determine expression of L1 in GISTs, smooth muscle tumors, desmoid-type fibromatosis and peripheral nerve sheath tumors (PNSTs). We retrospectively analyzed a total of 129 surgically resected primary tumors or metastases of 72 GISTs, 29 smooth muscle tumors, seven PNSTs and 21 desmoid-type fibromatosis by immunohistochemistry for c-kit, CD34, smooth muscle actin, desmin, vimentin, S-100 and L1 expression. L1 expression was detected in 53 (74%) of 72 GISTs but in none of 29 smooth muscle tumors or 21 desmoid-type fibromatosis (P<0.01 by Fisher's test). In all, four (57%) of seven peripheral nerve sheath tumors were L1-positive. Survival analysis of 55 surgically completely resected GISTs presenting without metastasis at initial diagnosis revealed no tumor-specific death among L1-negative patients (P=0.13 by log-rank test; median follow-up time 41 months) and one recurrence was observed (P=0.12). Interestingly high levels of L1 were seen in tumor vascular endothelial cells of smooth muscle tumors and PNSTs, but not in GISTs. Our data show that L1 is highly expressed in GISTs but not in smooth muscle tumors and desmoid-type fibromatosis being important differential diagnoses. The trend towards a reduced survival of L1-positive patients in this study has to be further evaluated in future trials with higher patient numbers.
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PMID:L1 (CD171) is highly expressed in gastrointestinal stromal tumors. 1640 Mar 20

Spindle cell (sarcomatoid) carcinoma of the breast is a rare variant of breast cancer that has been classified under the broad rubric of metaplastic carcinoma. Because the term "metaplastic carcinoma" comprises a heterogeneous group of tumors, it has been difficult to reliably predict biologic potential or to determine optimal therapy. To better characterize the spindle cell subset of metaplastic breast carcinomas, we reviewed 29 cases. All patients were adult females ranging from 40 to 96 years of age (median, 68 years). Tumor size ranged from 1.5 to 15 cm (median, 4 cm). Treatment was by excision and/or mastectomy with axillary node evaluation in most cases, often combined with postoperative radiation and/or chemotherapy. All cases were clinically of breast origin, showed >or=80% spindled/sarcomatoid morphology, and demonstrated keratin positivity and/or close association with ductal carcinoma in situ. Immunohistochemical studies showed evidence suggesting myoepithelial differentiation as exhibited by immunoreactivity for smooth muscle actin, cytokeratin 14, and p63 in a subset of cases (39%). Twenty-seven cases exhibited pure spindled or sarcomatoid morphology of variable appearance and nuclear grade, whereas 2 contained high-grade invasive ductal carcinoma comprising <or=20% of the tumor mass. Two cases exhibited heterologous elements (1 rhabdomyosarcoma and 1 with both chondrosarcoma and osteosarcoma) and 4 were associated with ductal carcinoma in situ. Follow-up data were available on 24 of 29 patients (range, 1-120 months; median, 20 months). Of 20 cases in which axillary nodes were biopsied, definitive nodal metastases were identified in only 1 (5%), and this was in a case with a significant component of invasive ductal carcinoma. Three patients developed local recurrences. Extranodal metastases occurred in 11 of 24 patients (46%), most commonly to the lungs. Ten of 24 patients (42%) died of disease at a median interval of 11.5 months (range, 1-46 months) and 3 patients were alive with metastatic disease. Eight patients were alive with no evidence of recurrent or metastatic disease (median, 29.5 months). Based on this series, spindle cell/sarcomatoid carcinoma of the breast is a highly aggressive neoplasm with a high rate of extranodal metastases. Purely spindled/sarcomatoid tumors have a significantly lower rate of nodal metastases than conventional ductal and lobular breast carcinomas.
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PMID:Spindle cell (sarcomatoid) carcinoma of the breast: a clinicopathologic and immunohistochemical analysis of 29 cases. 1725 81

Fibrosarcoma is a malignant mesenchymal neoplasm of fibroblasts that rarely affects the oral cavity and can cause local recurrences or metastasis. In this article we describe a case of primary fibrosarcoma in the mandible in a 16-year-old girl. Microscopically the tumor showed an intense proliferation of spindle-shaped cells, varying little in size and shape and arranged in parallel bands, partly crossing each other, the mitotic activity was increased and there was nuclear pleomorphism. Immunohistochemically the cells only showed immunoreactivity for vimentin and negativity for S-100 protein, CD 68, cytokeratin cocktail, HMB-45, CD34, pan actin HHF 35, desmin, smooth muscle actin and epithelial membrane antigen (EMA). Based on clinical, radiological, histological and immunohistochemical findings the final diagnosis was high-grade intra-osseous fibrosarcoma. The treatment choice was radical surgery with mandibular reconstruction. After one year and nine months of the treatment the patient displayed multiple metastases. Radiation therapy and chemotherapy were used as adjuvant treatment. Unfortunately, the girl died two years after initial diagnosis.
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PMID:Fibrosarcoma originating in the mandible. 1664 61

There are nearly 50 PNET cases in the literature with primary renal localization. The mean age for renal PNET is 28 but it can be seen in a wide range between 4 and 69 years. In this atypical localization PNET may be mistaken with a variety of small round cell tumors, particularly with blastema predominant Wilms' tumor and due to its distinctive prognostic and therapeutic features differential diagnosis is very important. Immunohistochemical studies are useful in discriminating PNET from other renal small round cell tumors. Renal PNETs tend to metastasize at early stages and they have a high rate of recurrence. Our case is a 45-year-old male presented with left flank pain and hematuria. In computerized tomography a mass in left kidney was observed and nephrectomy was performed. Histopathologic examination revealed a small round cell tumor with rosettes and pseudorosettes. Immunohistochemically the lesion was diffuse strong positive with CD99 and NSE, negative with LCA, pancytokeratin, vimentin, desmin, smooth muscle actin, chromogranine A and S-100. At the time of diagnosis the pathologic stage of the tumor was T1aN0Mx. The patient did not take any further therapy and in 1-year follow-up no local recurrence or distant metastasize occurred.
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PMID:Primary primitive neuroectodermal tumor of the kidney: a case report. 1686 82

Pulmonary inflammatory myofibroblastic tumor (IMT) is rare. A 38-year-old woman visited our hospital 2 days after experiencing transient anterior chest pain. Chest radiography showed a nodule suggestive of adenocarcinoma in the middle lobe; however, transbronchial lung biopsy and computed tomography (CT)-guided percutaneous needle cytology showed signs of inflammation. To obtain a definitive diagnosis we performed a wedge resection using video-assisted thoracoscopic surgery and removed the nodule completely. The pathologic diagnosis made during surgery was IMT. The longest dimension of the nodule was 28 mm. Immunohistochemical examination showed proliferating spindle cells, which were positive for vimentin and smooth muscle actin, but negative for desmin, CD34, cytokeratin, epithelial membrane antigen, S100 protein, and neuron specific enolase. These findings were consistent with the staining pattern of IMT previously reported. Careful follow-up is necessary to detect any sign of local recurrence and distant metastases.
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PMID:Pulmonary inflammatory myofibroblastic tumor resected by video-assisted thoracoscopic surgery: Report of a case. 1724 33

A 54-year-old man presented with a recurrent swelling on the right occipital region of the scalp. Two months earlier, the patient had undergone an initial local excision of the lesion which had enlarged progressively over the previous 2 years on a hairless patch which had been present since birth. On examination, a 5 x 4-cm, pinkish, firm, ulcerated swelling was seen on the right occipital region with a scar running over it. The lesion was not fixed to the underlying bone and there was no regional lymphadenopathy. X-Ray of the skull was normal and no evidence of metastatic disease was identified. Wide local excision of the tumor was performed and it was sent for histopathologic examination. Specimens and slides of the earlier surgery performed elsewhere were also studied. The specimen of the initial surgery consisted of skin-covered tissue with an exophytic firm growth measuring 6 x 5 x 4 cm. The skin surface was rough with areas of ulceration. No necrosis was noted grossly. Microscopically, three distinct lesions were seen. One was a well-circumscribed tumor located in the superficial dermis with lobules of basaloid cell aggregates with peripheral palisading and with no epidermal connection. The lobules were surrounded by cellular fibrous tissue (Fig. 1). Unlike basal cell carcinoma, however, no cleft between the cellular aggregates and stroma was noted. Foci of pigmentation were seen within cellular lobules and these features were consistent with a diagnosis of tricho-blastoma. The second tumor was seen adjacent to the first, and consisted of duct-like structures and cystic spaces with papillary projections. These were lined by double-layered epithelium with stromal infiltration by plasma cells, which are features of syringocystadenoma papilliferum (Fig. 2). The third lesion was a spindle cell sarcoma which formed the major part of the lesion, diffusely infiltrating the dermis and subcutaneous tissue, elevating and ulcerating the overlying skin. The tumor consisted of interlacing fascicles of spindle cells with oval to elongated nuclei having finely dispersed chromatin and inconspicuous nucleoli. The tumor cells were seen encircling the sweat glands, without destroying them (Fig. 3). Nuclear pleomorphism was minimal, with a mitotic rate of 9-10 per high-power field. A small area of epidermal hyperplasia with acanthosis and papillomatosis overlying malformed highly placed sebaceous glands was the only evidence of a pre-existing nevus sebaceus. The status of the surgical margins was not clearly discernible. The wide excision specimen of the recurrent swelling consisted of a skin-covered nodule with ulceration, measuring 3 x 4 x 3 cm, with a gray-white whorled cut surface. No necrosis was noted grossly. Multiple sections showed only spindle cell sarcoma infiltrating the skin and subcutaneous tissue, morphologically similar to the earlier tumor, with ulceration of the overlying skin. The surgical margins were free from tumor. Immunohistochemical stains on the spindle cell sarcoma showed positive staining for smooth muscle actin (SMA) (Fig. 4), vimentin, epithelial membrane antigen (EMA), and S100. The tumor cells were negative for cytokeratin (CK), HMB45, desmin, glial fibrillary acidic protein (GFAP), CD34, and CD68. Correlating the histomorphology and immunohistochemical findings, a diagnosis of cutaneous leiomyosarcoma with tricho-blastoma and syringocystadenoma papilliferum arising on nevus sebaceus was made. The patient received postoperative radiotherapy and is disease free 8 months after diagnosis.
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PMID:Cutaneous leiomyosarcoma, trichoblastoma, and syringocystadenoma papilliferum arising from nevus sebaceus. 1734 92

Perivascular epithelioid cell tumor (PEComa) is rare entity and has been described only recently. By immunohistochemistry and genetics it belongs to the family of tumours which comprises angiomyolipoma, clear cell "sugar" tumor of lung, lymphangioleiomyomatosis and clear cell myomelanotic tumor of ligamentum falciforme/teres hepatis. We describe an unusual case of hepatic PEComa arising in a 55-year-old woman with previous history of glioblastoma. Histologically the tumor grew in expansive way, and was composed of clear and eosinophilic epithelioid cels, without vascular or lipomatous component characteristic of angiomyolipoma. There was mild nuclear pleomorphism, sporadic mitotic activity and haemorrhage without necrosis. On immunohistochemistry, the tumor was HMB-45+50, Melan-A and smooth muscle actin positive. Tyrosinase, S-100 protein, cytokeratin coctail, EMA, vimentin, muscle specific actin, CD10, TTF-1, hepatocyte, desmin and cyclin D1 were negative. Sporadic nuclear p53 positivity was seen. The main differential diagnosis of hepatic PEComa includes clear cell variant of liver cell adenoma and hepatocellular carcinoma, metastases of various clear cell carcinomas and metastasis of malignant melanoma. In respect of uncertain biologic potential of PEComa, long term follow up is indicated.
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PMID:[Perivascular epithelioid cell tumor (PEComa) of the liver: a case report and review of the literature]. 1737 Apr 72

Renal cell carcinomas associated with Xp11.2 translocations ( TFE3 gene fusions) are rare tumors predominantly reported in children. We studied 5 cases of translocation carcinoma in adult patients, 18 years or older (mean age, 32.6 years). Tumors were examined histologically, immunohistochemically, and electron microscopically and correlated with the clinical picture. Most tumors showed solid sheets of clear to eosinophilic cells with rich vasculature and foci of papillary or pseudopapillary architecture. All cases showed strong nuclear positivity for TFE3. Vimentin and CD10 were positive in the cytoplasm. A panel of cytokeratin antibodies, smooth muscle actin, CD45, HMB45, and calretinin were negative. Patients had nonspecific initial complaints and were diagnosed with advanced disease, most with distant metastases. Various treatments met with minimal success. Unlike pediatric patients, the adult patients followed a rapidly terminal course, with a mean survival of 18 months after diagnosis (range, 10-24 months).
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PMID:Xp11.2 translocation renal cell carcinoma with very aggressive course in five adults. 1758 Feb 72

A 2-year-old intact female Golden Retriever presented due to rapidly progressing depression, ascites, dysuria, abdominal pain, and severe vaginal bleeding. At necropsy, the retroperitoneal space was expanded by multiple coalescing neoplastic nodules and the uterine wall was thickened with poorly defined neoplastic infiltrates. The urinary bladder was markedly thickened due to botryoid nodules exhibiting exophytic growth into the lumen. Metastases to lung, liver, kidney, and abdominal and thoracic lymph nodes were also noted. Microscopically, the genital tract and retroperitoneal masses were consistent with the alveolar subtype of rhabdomysarcoma, while the urinary bladder mass had characteristics of the embryonal subtype. Immunohistochemically, the neoplastic cells in all these tissue sites were intensely positive for desmin, sacromeric actin, and vimentin, while they were uniformly negative for cytokeratin and smooth muscle actin. Phosphotungstic acid hematoxylin stain revealed cross-striations in the cytoplasm of scattered neoplastic cells. Based on the gross findings, histopathology, and immunohistochemistry, genitourinary rhabdomyosarcoma with multisystemic metastases was made.
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PMID:Genitourinary rhabdomyosarcoma with systemic metastasis in a young dog. 1760 14


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