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)

Basaloid carcinoma of the breast (BCB) is an unusual neoplasm composed of basal-type neoplastic cells similar to those found in adenoid cystic carcinoma (ACC), although lacking distinctive features such as a cribriform pattern, a dual neoplastic population (epithelial-myoepithelial/basaloid), and stromal deposits of basement membrane-like material. In this article, we present 9 cases of breast cancer showing overall/predominant basaloid morphology. Patients' ages ranged from 47 to 75 years (mean, 61.4 years). Surgical treatment included mastectomy or quadrant excision with or without axillary dissection. Most tumors had a circumscribed outline and ranged in size from 1.3 to 5.5 cm (mean, 2.5 cm). Microscopically, they featured sheets, nests, and cords of proliferating basaloid tumor cells with ovoid, hyperchromatic nuclei with inconspicuous nucleoli and scant cytoplasm. No foci with characteristics of ACC were found in any of the tumors. Transition into pleomorphic basaloid carcinoma with foci of high-grade ductal carcinoma in situ plus infiltrating ductal carcinoma (IDC) and admixture with grade 3 ductal and sarcomatoid carcinoma was seen in 2 cases. Tumor cells were positive for wide-spectrum keratins and epithelial membrane antigen (9/9) and high-molecular-weight keratins (7/9). They were negative for smooth muscle actin, p63, calponin, and CD10 in all tested cases. Estrogen receptor, progesterone receptor, and HER-2 were negative. Axillary lymph node metastases were seen in 3 cases. At follow-up (range, 10-169 months), 5 patients were alive, 1 with evidence of contralateral breast cancer. Three patients died: one of disseminated BCB metastases, another of liver cirrhosis, and one of disseminated estrogen receptor/progesterone receptor-positive contralateral IDC. One patient was lost to follow-up. We concluded that BCB has some phenotypic and immunohistochemical features enabling its distinction from ACC or IDC. It appears to be a morphological and possibly a clinical entity. Compared with ACC, BCB appears to be more aggressive and may entail a more guarded prognosis.
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PMID:Basaloid carcinoma of the breast: a review of 9 cases, with delineation of a possible clinicopathologic entity. 1816 8

The authors report a case of hepatocellular carcinoma (HCC) diagnosed by evaluation of a cutaneous metastasis in a patient without a prior diagnosis of HCC. Subsequent evaluation confirmed the presence of additional widespread metastatic disease. The medical literature is reviewed with regards to cutaneous metastasis, including precocious metastasis, of HCC. The pathologic evaluation of HCC is reviewed, including a discussion of the immunohistochemical profile of this malignancy and the utility of hepatocyte paraffin 1, CD10, and polyclonal carcinoembryonic antigen (pCEA) immunohistochemical stains.
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PMID:Hepatocellular carcinoma presenting as a precocious cutaneous metastasis. 1821 52

Papillary renal cell carcinoma (PRCC) can display extensive areas of solid and non-papillary architecture and extensive areas with oncocytic cytoplasm. Eleven oncocytic renal cell neoplasms (ORCN) with histopathological features posing a diagnostic problem between renal cell carcinoma (RCC) with oncocytic features and renal oncocytoma (RO) were identified. The neoplasms were well circumscribed or encapsulated tumors with solid and diffuse growth pattern. Very occasional papillae were seen in four and tumoral necrosis in two of 11. Six ORCN displayed a CD117+/progesterone receptor (PR)+ immunophenotype (feature shared by RO) and five tumors displayed a CD117-/PR- immunophenotype (feature shared by RCC). The CD117-/PR- ORCN also displayed alpha-methylacyl-coenzyme A racemase and RCC antigen reactivity as well as varying reactivity for cytokeratin 7, vimentin and CD10 (features of oncocytic PRCC). These five cases had tumor sizes ranging from 1 to 6 cm. Two patients in the latter group developed progression of the disease with metastases. In conclusion, oncocytic PRCC with solid architecture is a rare type of RCC. The carcinoma often poses differential diagnostic problems with RO and has similar immunohistochemical properties to the common type of PRCC. Cytogenetic and molecular studies have not been performed yet for this variant of RCC.
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PMID:Oncocytic papillary renal cell carcinoma with solid architecture: mimic of renal oncocytoma. 1825 79

We report clinicopathologic features of a large series of renal translocation carcinomas from a multicentric study. Diagnosis was performed by cytogenetic examination of fresh material and/or by immunochemistry with antibodies directed against the C-terminal part of transcription factor E3 (TFE3) and native transcription factor EB (TFEB) proteins. Clinical data, follow-up, and histologic features were assessed. Antibodies against CK7, CD10, vimentin, epithelial membrane antigen, AE1-AE3, E-cadherin, alpha-methylacyl-coenzyme A racemase, melan A, and HMB45 were tested on tissue microarrays. Whole-genome microarray expression profiling was performed on 4 tumors. Twenty-nine cases were diagnosed as TFE3 and 2 as TFEB renal translocation carcinomas, including 13 males and 18 females, mean age 24.6 years. Two patients had a previous history of chemotherapy and 1 had a history of renal failure. Mean size of the tumor was 6.9 cm. Thirteen cases were > or = pT3 stage. Twelve cases were N+ or M+. Mean follow-up was 29.5 months. Three patients presented metastases and 5 have died. Mixed papillary and nested patterns with clear and/or eosinophilic cells represented the most consistent histologic appearance, with common foci of calcifications regardless of the type of translocation. Using a 30 mn incubation at room temperature, TFE3 immunostainings were positive in only 82% of our TFE3 translocation carcinomas. Both TFE3 and TFEB renal translocation carcinomas expressed CD10 and alpha-methylacyl-coenzyme A racemase in all cases. An expression of E-cadherin was observed in two-third of cases. Cytokeratins were expressed in less than one-third of cases. Melanocytic markers were expressed at least weakly in all cases except two. Unsupervised clustering on the basis of the gene expression profiling indicated a distinct subgroup of tumors. TRIM 63 glutathione S-transferase A1 and alanyl aminopeptidase are the main differentially expressed genes for this group of tumors. Our results suggest that these differentially expressed genes may serve as novel diagnostic or prognostic markers.
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PMID:Renal translocation carcinomas: clinicopathologic, immunohistochemical, and gene expression profiling analysis of 31 cases with a review of the literature. 1834 67

The uterus and retroperitoneum have emerged as the most frequently reported anatomic sites of origin of perivascular epithelioid cell tumors (PEComas), a poorly defined neoplasm that is characterized by varying amounts of spindle and epithelioid cells with clear to eosinophilic cytoplasm that display immunoreactivity for melanocytic markers, most frequently HMB-45. Published reports on 41 previously reported uterine PEComas are reviewed in this report. Of these 41 cases, 31 originating in the corpus and for which there was adequate follow-up information (or clinical malignancy) were categorized into 2 groups: (1) a malignant group that was comprised of cases associated with patient death of disease and/or clinical malignancy as evidenced by local and/or distant extension outside of the uterus (n=13, group 1) and (2) a "nonmalignant" group of cases in which neither of the above features were present (n=18, group 2). Groups 1 and 2 did not significantly differ regarding duration of follow-up (25 mo vs. 24.3 mo, respectively, P=0.9) or patient age (45.61 y vs. 43.46 y, respectively, P=0.7). Five of the group 1 patients experienced distant (extra-abdominal) metastases. The group 1 tumors were significantly larger than the group 2 tumors (averages 9.6 cm vs. 4.67 cm respectively, P=0.04); however, there were no size thresholds that, in of themselves, reliably classified 75% or more of the cases in both groups. Coagulative necrosis was highly associated with group 1, being present in 82% of cases as compared with only 11.8% of group 2 cases (P=0.0002). Eighty-eight percent of the group 2 cases had a mitotic rate of <or=1/10 high power fields (HPF) as compared with 40% of group 1 cases (P=0.01). However, the absence of mitotic activity did not rule out malignancy, as 2 of the group 1 cases lacked mitotic activity and displayed metastases. Twenty-five percent, 49%, 56%, 73%, and 100% of tested cases displayed immunoreactivity for CD10, desmin, vimentin, smooth muscle actin, and caldesmon, respectively. PEComas are tumors of uncertain histogenesis and malignant potential that seem to display some morphologic and immunophenotypic overlap with smooth muscle neoplasia. A mitotic count of >1/10 HPF and/or coagulative necrosis are features that, if present, raise the definite potential for aggressive behavior.
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PMID:Perivascular epithelioid cell tumor (PEComa) of the uterus: an outcome-based clinicopathologic analysis of 41 reported cases. 1841 88

An 8-year-old, male, mongrel dog developed severe cough and anorexia and died within 3 months. Autopsy revealed an invasive grayish-white mass in the right kidney and multiple nodules in the lungs, thoracic wall, and spleen. Histologically, the renal mass and the other nodules were mainly composed of papillotubular structures lined by oval-to-polygonal pleomorphic cells. The cells were reactive with DBA, PNA, and UEA-1 lectins and positive for vimentin but negative for CD10 and high molecular weight cytokeratin. Because of its histological, histochemical, and immunohistochemical similarities with human collecting duct carcinoma (CDC), a diagnosis of renal collecting duct carcinoma with pulmonary, thoracic, and splenic metastases was established. To our knowledge, this is the first case report of CDC in animals.
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PMID:Renal collecting duct carcinoma in a dog. 1858 95

Mullerian adenosarcomas are rare mixed tumors of low malignant potential that occur mainly in the uterus and also in extrauterine locations. Microscopically, they may be difficult to distinguish from adenofibromas. In this clinicopathologic study of 55 adenosarcomas, the mean patient age was 50 years (range: 13 to 83 y). Thirty-seven tumors were of the uterine corpus, 11 of the cervix, 4 of the ovary, and 1 each of the fallopian tube, vagina, and Douglas peritoneum. Abdominal pain and vaginal bleeding were the usual complaints. Treatment was known in 50 patients: 10 had polypectomy, 1 cone biopsy, and 39 hysterectomy, which was accompanied by bilateral salpingo-oophorectomy in 24 and lymphadenectomy in 4. Five patients had radiotherapy and 2 of them had chemotherapy. Stage was known in 41 cases. Of 30 tumors of the uterine corpus, 17 were stage IA, 11 stage IB, 1 stage IC, and 1 stage IIIC. Four cervical tumors were stage IB. Three of the 4 ovarian tumors were stage IA and the other was stage IIIC. The tumor of the fallopian tube was stage IC, and the tumors of the vagina and recto-uterine pouch were confined to their site of origin. Most uterine tumors were polypoid masses ranging from 1 to 20 cm (mean: 6.5 cm). Microscopically, sarcomatous overgrowth was found in 18 cases (33%), heterologous elements in 13 (24%), and sex cordlike differentiation in 7 (13%). Fourteen of 30 uterine tumors (47%) had myometrial invasion that was minimal in 5, involved one-third of the myometrial thickness in 7, and more than 50% in 2. Of 4 cervical tumors, 2 were endocervical polyps, 1 invaded one-third of the cervical wall, and the other invaded its full thickness. Follow-up information (2 mo to 18 y; average: 7.5 y) was available in 29 patients. Six developed metastases and 5 of them died of tumor. Four had adenosarcomas with sarcomatous overgrowth; however, the other 2 patients had typical low-grade adenosarcomas of the uterine corpus and cervix, respectively, exhibiting only mild nuclear atypia of the stromal component and </=2 mitotic figures/10 high power fields. Both were initially underdiagnosed as adenofibromas. The finding of such cases, which raises the controversy of whether or not adenofibroma exists as a tumor entity, prompted us to make a comparative immunohistochemical analysis of 23 typical adenosarcomas, 8 adenosarcomas with sarcomatous overgrowth, and 29 benign and malignant related lesions, including 7 clinically benign adenofibromas. Adenosarcomas with sarcomatous overgrowth showed strong immunoreaction for Ki-67 and p53 and loss of CD10 and progesterone receptors immunostaining; in contrast, the immunoreaction for these tumor markers in typical adenosarcomas without sarcomatous overgrowth was similar to that of adenofibromas associated with favorable outcome and other benign lesions such as endometrial polyps and endometriosis. These findings suggest that some of the tumors currently classified as adenofibromas, on the basis of their low mitotic count and lack of significant nuclear atypia, are, in fact, well-differentiated adenosarcomas.
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PMID:Mullerian adenosarcoma: a clinicopathologic and immunohistochemical study of 55 cases challenging the existence of adenofibroma. 1894 2

We describe 2 cases of malignant melanotic epithelioid renal neoplasms bearing TFE3 gene fusions. Both neoplasms occurred in children (an 11-y-old boy and a 12-y-old girl), and presented with disseminated metastatic disease including mediastinal and mesenteric adenopathy. Both neoplasms featured sheets of epithelioid cells with clear to finely granular eosinophilic cytoplasm set in a branching capillary vasculature. The neoplastic cells contained variable amounts of finely brown pigment confirmed to be melanin by histochemical stains. By immunohistochemistry, the neoplastic cells labeled for melanocytic markers HMB45 and Melan A, but not for S100 protein, MiTF, or any epithelial marker (cytokeratins, epithelial membrane antigen), renal tubular marker (CD10, PAX8, PAX2, RCC Marker) or muscle marker (actin, desmin). Both neoplasms demonstrated nuclear labeling for TFE3 protein by immunohistochemistry, and the presence of TFE3 gene fusions was confirmed by TFE3 fluorescence in situ hybridization analysis. These distinctive neoplasms combine morphologic features of perivascular epithelioid cell neoplasms (PEComas), Xp11 translocation carcinoma, and melanoma, though the phenotype most closely approaches PEComa. These neoplasms represent the first documented examples in which TFE3 gene fusions coexist with melanin production, and their identification raises the possibility that TFE3 gene fusions may underlie an aggressive subset of lesions currently classified as PEComa in young patients.
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PMID:Melanotic Xp11 translocation renal cancers: a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma. 1906 1

SP is an undecapeptide that belongs to the family of related neurokinins termed tachykinins. SP is one of the mediators responsible for the neural-immune/hematopoietic cross-talk. It is released from the nerve fibers of the autonomic and enteric nervous systems in lymphoid organs and is also produced by the resident, stromal or hematopoietic cells. SP stimulates the production of hematopoietic cytokines (e.g. IL-1, IL-3, IL-6, SCF, GM-CSF) by bone marrow stromal cells. It enhances the proliferation of bone marrow progenitors, both directly by binding to progenitor's receptors and indirectly by interacting with marrow stromal cells. SP can also modulate immune and hematopoietic functions like phagocytosis, immunoglobulin production, lymphocyte proliferation and platelet aggregation. SP fragments derived from endopeptidase activity could also exert immune and hematopoietic regulation. The biological effects of SP are mediated through interactions with certain G protein-coupled receptors: the neurokinin (NK) receptors. Different studies have shown that NK receptors are localized on immuno-competent cells, including monocytes/macrophages, neutrophils, mast cells, dendritic cells and T or B lymphocytes, bone marrow stromal cells and hematopoietic progenitors. The disturbance of the neural-hematopoietic-immune axis may be implicated in hematological malignancies. SP seems to be important in the neoplastic transformation of bone marrow, leading to the development of acute leukaemia in children; myelofibrosis and also metastases to bone marrow of solid tumors in early stages of these diseases.
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PMID:[Substance P as a regulatory peptide of hematopoiesis and blood cell functions]. 1925 69

Phyllodes tumor is an uncommon biphasic breast tumor, with the ability to recur and metastasize, and it behaves biologically like a stromal neoplasm. Traditionally, phyllodes tumors are graded by the use of a set of histologic data into benign, borderline, and malignant. In most series, all phyllodes tumors may recur, but only the borderline and malignant phyllodes tumors metastasize. On the basis of histologic features, prediction of behavior is difficult. The expression of many biological markers, including p53, hormone receptors, proliferation markers, angiogenesis group of markers, c-kit, CD10 and epidermal growth factor receptor have been explored, and many have been shown to be variably expressed, depending on the grade of the tumor. These markers are, however, of limited value in predicting the behavior of the tumor. Recently investigators have reported a plethora of genetic changes in phyllodes tumors, the most consistent of which seems to be 1q gain by comparative genomic hybridization. Some candidate genes have been mapped to various sites, and preliminary data suggest that some of these changes may be related to recurrence. It is foreseeable that more exciting data will be generated to help us to understand the etiology and pathogenesis of phyllodes tumor.
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PMID:Phyllodes tumor of the breast: an update. 1943 72


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