Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.7.10.1 (ERK)
 95,504 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

GG-62 is a cell line previously thought to be derived from an atypical Ewing tumor (ET). Reverse-transcriptase polymerase chain reaction revealed an in-frame fusion between the Ewing sarcoma gene ( EWS) codon 325 and the activating transcription factor 1 gene ( ATF1) codon 65 which permits the production of chimeric EWS-ATF1 oncoproteins. We also identified the genomic breakpoint resulting from a reciprocal t(12;22)(q13;q12), which is the hallmark of malignant melanoma of soft parts (MMSP). We applied Affymetrix human cancer G110 arrays to compare the gene expression patterns of GG-62 and other cell lines derived from small blue round cell tumors of childhood. Hierarchical clustering of 463 differentially expressed genes distinguished GG-62 from the ETs, as well as the neuroblastomas, and revealed a cluster of 36 upregulated genes. Several of these genes are involved in signal transduction pathways that may be critical for maintaining cell transformation; some examples are avian erythroblastic leukemia viral oncogene homolog 3 ( ERBB3), neuregulin 1 ( NRG1), fibroblast growth factor 9 ( FGF9), and fibroblast growth factor receptor-1 ( FGFR1). Furthermore, genes near the chromosome-12q13 breakpoint exhibited increased expression of GG-62 including ERBB3, NR4A1 (nuclear receptor subfamily 4, group A, member 1), cyclin-dependent kinase 2 ( CDK2), and alpha 5 integrin ( ITGA5). Altogether our findings demonstrate the MMSP derivation of GG-62 and may shed light on the mechanisms of tumorigenesis in this rare disease.
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PMID:Characterization of the malignant melanoma of soft-parts cell line GG-62 by expression analysis using DNA microarrays. 1202 21

Medullary thyroid carcinoma (MTC) is a rare disease, and most studies are either based on small numbers or multicenter studies with their inherent difficulties. Since 1995, a total of 440 patients with MTC underwent surgery in our clinic. A primary operation was performed in 188 patients (43% of 440). In 60 patients, the primary operation was performed because of a germline RET mutation ("prophylactic surgery"). Most (84%, 158/188) of the patients had pathologic calcitonin levels. Notably, MTC was found in almost 10% (3/30) of patients with normal calcitonin levels. However, all patients with lymph node metastases (LNMs) had elevated calcitonin levels. Total thyroidectomy (TTx) was performed in all patients. Lymph node dissection (LND) was performed at various extensions: one-compartment LND in 35% (66/188), three-compartment LND in 31% (58/188), and four-compartment LND in 29% (22/188). In general, lymph node dissection increased the likelihood of complications. LNM and distant metastases (DM) correlated with the extent of the primary tumor (pT category). The presence of LNM ranged from 17% (pT1 tumor) to 100% (pT4 tumor), whereas the presence of DM ranged from 0% (pT1 tumor) to 81% (pT4 tumor). Biochemical cure (normal calcitonin levels) was obtained in 72% (137/188) of patients. All 60 patients undergoing prophylactic surgery (tumor stage pT0/pT1) were biochemically cured. In contrast, only 60% (77/128) of the remaining patients were cured. The data suggest that primary surgery should be scheduled as soon as possible to treat patients at a node-negative stage. In the case of normal basal and elevated stimulated calcitonin levels, TTx and cervicocentral LND is recommended. If the basal calcitonin level is elevated, LND should include the cervicolateral compartment.
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PMID:Single center experience in primary surgery for medullary thyroid carcinoma. 1551 88

Breast cancer with cartilaginous and/or osseous metaplasia is considered a rare disease, but several cases have been reported recently. We report a case of breast cancer with cartilaginous and/or osseous metaplasia that was StageIV,(T4bN0M1b (PUL)), on the basis of the Japanese General Rules for Clinical and Pathological Recording of Breast Cancer, which responded well to chemotherapy. A 58-year-old women visited our hospital with a chief complaint of a palpable breast mass that had increased in size in March 2002. It was 20 x 15 x 14 cm and occupied the entire right breast. Chest computed tomography (CT) demonstrated multiple lung metastases. Histology of the biopsy specimens revealed a spindle-shaped cell carcinoma. It was ER(-), PgR(-), and HER2/neu Score 0. CAF was given to the patient as preoperative chemotherapy. Five cycles of treatment yielded improvement at the primary site and improvement of the metastatic lung lesions, which was judged as a partial response. Subsequently, one cycle of weekly paclitaxel 80 mg/m2 and oral administration of 5'-DFUR 800 mg/day were given. In November 2002, the patient underwent a right simple mastectomy with whole-layer skin grafting from the abdomen. The final pathological diagnosis was a rare type of breast cancer with cartilaginous and/or osseous metaplasia. Preoperative chemotherapy had caused necrosis in most of the tumor cells, and the efficacy was judged as Grade 2. From the third week postoperatively, weekly paclitaxel (80 mg/m2) was given. Six months after the operation, the multiple lung metastases were completely eliminated and new metastasis to liver or bone or local recurrence have not been observed.
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PMID:Locally advanced and metastatic breast cancer with cartilaginous and/or osseous metaplasia showing excellent response to chemotherapy. 1560 97

Some myeloproliferative disorders (MPD) result from a reciprocal translocation that involves the FGFR1 gene and a partner gene. The event creates a chimeric gene that encodes a fusion protein with constitutive FGFR1 tyrosine kinase activity. FGFR1-MPD is a rare disease, but its study may provide interesting clues on different processes such as cell signalling, oncogenesis and stem cell renewal. Some partners of FGFR1 are centrosomal proteins. The corresponding oncogenic fusion kinases are targeted to the centrosome. Constitutive phosphorylation at this site may perturbate centrosome function and the cell cycle. Direct attack at this small organelle may be an efficient way for oncogenes to alter regulation of signalling for proliferation and survival and get rid of checkpoints in cell cycle progression. The same effect might be triggered by other fusion kinases in other MPD and non-MPD malignancies.
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PMID:Myeloproliferative disorders: the centrosome connection. 1610 84

The paper is focused on guidelines of practice in inherited medullary thyroid cancer, diagnosed on the basis of DNA analysis. Identification of RET mutation implies further steps of diagnostic procedure, some of them - USG, FNAB and calcitonin level tests - are common for all types of mutation, other are related to ascertained type of mutation. In asymptomatic RET mutation carriers, prophylactic thyroidectomy is indicated. In MEN2B inherited cancer reveals its symptoms quickly and shows dynamic progress. In MEN2A/FMTC the clinical picture is diversified - in some patients the course of disease is mild, however in some other cases the progression of disease and even death occur regardless of the proper treatment. Unfortunately, there are no molecular prognostic markers in medullary thyroid carcinoma. Recent papers and also our own unpublished results show that gene expression profile, is similar in MEN2A and sporadic cancer. This group differs from MEN2B by its expression profile. In conclusion it is to be emphasized that although inherited medullary thyroid carcinoma is a rare disease, the diagnostic algorithm is well established and maximizes the chance for early diagnosis. Moreover, it needs to be stressed that DNA analysis results inform us not only about the necessity of further therapy, but also suggest different ways of proceeding in particular type of mutation.
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PMID:[Medullary thyroid carcinoma: from molecular studies to clinical decision]. 1635 Jul 33

Persistent eosinophilia was diagnosed in a 19-year-old woman with general malaise, dyspnoea attacks, coughing and episodes of angioedema and associated swallowing problems, and in a 21-year-old man with visual problems, dyspnoea, fatigue, reduced appetite, weight loss and gastrointestinal problems. Both had hypereosinophilic syndrome (a rare disease) with organ damage. In both patients, fluorescence-in-situ-hybridisation (FISH) was negative for the fusion gene FIP1L1-PDGFRA (FIPI-like-1-platelet-derived growth factor receptor alpha). The female patient's disease did not respond to either oral corticosteroids or imatinib, but did respond to hydroxycarbamide. The male patient successively received prednisone, interferon alpha and hydroxycarbamide. His eosinophilia progressed nonetheless, but responded partially to imatinib. In addition, the patient underwent an allogenic non-myeloblative stem cell transplantation from his HLA-identical sister. In patients with persistent eosinophilia accompanied by organ damage or organ dysfunction, hypereosinophilic syndrome can be diagnosed providing all secondary causes of the eosinophilia have been ruled out. Complementary investigations should include cytogenetic and clonal analysis to rule out haemopoietic malignancy. Prednisone, hydroxycarbamide, interferon alpha and the promising imatinib are all treatment options.
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PMID:[Two patients with hypereosinophilic syndrome]. 1676 84

Leiomyomatosis peritonealis disseminata (LPD) is a rare disease presenting as multiple peritoneal nodules of smooth muscle cells, mimicking peritoneal carcinomatosis. This disease usually pursues a benign course. We report one case of LPD in a 32-year-old woman, G2P1, without gynecological history. At term, she had an elective caesarean section during which several firm peritoneal nodules, ranging from 0.2 to 0.4 mm, were found. Microscopic examination showed a smooth-muscle cell proliferation with no mitosis, no atypia and no necrosis. Immunohistochemical analysis showed diffuse and strong staining for progesterone receptors and partial expression of estrogen receptors. The cells coexpressed smooth muscle actin, desmin, h-caldesmon, calretinin, WT1, and CD117 (KIT). They were weakly positive for EMA but negative for CD34. Proliferation index was low with 5% of cells being positive for MIB-1. This case of LPD proved to have an unusual immunohistochemistry profile raising the question of its real origin.
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PMID:[Leiomyomatosis peritonealis disseminata: immunohistochemical profile and origin]. 1712 52

A 47-year-old woman who had never smoked was evaluated for chest wall pain, cough and dyspnea that proved to be due to neoplastic right pleural disease with effusion. Cytological examination of the pleural fluid and histological analysis of a biopsy specimen of the pleural mass obtained during thoracoscopy were consistent with a diagnosis of small cell carcinoma. The patient was treated with two lines of chemotherapy and with octreotide, but without any clinical or radiological benefit. Since there was immunohistochemical overexpression of epidermal growth factor receptor, the patient was treated with gefitinib. Despite an initial clinical improvement she died due to disease progression. This case of a refractory pleural small cell carcinoma, which is an extremely rare disease, is the first reported in a never smoker and the first to be fully characterized for EGFR status.
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PMID:Refractory pleural small cell carcinoma in never smoker. A case report. 1870 17

Acute myelogenous leukemia (AML) with chromosomal translocation (6;9)(p23;q34) is a rare disease with poor prognosis and distinct clinical and morphologic features. t(6;9) results in a chimeric fusion gene between DEK (6p23) and CAN/NUP214 (9q34). FLT3-ITD mutation is one of the most frequent mutations in AML and correlates with poor clinical outcome. Prevalence of FLT3-ITD is as high as 70% among patients with t(6;9) AML, and patients with t(6;9) AML and FLT3-ITD mutations usually have higher white blood cell counts, higher bone marrow blasts, and significantly lower rates of complete remission. t(6;9) is most commonly associated with AML-FAB-M2 and is considered by some researchers to be a separate disease entity because of its distinct clinical and morphologic features and poor prognostic implication. Distinct morphologic features of this entity include marrow basophilia and myelodysplasia, and immunophenotypically, the blast cells are positive for CD9, CD13, CD33, and HLA-DR; are usually positive for CD45 and CD38; and may be positive for CD15, CD34, and terminal deoxynucleotidyl transferase.
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PMID:Acute myelogenous leukemia with t(6;9)(p23;q34) and marrow basophilia: an overview. 1897 25

We report an 81-year-old man who had leukemic presentation of ALK-positive anaplastic large cell lymphoma (ALCL) as an initial manifestation. He had been well after chemotherapy and irradiation for the advanced lung adenocarcinoma, but suddenly suffered from severe lactic acidosis and hypotension. The peripheral blood smear and bone marrow aspiration revealed the infiltration of atypical large cells with horseshoe-shaped or lobulated nuclei. The detection of CD30 expression and the t (2;5) (p23;q35) translocation in these cells was confirmatory of a diagnosis of common variant ALK-positive ALCL in a leukemic phase. He deteriorated rapidly and died before administration of the chemotherapy. An adequate, prompt diagnosis is necessary for this rare disease status in oncologic emergency to improve the disease management.
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PMID:A leukemic change as an initial manifestation of the common variant type of ALK-positive anaplastic large cell lymphoma in a patient with lung adenocarcinoma. 1904 61


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