Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: 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)

Dermatofibrosarcoma protuberans (DFSP) is a low-grade sarcoma seldom seen in the vulva with only 29 cases reported. We present the clinicopathologic and immunohistochemical features of 13 such cases seen in our institution over a period of 29 years (1978 to 2007). Patient age ranged from 23 to 76 years (mean, 46 y). Twelve patients had a vulvar mass. One patient presented with a pigmented skin lesion. Tumor size ranged from 1.2 to 15 cm (median, 4 cm). Microscopically, all the cases showed typical features of DFSP. In 1 case, myxoid changes were also noted; 3 cases showed fibrosarcomatous transformation. Of interest, in 7 of our 13 cases, a variety of diagnoses, such as cellular dermatofibroma, cellular leiomyoma, neurofibroma, low-grade leiomyosarcoma, fibrosarcoma, low-grade malignant schwannoma, desmoplastic melanoma, cellular neurofibroma, and low-grade malignant peripheral nerve sheet tumor were initially considered. All 11 cases tested for CD34 were positive, whereas 7/9 cases, 8/9 cases, and 9/9 cases were positive for PDGFR-alpha, PDGFR-beta, and c-abl, respectively. All patients were initially treated with excisional biopsy, wide local excision, or radical vulvectomy. Local recurrences occurred in 7 cases. One patient also developed distant metastases. All recurrences were treated surgically; 1 patient also received chemotherapy and radiotherapy and another received imatinib (Gleevec). Follow-up data ranging from 2 to 444 months was available for all patients. Nine patients had no evidence of disease, 2 patients were alive with disease, 1 patient had died of disease, and 1 patient had died of other causes. DFSP affects women of a wide age range and has a propensity to recur locally. The frequent expression of PDGFR-alpha, PDGFR-beta, and c-abl in these cases agrees with the findings of other investigators and supports the use of imatinib (Gleevec) in cases that are recurrent or not amenable to surgery.
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PMID:Dermatofibrosarcoma protuberans of the vulva: a clinicopathologic and immunohistochemical study of 13 cases. 2013 58

Gastrointestinal stromal tumors (GISTs), leiomyomas, and leiomyosarcomas are common mesenchymal neoplasms in the gastrointestinal (GI) tract of dogs. As previously diagnosed smooth muscle tumors of the canine GI tract are increasingly reclassified as GISTs, it becomes important to identify additional criteria that may assist in the diagnosis of these neoplasms, provide prognostic information, and offer targets for therapy. Examination of cluster of differentiation (CD), molecule expression (such as KIT [CD117] and CD34) as well as gross, histologic, and immunohistochemical features (such as tumor size, tumor location, mitotic index, AgNOR, and Ki67 labeling) in human GISTs has revealed new and valuable prognostic, diagnostic, and therapeutic information. In this study, GISTs were examined for the gross, histologic, and immunohistochemical features listed above. Forty-nine cases of canine gastrointestinal mesenchymal neoplasms from the Animal Medical Center (New York, NY) were categorized as GISTs (KIT positive), leiomyosarcoma/leiomyoma (KIT negative, smooth muscle actin [SMA], and/or desmin positive), or other (KIT, SMA, and desmin negative). A proportion (55%) of canine cases previously diagnosed as smooth muscle tumors were reclassified as GISTs according to KIT immunoreactivity. Statistical correlations with survival data were not possible because of insufficient follow-up data. However, there was a significant difference between mitotic index, AgNOR, and Ki67 scores depending on the location of the tumor (small vs large intestine). This study represents the first time CD34 immunoreactivity has been demonstrated in canine GISTs.
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PMID:Canine gastrointestinal stromal tumors: immunohistochemical expression of CD34 and examination of prognostic indicators including proliferation markers Ki67 and AgNOR. 2082 46

Sarcomas represent a heterogeneous group of tumors with a complex and poorly reproducible classification. However, in the last ten years, several specific genetic alterations have been described allowing a molecular classification with: 1) sarcomas with a specific translocation which can be used as a diagnostic marker. These translocations can be demonstrated by RT-PCR or by FISH with commercially available break apart probes ; 2) sarcomas with simple genomic profile showing amplification of a few genes. Well differentiated liposarcomas, dedifferentiated liposarcomas and intimal sarcomas show a simple genomic profile characterised by MDM2 and CDK4 amplifications associated with amplification of other genes in dedifferentiated liposarcomas ; 3) sarcomas with activating mutations: about 90% of GIST show activating mutation of a receptor tyrosine kinase gene, either KIT or PDGFRA. The most frequent mutation involves exon 11 of KIT followed by exon 9 of KIT and exon 18 of PDGFRA. Demonstration of these mutations is useful for the diagnosis of CD117 negative GIST, for predicting response to imatinib and to explain secondary resistance to imatinib ; 4) sarcomas with inactivating mutations: malignant rhabdoid tumors show biallelic inactivation of INI1 gene with a lost of INI1 expression which can be demonstrated by immunohistochemistry ; 5) other sarcomas usually show a complex genomic profile characterised by numerous gains and losses of genes with a frequent loss of RB1 and alterations of P53. Leiomyosarcomas, pleomorphic rhabdomyosarcomas, pleomorphic liposarcomas, myxofibrosarcomas, poorly differentiated sarcomas (so-called MFH and fibrosarcomas) belong to this category and show no specific molecular abnormality.
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PMID:[Molecular biology of soft-tissue sarcomas]. 2108 42

Primary pancreatic leiomyosarcomas are rare lesions and not well described, yet they are the most common primary pancreatic sarcoma. English-language medical literature reports 29 cases as single cases or small series. A systematized nomenclature of medicine (SNOMED) search of Mayo Clinic surgical pathology files from 1994 to 2006 identified 22 primary pancreatic leiomyosarcomas. Nine patients with pancreatic leiomyosarcoma were diagnosed and treated at our institution (5 males and 4 females; mean age at diagnosis, 63 y; range, 39 to 87 y) are described, with a literature review. In situ hybridization for Epstein-Barr virus (EBV)-encoded RNA (EBER) was conducted in all cases to exclude EBV-associated smooth muscle tumor (EBV-SMT). Seven of the 9 patients presented with abdominal pain, weight loss, and jaundice. Seven tumors (mean, 10.7 cm; range, 1.0 to 30 cm) were located in the pancreatic head and 2 in the tail. Histologic findings of primary pancreatic leiomyosarcomas (7 spindle and 2 epithelioid) were similar to leiomyosarcomas of other sites. All tumors stained positive for smooth muscle actin and desmin and negative for KIT. No case showed EBER positivity. Pancreaticoduodenectomy was done in 4 patients; 3 patients had palliative procedures, and 2 had biopsy only. No lymph node metastasis was identified in 4 resected tumors, but liver metastases were present in 4 patients. All patients died; 5 deaths were known to be disease related (overall mean survival, 31 months; range, 5 to 98 mo). Historical cases showed similar clinicopathologic findings. These pancreatic leiomyosarcoma lesions have the same morphologic features as their counterparts of other sites. EBER testing should be conducted--especially for pediatric patients--to rule out EBV-SMT. The tumor is likely to metastasize to liver but not regional lymph nodes. Extensive surgical resection should be advocated, even when morphologic results show a low-grade lesion.
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PMID:Primary leiomyosarcoma of the pancreas: study of 9 cases and review of literature. 2110 91

Initial diagnosis of submucosal gastrointestinal stromal tumors (GISTs) is often made from material obtained by endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA). Although 95% of GISTs are positive for KIT by immunohistochemical analysis on surgical specimens, we have observed several cases of GIST that were negative for KIT on the cell block but subsequently positive on the surgical resection. DOG1 has been found to be a specific and sensitive marker for GISTs on surgical material. We compared KIT and DOG1 staining in 52 GIST cell blocks and in 44 cell blocks of other intra-abdominal spindle cell neoplasms. We found that DOG1 was the more sensitive marker, with positivity in all 52 GIST cell blocks. KIT was positive in 46 (88%) of the GIST cases, with sensitivity dependent on the FNA method. Both markers were highly specific: KIT was negative in all 44 non-GIST cases, whereas DOG1 showed weak positivity in only 1 leiomyosarcoma.
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PMID:DOG1 antibody is a highly sensitive and specific marker for gastrointestinal stromal tumors in cytology cell blocks. 2135 Jan 1

A woman in her 60's presented with a tumor of the pancreatic body. Pan-hysterectomy had been performed under a diagnosis of uterine leiomyoma 11 years previously. A sample obtained by endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) revealed the histopathological proliferation of spindle-shaped bundles of atypical cells, and immunohistochemical staining demonstrated that these cells were positive for KIT. Therefore, distal pancreatectomy was performed under a diagnosis of pancreatic gastrointestinal stromal tumor (GIST). Immunohistochemical staining of surgical specimens demonstrated that the tumor cells were positive for desmin and negative for KIT and CD34. The low-grade leiomyosarcoma in pathological specimens of the uterine myoma obtained 11 years previously histologically resembled the pathological findings of the pancreatic specimens except for atypical nuclei and mitotic cells. Therefore, the final diagnosis was extremely rare metastatic leiomyosarcoma of the pancreas. Herein, we report metastasis of uterine leiomyosarcoma to the pancreas and discuss the usefulness and limitations of EUS-FNA.
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PMID:[Metastasis of uterine leiomyosarcoma to the pancreas--usefulness and limitations of EUS-FNA]. 2164 67

Soft-tissue sarcomas are a group of malignant tumours whose clinical management is complicated by morphological heterogeneity, inadequate molecular markers and limited therapeutic options. Receptor tyrosine kinases (RTKs) have been shown to play important roles in cancer, both as therapeutic targets and as prognostic biomarkers. An initial screen of gene expression data for 48 RTKs in 148 sarcomas showed that ROR2 was expressed in a subset of leiomyosarcoma (LMS), gastrointestinal stromal tumour (GIST) and desmoid-type fibromatosis (DTF). This was further confirmed by immunohistochemistry (IHC) on 573 tissue samples from 59 sarcoma tumour types. Here we provide evidence that ROR2 expression plays a role in the invasive abilities of LMS and GIST cells in vitro. We also show that knockdown of ROR2 significantly reduces tumour mass in vivo using a xenotransplantation model of LMS. Lastly, we show that ROR2 expression, as measured by IHC, predicts poor clinical outcome in patients with LMS and GIST, although it was not independent of other clinico-pathological features in a multivariate analysis, and that ROR2 expression is maintained between primary tumours and their metastases. Together, these results show that ROR2 is a useful prognostic indicator in the clinical management of these soft-tissue sarcomas and may represent a novel therapeutic target.
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PMID:ROR2 is a novel prognostic biomarker and a potential therapeutic target in leiomyosarcoma and gastrointestinal stromal tumour. 2229 16

Gastrointestinal stromal tumors (GIST) are the most common mesenchymal neoplasm arising from the gastrointestinal tract. Workup of these lesions includes morphologic study and immunohistochemical and often molecular diagnostic analysis. Historically, these neoplasms had been included under a number of diagnostic categories including leiomyoma, leiomyosarcoma, schwannoma, and leiomyoblastoma. The lesions that were clearly sarcomatous were difficult to treat and therapeutically refractory to chemotherapeutic agents. Significant progress in our understanding of these neoplasms and our ability to successfully treat them occurred following the discovery that they were immunoreactive for KIT protein and harbored activating mutations in the KIT gene. Many are initially diagnosed by fine-needle aspiration (FNA) but workup may include mutational analysis to help direct therapy. This review outlines a practical approach to the cytologic diagnosis of GISTs and their molecular workup on small specimens obtained by FNA or core biopsy.
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PMID:Diagnosis of gastrointestinal stromal tumors from minute specimens: cytomorphology, immunohistochemistry, and molecular diagnostic findings. 2235 82

Leiomyosarcoma is rare in ileal location. We report the case of a 61 years old female patient presenting with ileal leiomyosarcoma occurring at 14 years after a uterine carcinoma treated by radiotherapy. The ileal tumor was treated by surgical resection. This tumor was peculiar by the macroscopic polypoid appearance and by expression of PDGFRA protein together with muscle differentiation proteins: smooth muscle actin, desmin and h-caldesmon. Lymph node necrotizing granuloma diagnosis on the surgical resection specimen lead to the diagnosis of tuberculosis and the patient was treated accordingly. At 3 years after the diagnosis, the patient was well, without recurrence or metastases. In conclusion, we report the case of a patient diagnosed with ileal leiomyosarcoma occurring 14 years after adjuvant radiotherapy for uterine carcinoma. Analysis of the intestinal resection specimen lead to the diagnosis of associated tuberculosis. Moreover, the leiomyosarcoma was peculiar by PDGFRA expression, feature which might be of clinical relevance since the treatment options in radioinduced tumors associated with other conditions are limited.
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PMID:Ileal leiomyosarcoma and lymph node granuloma. Relevance of a rare association. 2244 51

Inflammatory myofibroblastic tumor (IMFT) of the urinary bladder is an unusual spindle cell lesion that exhibits cytologic atypia, infiltrative growth, and mitotic activity mimicking malignant tumors, such as leiomyosarcoma, rhabdomyosarcoma, and sarcomatoid carcinoma. Recently, anaplastic lymphoma kinase (ALK) gene translocations or ALK protein expression in IMFT has been reported, especially in patients of children and young adults. This lesion has been described in numerous locations in addition to the urinary bladder. The detection of ALK protein and ALK gene rearrangements are useful in distinguishing IMFT from spindle cell malignancies in the urinary bladder.
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PMID:Inflammatory myofibroblastic tumor of the urinary bladder diagnosed by anaplastic lymphoma kinase immunostaining. 2262 12


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