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:2.6.1.2 (alanine aminotransferase)
26,722 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Atypical lipomatous tumor/well-differentiated liposarcoma (ALT-WDLPS) and dedifferentiated liposarcoma (DDLPS) may be difficult to distinguish from benign adipose tumors and from poorly differentiated sarcomas, respectively. Genetically, they are characterized by amplification of MDM2 and CDK4 genes on chromosome 12q13-15. We examined a series of 559 soft tissue tumors (44 ALT-WDLPS, 61 DDLPS, 49 benign adipose tumors, and 405 non-ALT-WDLPS/DDLPS sarcomas) for MDM2 and CDK4 expression using immunohistochemistry. MDM2 and CDK4 immunoexpressions were compared with gene amplification status (as assessed by quantitative PCR and/or comparative genomic hybridization) in 241 neoplasms. Most ALT-WDLPS/DDLPS expressed MDM2 (97%) and CDK4 (92%) as opposed to few benign adipose tumors (MDM2, 5%; CDK4, 2%) and a limited number of non-ALT-WDLSP/DDLPS sarcomas (MDM2, 19%; CDK4, 6%). The sensitivity and specificity of MDM2 and CDK4 immunostainings in identifying ALT-WDLPS/DDLPS among other soft tissue tumors were 97% and 92%, and 83% and 95%, respectively. MDM2 and CDK4 immunostainings were particularly useful to separate ALT-WDLPS from the large group of differentiated adipose tumors, and to distinguish DDLPS from poorly differentiated sarcomas. A strong correlation was observed between MDM2 and CDK4 stainings and gene amplification status. In conclusion, MDM2 and CDK4 immunostainings, which correlate with gene amplification, are helpful adjuncts to differentiate ALT-WDLPS from benign adipose tumors and to separate DDLPS from poorly differentiated sarcomas.
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PMID:MDM2 and CDK4 immunostainings are useful adjuncts in diagnosing well-differentiated and dedifferentiated liposarcoma subtypes: a comparative analysis of 559 soft tissue neoplasms with genetic data. 1616 Apr 77

Atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL) and dedifferentiated liposarcoma (DDL) are reported to have murine double-minute type 2 (MDM2) and cyclin-dependent kinase 4 (CDK4) amplification as a characteristic genetic alteration. To evaluate the diagnostic utility of this gene abnormality, we analyzed 19 liposarcomas, 21 malignant fibrous histiocytomas, 3 leiomyosarcomas, 5 malignant peripheral nerve sheath tumors, 23 lipomas, and 28 nonneoplastic fat tissues using real-time polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH). In real-time PCR, all ALT/WDLs and DDLs had both MDM2 and CDK4 amplifications. The amplification levels in ALT/WDLs and DDLs were significantly higher than those in the other sarcomas, lipomas, and nonneoplastic fat tissues (P < .05); however, those in the other sarcomas and lipomas were not significantly higher than those in nonneoplastic tissues. In FISH, all ALT/WDLs and DDLs had both MDM2 and CDK4 amplifications, and all of the myxoid/round cell liposarcomas, leiomyosarcomas, malignant peripheral nerve sheath tumors, and all but one of the malignant fibrous histiocytomas did not have the amplifications. In this study, MDM2 and CDK4 amplifications were confirmed in ALT/WDLs and DDLs, and the amplification levels were significantly higher than those in the other tumors. An analysis of MDM2 and CDK4 amplification using real-time PCR, as well as FISH, is useful for the differential diagnosis of liposarcomas and their histologic mimickers.
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PMID:The value of MDM2 and CDK4 amplification levels using real-time polymerase chain reaction for the differential diagnosis of liposarcomas and their histologic mimickers. 1693 16

Parosteal adipocytic tumors of the bone are extremely rare. As a result, (cyto-) genetic data on this entity are essentially lacking. In the literature there is debate as to whether these lesions should be classified according to the criteria used in soft-tissue tumor pathology, or if they should be considered a separate bone tumor entity. Here we present a 68-year-old male patient with a tumor in his right upper leg diagnosed as parosteal atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLS) on the basis of clinico-radiologic and pathologic findings. Molecular cytogenetic investigations using combined binary ratio labeling fluorescence in situ hybridization and array comparative genomic hybridization showed abnormalities, which are in accordance with the histologic appearance of an atypical lipomatous tumor/well-differentiated liposarcoma. Therefore, on the basis of these molecular cytogenetic investigations, we conclude that parosteal liposarcoma is not a separate entity but should be categorized within the spectrum of soft-tissue ALT/WDLS.
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PMID:Does parosteal liposarcoma differ from other atypical lipomatous tumors/well-differentiated liposarcomas? A molecular cytogenetic study using combined multicolor COBRA-FISH karyotyping and array-based comparative genomic hybridization. 1765 53

Primary mesenteric liposarcoma is a rare malignant tumor of mesenchymal origin. These tumors are often found to be of substantial size upon first clinical presentation. We report a case of primary mesenteric liposarcoma in a 55 year old man who underwent laparotomy for the clinical/radiological impression of a mesenteric cyst. FNAC was inconclusive due to suboptimal cellularity. On laparotomy there were 2 masses (diameter- 19 and 14 cms) weighing approximately 8.5 kilograms together. Histopathology showed features of atypical lipomatous tumor / well differentiated liposarcoma (ALT/WDLS) with mixed histological pattern (e.g. lipoma like, sclerosing and myxoid areas) varying from area to area. Prognosis of ALT/WD liposarcoma depends upon its anatomic location and most aggressive histological subtype. This case is being presented because of its huge dimensions, rarity of the site and mixed histological pattern.
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PMID:Giant primary mesenteric liposarcoma: a rare case report. 1830 55

The aim of this study was to evaluate observer performance using T1-weighted spin-echo and fluid-sensitive MRI sequences in distinguishing between lipoma and atypical lipomatous tumour/well-differentiated liposarcoma (ALT/WDL). Magnetic resonance images of 51 patients with benign lipoma and ALT/WDL of the musculoskeletal system were reviewed. There were 33 benign lipomas and 18 ALT/WDL. The character of septa and nodularity of the fatty tumours on T1-weighted spin-echo sequences and the presence of high signal on fluid-sensitive sequences were assessed. Two independent observers took part. Observer agreement was measured. The two observers achieved sensitivities of 100 and 94% for T1-weighted images and 100% each for fluid-sensitive sequences. Specificities were 76 and 64% for T1-weighted and 70 and 73% for fluid-sensitive images. Observer agreement was very good (kappa 0.87 for T1-weighted and 0.88 for fluid-sensitive images). In distinguishing lipoma from ALT/WDL, observer performance was comparable using T1-weighted and fluid-sensitive MR sequences. High sensitivity and moderately high specificity were attained.
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PMID:Magnetic resonance imaging of lipoma and atypical lipomatous tumour/well-differentiated liposarcoma: observer performance using T1-weighted and fluid-sensitive MRI. 1837 26

Atypical lipomatous tumor or well-differentiated liposarcoma (ALT-WDLPS) and dedifferentiated liposarcoma (DDLPS) share the same basic genetic abnormality characterized by a simple genomic profile with a 12q14-15 amplification involving MDM2 gene. These tumors are the most frequent LPS. This paper reviews the molecular pathology, general clinical and imaging features, histopathology, new diagnostic tools, and prognosis of ALT-WDLPS and DDLPS.
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PMID:Well-differentiated and dedifferentiated liposarcomas. 1968 22

The spectrum of lipomatous tumors differs in the adult and pediatric populations, with liposarcoma being rare in children. Nearly 10% of individuals with Li-Fraumeni syndrome develop sarcomas in the first 2 decades of life; however, the frequency of sarcoma types and subtypes in this syndrome is unknown. Two atypical lipomatous tumors/well-differentiated liposarcomas (ALT/WDLS) were identified in the pathology files of our institution in young children from "classical" Li-Fraumeni and Li-Fraumeni variant kindreds with a known germline TP53 mutation (Y220C) in one of the families. The patients were 5 and 6 years of age and the ALT/WDLSs were the first expression of the syndrome. The tumors had a high degree of cellular atypia and differed from sporadic ALT/WDLS by strong nuclear immunoreactivity for p53 and absent mdm2 expression. This is the first report of 2 ALT/WDLSs presenting in children before 10 years of age, both in association with Li-Fraumeni syndrome/variant. ALT/WDLS in a young child should raise the possibility of a cancer predisposition syndrome and, in this setting, the p53(+)/mdm2(-) immunophenotype might be characteristic. Recognition of this lesion and its association is important for early diagnosis and subsequent tumor surveillance in the proband and affected family members.
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PMID:p53+/mdm2- atypical lipomatous tumor/well-differentiated liposarcoma in young children: an early expression of Li-Fraumeni syndrome. 2002 12

Pedicled anterolateral thigh flap has been well described for ipsilateral groin defects. Its versatility depends on the intact femoral vessels. When the external iliac and the femoral vessels are absent, especially secondary to wide surgical tumour ablations in the groin region, ipsilateral ALT flap is not an option. Free flaps also are difficult because of lack of recipient vessels. We report a case of composite groin defect following wide resection of recurrent liposarcoma along with encased vessels which was covered with a pedicled anterolateral thigh flap from the opposite thigh. The technique of lengthening the vascular pedicle and medializing the pedicle, to effectively increase its reach to the contralateral anterior superior iliac spine without vascular compromise, is described.
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PMID:Pedicled anterolateral thigh flap for contralateral groin composite defect. 2092 63

The presence of metaplastic ossification within atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLPS) is a rare occurrence. When present, bone formation is most often found in association with a dedifferentiated component arising within the primary tumor. It is important for the radiologist not only to recognize the differential diagnosis of a calcified or ossified soft tissue mass but also be aware of the various soft tissue neoplasms, both aggressive and non-aggressive, that may show such features. We report a case of ALT/WDLPS with unusual extensive metaplastic bone formation without an element of dedifferentiated liposarcoma.
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PMID:Case report: atypical lipomatous tumor with unusual extensive metaplastic ossification. 2237 5

Sarcomas are rare, heterogenous, and often difficult to classify. A large proportion of sarcomas are associated with specific molecular genetic lesions such as translocations, mutations, and amplifications, which are helpful in the diagnosis of individual cases. However, the exact impact of molecular genetics on the final diagnosis of sarcomas is unknown. In this study, all soft tissue and visceral sarcomas arising in patients living in 3 European regions in 2 countries (representing 13 million inhabitants) were collected and reviewed during 2 consecutive years. A molecular analysis was performed for all suspicions of sarcomas with specific genetic lesions [mutations of KIT/PDGFRA in gastrointestinal stromal tumors (GISTs), reciprocal translocation, or amplification of MDM2 in atypical lipomatous tumors, well-differentiated liposarcoma-dedifferentiated liposarcoma (ALT/WDLPS-DDLPS)]. To evaluate the impact of molecular tests, a premolecular analysis diagnosis was proposed with 3 categories of certainty: certain, probable, or possible. A molecular analysis was performed in 763/1484 tumors corresponding to 295 cases in which GIST was suspected, 248 sarcomas with a suspicion of translocation, and 220 cases in which ALT/WDLPS-DDLPS was suspected. Molecular analysis was found to be useful (confirms a probable diagnosis) in 11 (4%) GISTs, 62 (26%) suspicions of translocation, and 66 (31%) suspicions of ALT/WDLPS-DDLPS; and necessary (allows a possible diagnosis) in 2 (<1%) GISTs, 31 (12%) suspicions of translocation, and 19 (9%) suspicions of ALT/WDLPS-DDLPS. This study performed in an epidemiological setting demonstrates the significant impact of molecular analysis on the final sarcoma diagnosis and favors such an analysis on any tumor with a suspicion of a specific genomic abnormality and for which the diagnosis is uncertain.
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PMID:Impact of molecular analysis on the final sarcoma diagnosis: a study on 763 cases collected during a European epidemiological study. 2377 73


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