14 research outputs found

    Transformed dermatofibrosarcoma protuberans: real time polymerase chain reaction detection of COL1A1–PDGFB fusion transcripts in sarcomatous areas

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    BACKGROUND: Recent cytogenetic studies have shown that reciprocal translocation t (17;22)(q22;q13) and a supernumerary ring chromosome derived from the translocation r(17;22) are highly characteristic of dermatofibrosarcoma protuberans (DFSP). The chromosomal rearrangements fuse the collagen type Iα1 (COL1A1) and the platelet‐derived growth factor B‐chain (PDGFB) genes. The COL1A1–PDGFB fusion transcript has been shown not only in conventional DFSP but also in a small series of DFSP with fibrosarcomatons areas (DFSP‐FS) using reverse transcriptase‐based conventional polymerase chain reaction. Nothing is known about the status of the COL1A1–PDGFB chimaeric gene in the pleomorphic areas of DFSP‐PleoSarc (formerly known as DFSP‐malignant fibrous sarcoma). AIMS: To show the COL1A1–PDGFB fusion transcript in transformed malignant fibrous histiocytoma. METHOD: A real‐time polymerase chain reaction assay for the COL1A1–PDGFB fusion transcript in a series of DFSP containing sarcoma was conducted to determine whether the chimaeric gene could be identified in both components of DFSP‐FS and DFSP‐PleoSarc. Eight cases were analysed. RESULTS: In seven cases, transcriptable RNA was detected, and in these cases, translocations were found between COL1A1 and PDGFB genes involving exons 27, 32, 34, 40 and 47 of the COL1A1 gene and exon 2 of the PDGFB gene. CONCLUSIONS: From a diagnostic aspect, this assay can be particularly useful in confirming the diagnosis of sarcomatous DFSP. On the other hand, the COL1A1–PDGFB fusion gene was shown in three cases of DFSP containing pleomorphic sarcoma, which supports the theory of the common histogenesis

    Analysis of EGFR Gene Amplification, Protein Over-expression and Tyrosine Kinase Domain Mutation in Recurrent Glioblastoma

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    Abstract Gefitinib and erlotinib are both selective EGFR tyrosine kinase inhibitors (EGFR-TKIs) that have produced responses in a small subgroup of lung cancer patients. The strongest evidence for a role of EGFR in the biology of glioblastoma stems from clinical trials in which 15–20% of recurrent glioblastoma patients experienced significant tumour regression in response to these small-molecule EGFR kinase inhibitors. We examined the protein-kinase domain of the EGFR gene, EGFR protein expression and EGFR gene amplification in 20 cases of recurrent GBMs. EGFR protein over-expression was found in 65% of cases. EGFR protein over-expression was associated with EGFR gene amplification in 35% of cases, and with high polysomy in 15% of cases. No mutations were found in the TK domain of the EGFR gene. Our results confirm that mutations in the kinase domain are absent in recurrent GBM, and this might be a preponderant factor in the lack of major clinical responses of TKIs in GBM, recent studies have suggested that responsiveness to EGFR kinase inhibitors was strongly associated with coexpression of EGFRvIII and PTEN. Further prospective validation of EGFRvIII and PTEN as predictors of the clinical response to EGFR kinase inhibitors in recurrent GBM is strongly anticipated

    An empirical analysis of the methodology of automatic imitation research in a strategic context

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    Since the discovery of the mirror neuron system, it has been proposed that the automatic tendency to copy observed actions exists in humans and that this mechanism might be responsible for a range of social behavior. A strong argument for automatic behavior can be made when actions are executed against motivation to do otherwise. Strategic games in which imitation is disadvantageous serve as ideal designs for studying the automatic nature of participants' behavior. Most recently, Belot, Crawford, and Heyes (2013) conducted an explorative study using a modified version of the Rock-Paper-Scissors game, and suggested that in the case of asynchrony in the execution of the gestures, automatic imitation can be observed early on after the opponent's presentation. In our study, we video recorded the games, which allowed us to examine the effect of delay on imitative behavior as well as the sensitivity of the previously employed analyses. The examination of the recorded images revealed that more than 80% of the data were irrelevant to the study of automatic behavior. Additional bias in the paradigm became apparent, as previously presented gestures were found to affect the behavior of the players. After noise filtering, we found no evidence of automatic imitation in either the whole filtered data set or in selected time windows based on delay length. Besides questioning the strength of the results of previous analyses, we propose several experimental and statistical modifications for further research on automatic imitation
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