F Micci

..Notable among the downregulated genes were MAL (in 2q11), KRT4 (in 12q13), and OLFM4 (in 13q14), whereas upregulated genes included SPRR2G (in 1q21.3) and S100A7A (in 1q21.3). © 2013 Wiley Periodicals, Inc...

..The other case, from the urinary bladder, showed presence of trisomy 7 by interphase-FISH performed on nuclei extracted from paraffin-embedded tissue...

..FISH analyses demonstrated no structural alteration of HMGA2 at the cytogenetic level; however, expression of the full-length gene was detected molecularly...

..The PHF1 gene encodes a protein with two zinc finger motifs whose involvement in tumorigenesis and/or tumor progression has not been reported before, but its rearrangement clearly defines a new pathogenetic subgroup of ESS...

..The findings illustrate that the phenotypic changes some WDL undergo with time may have a genomic correlate, and that a pathogenetic continuum exists between WDL and dedifferentiated, more malignant liposarcomas...

..The nonrandom occurrence of these aneuploidies in these benign tumors strongly indicates that they play a major pathogenetic role, but how trisomies and other aneuploidies contribute to tumorigenesis remains unknown...

..A detailed map of the rearrangements should provide clues to the positions of oncogenes and potential fusion genes important in ovarian carcinogenesis...

..The resulting fusion was not in frame, however, which is why we speculate that an abrogated RYK gene product rather than a chimeric protein might be the leukemogenic result...

..According to the scientific literature, less than 30 borderline ovarian tumors have been karyotyped and less than 100 analyzed for genomic imbalances by CGH...

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..Other pathogenetic possibilities could be deregulation of the neighboring NOTCH3 and/or ABHD9 genes, located distal to BRD4 in 19p13...

..The full cytogenetic characterization we present may guide future searches for the mechanism of organ-selective metastasis in this model system and, possibly, also in vivo...

..In addition, the rings and giant markers often contained interspersed sequences from several other chromosomes that did not give an equally clear impression of being nonrandomly involved...

..Nonetheless, incidence of these aberrations seems to be negligible in the majority of long-term ASC cultures, at least under the culture conditions used here...

..Both these lymphomas had involvement of the IGH gene at 14q32, and one of them also of the RHOH/TTF gene at 4p13, which encodes a new member of the RHO protein subfamily...

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..Based on the structure of the novel fusion gene detected, its transforming mechanism is thought to be the same as for other fusion genes involving EWSR1 or PBX1...

..It appears, therefore, that der(1)t(1;17)(p36;q11-21) is a common secondary aberration in NHLs with t(14;18) as the primary abnormality, accounting for about one-third of all add(1)(p36) chromosomes seen in this cytogenetic subset...

..Breakpoint clusters were seen in 11q13-23, 2q22-35, and 19q13, as well as in the centromeres and pericentromeric bands of chromosomes 3, 8, 9, 13, 14, and 22...

..Direct bisulphite sequencing analysis was used to confirm the methylation status of individual genes. The MSP results were compared with clinico- pathological features...

..Evidently, karyotypic, and hence pathogenetic, heterogeneity exists for tumors classified as endometrial stromal sarcomas based on their phenotypic features...

..In addition to chromosomal changes often found in gliomas (+7, -10, -13, and -22), the tumour cells also harboured a hitherto unknown t(3;21)(q13∼21;q21∼22)...

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..However, the available methodologies to detect such fusions all have their distinct short-comings...

..We conclude that promoter hypermethylation of EPHB2, EPHB3 and EPHB4 is not a common event in colon and ovarian cancers and therefore plays no major role in these tumors...

..0434). The patterns of recurrent aberrations were also different in the two types of neoplasms, pointing to different genetic mechanisms involved in their developments...

..These data suggest that a non-homologous end-joining repair mechanism may be involved in the generation of MLL-SEPT6 rearrangements in acute myeloid leukemia...

..Nonetheless, RT-PCR for these fusion transcripts remains a valuable diagnostic adjunct in the distinction between AFH and other soft tissue tumors or metastases that may simulate it...