Involvement of chromosome 6 in endometrial cancer.

Cytogenetic investigation was performed on direct preparations of 15 endometrial cancers showing different histotypes. Clonal abnormalities were found in 11 out of 13 analysable cases. The modal chromosome number was near diploid in all cases. The abnormal karyotypes contained relatively simple numerical or structural aberrations in the majority of tumours. In contrast, two neoplasms with serous papillary and mixed mullerian morphological features shared multiple complex changes as well as cytogenetic evidence of intratumoral heterogeneity. The most frequent chromosome abnormality in our series of endometrial neoplasms was 6q deletion, which was detected in serous papillary, endometrioid and mixed mullerian tumours. The loss of the 6q region, which is also frequently involved in ovarian carcinoma, suggests a relationship between endometrial and ovarian cancers based on a common histogenesis

Frequent loss of heterozygosity without loss of genetic material in acute myeloid leukemia with a normal karyotype

We performed a whole-genome loss of heterozygosity (LOH) analysis of 32 cases of acute myeloid leukemia with normal karyotype using high-density single nucleotide polymorphism arrays. LOH was found in 20% of cases. We identified two types of LOH: (i) interstitial, characterized by small deletions of genomic DNA (2-8 Mb), and (ii) terminal, involving large (30-90 Mb) telomeric regions. Surprisingly, terminal LOH occurred without loss of genetic material because of deletion of large chromosome regions and their substitution through the duplication of the corresponding regions from the homologous chromosomes (acquired partial uniparental disomy). (copyright) 2005 Wiley-Liss, Inc

ROAD SAFETY PERFORMANCES FROM MICRO-SIMULATION CONSIDERING AUTONOMOUS VEHICLES OPERATIONS

Introduction of Autonomous Vehicles in road traffic will remove the impact of the human factor from the driver\u2019s decision-making process, and will transform the criteria for road network design, road infrastructure administration, traffic modeling and assessment tools for road safety management. The paper presents a microsimulation-based approach for safety performance evaluation of roundabouts where different percentages of Autonomous Vehicles are mixed with Conventional Vehicles. The simulated vehicle trajectories exported from VISSIM were used as a basis to estimate traffic conflicts through the Surrogate Safety Assessment Model (SSAM) for a sample of European roundabouts. In order to better consider the presence of Autonomous Vehicles in traffic and their kinematic, there has also been proposed a criterion to set the principal SSAM filters properly. The results confirmed that the safety assessment of any road unit may rely on surrogate safety measures and, in the absence of crash data which include information on Autonomous Vehicles, the simulated conflicts can be used as a promising approach for safety performance evaluation of roundabout

Exon structure and promoter identification of STIM1 (alias GOK), a human gene causing growth arrest of the human tumor cell lines G401 and RD

The stromal interaction molecular 1 gene (STIM1) encodes a type I trans-membrane protein of unknown function, which induces growth arrest and degeneration of the human tumor cell lines G401 and RD but not HBL100 and CaLu-6, suggesting a role in the pathogenesis of rhabdomyosarcomas and rhabdoid tumors. Here, we describe the STIM1 genomic organization including the identification of the promoter region. The gene consists of 12 exons that span a region larger than 250 kb between the genes RRM1 and NUP98. Nucleotide sequences of all exon-intron boundaries were determined and oligonucleotide primers for the amplification of individual exons were designed. The promoter region was identified within a 1.8-kb SacI fragment at the 5' end of the gene. In vitro CpG methylation of the promoter region indicated that transcription can be downregulated by this mechanism. The genetic tools developed in the present work will help to determine whether pathogenetic mechanisms that associate STIM1 with tumorigenesis involve mutations in coding sequences and/or promoter, and whether methylation could determine STIM1 transcriptional down-regulation in tumor samples

Human homeobox gene HOXC13 is the partner of NUP98 in adult acute myeloid leukemia with t(11;12)(p15;q13)

The chimeric gene NUP98/HOXC13 was detected in a patient with a de novo acute myeloid leukemia and a t(11;12)(p15; q13). Fluorescence in situ hybridization with PAC1173K1 identified the breakpoint on 11p15, indicating that the NUP98 gene was involved in the translocation. At 12q 13, the breakpoint fell within BAC 578A18, selected for the homeobox C (HOXC) cluster genes. RACE-PCR showed that HOXC13 was the partner gene of NUP98. To date, HOXC13 is the eighth homeobox gene that, as the result of a reciprocal translocation, fuses with NUP98 in myeloid malignancies

Microsatellite instability in endometrial cancer. Relation to histological subtypes

Microsatellite instability in endometrial cancer: relation to histological subtype