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Chromosome 6 suffers frequent and multiple aberrations in thymoma.

ABSTRACT: Thymoma is the most frequent tumor arising in human thymus. In this study, we performed a detailed mapping of deleted regions on chromosome 6 shown previously to harbor the most frequent genetic aberrations in this cancer. We analyzed 40 thymomas using 41 microsatellites. Two hundred ninety-four (23.5%) of 1253 informative genotypes showed loss of heterozygosity (LOH), only 39 (2.4%) were positive for microsatellite instability (MSI). Genetic aberrations on chromosome 6 were found in 31 of 40 cases (77.5%) in five hot spots. The most frequent LOHs (48.6%) occurred in region 6q25.2 within a 0.7-Mb interval flanked by markers D6S441 and D6S290. Another hot spot showing LOH in 32.4% of tumors was located between markers D6S442 and D6S1708 (0.4 Mb apart) on 6q25.2-25.3, just 1.1 Mb from the D6S441-D6S290 deletions. The third hot spot (30%) showing LOH appeared in region 6p21.31 including the MHC locus (markers D6S1666-D6S1560, 1 Mb apart). The fourth hot spot (26.3%) was detected on 6q14.1-14.3 (D6S1596-D6S284, 5.2 Mb apart). Some tumors (21.6%) showed LOHs within a fifth hot spot on 6q21 (D6S447-D6S1592, 0.3 Mb apart). Thus, several tumor suppressor genes on chromosome 6 seem to be involved in the pathogenesis of thymoma.

SUBMITTER: Inoue M

PROVIDER: S-EPMC1867301 | biostudies-literature | 2002 Oct

REPOSITORIES: biostudies-literature

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Chromosome 6 suffers frequent and multiple aberrations in thymoma.

Inoue Masayoshi M Marx Alexander A Zettl Andreas A Ströbel Philipp P Müller-Hermelink Hans-Konrad HK Starostik Petr P

The American journal of pathology 20021001 4

Thymoma is the most frequent tumor arising in human thymus. In this study, we performed a detailed mapping of deleted regions on chromosome 6 shown previously to harbor the most frequent genetic aberrations in this cancer. We analyzed 40 thymomas using 41 microsatellites. Two hundred ninety-four (23.5%) of 1253 informative genotypes showed loss of heterozygosity (LOH), only 39 (2.4%) were positive for microsatellite instability (MSI). Genetic aberrations on chromosome 6 were found in 31 of 40 ca ...[more]

PMID: 12368223

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Project description:BackgroundTriploid organisms have three sets of chromosomes. In Atlantic salmon, hydrostatic pressure treatment of newly fertilized eggs has been extensively used to produce triploids which are functionally sterile due to their unpaired chromosomes. These fish often perform poorly on commercial farms, sometimes without explanation. Inheritance patterns in individuals subjected to pressure treatment have not been investigated in Atlantic salmon thus far. However, work on other species suggests that this treatment can result in aberrant inheritance. We therefore studied this in Atlantic salmon by genotyping 16 polymorphic microsatellites in eyed eggs and juveniles which had been subjected to pressure-induction of triploidy. Communally reared juveniles including fish subjected to pressure-induction of triploidy and their diploid siblings were included as a control.ResultsNo diploid offspring were detected in any of the eggs or juveniles which were subjected to hydrostatic pressure; therefore, the induction of triploidy was highly successful. Aberrant inheritance was nevertheless observed in 0.9% of the eggs and 0.9% of the juveniles that had been subjected to pressure treatment. In the communally reared fish, 0.3% of the fish subjected to pressure treatment displayed aberrant inheritance, while their diploid controls displayed 0% aberrant inheritance. Inheritance errors included two eyed eggs lacking maternal DNA across all microsatellites, and, examples in both eggs and juveniles of either the maternal or paternal allele lacking in one of the microsatellites. All individuals displaying chromosome aberrations were otherwise triploid.ConclusionsThis is the first study to document aberrant inheritance in Atlantic salmon that have been subjected to pressure-induction of triploidy. Our experiments unequivocally demonstrate that even when induction of triploidy is highly successful, this treatment can cause chromosome aberrations in this species. Based upon our novel data, and earlier studies in other organisms, we hypothesize that in batches of Atlantic salmon where low to modest triploid induction rates have been reported, aberrant inheritance is likely to be higher than the rates observed here. Therefore, we tentatively suggest that this could contribute to the unexplained poor performance of triploid salmon that is occasionally reported in commercial aquaculture. These hypotheses require further investigation.

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Chromosome 6 suffers frequent and multiple aberrations in thymoma.

Publications

Chromosome 6 suffers frequent and multiple aberrations in thymoma.

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