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Genome-wide analysis of subependymomas shows underlying chromosomal copy number changes involving chromosomes 6, 7, 8 and 14 in a proportion of cases.

ABSTRACT: Subependymomas (SE) are slow-growing brain tumors that tend to occur within the ventricles of middle-aged and elderly adults. The World Health Organization classifies these tumors within the ependymoma group. Previous limited analysis of this tumor type had not revealed significant underlying cytogenetic abnormalities. We have used microarray comparative genomic hybridization to study a series of SE (n = 12). A whole-genome array at 0.97-Mb resolution showed copy number abnormalities in five of 12 cases (42%). Two cases (17%) showed regions of loss on chromosome 6. More detailed analysis of all cases using a chromosome 6 tile-path array confirmed the presence of overlapping regions of loss in only these two cases. One of these cases also showed trisomy chromosome 7. Monosomy of chromosome 8 was seen in a further two cases (17%), and a partial loss on chromosome 14 was observed in one additional case. This is the first array-based, genome-wide study of SE. The observation that five of 12 cases examined (42%) at 0.97-Mb resolution showed chromosomal copy number abnormalities is a novel finding in this tumor type.

SUBMITTER: Kurian KM

PROVIDER: S-EPMC2659379 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:For genetic counseling of male carriers of chromosomal translocations, the specific chromosomes and breakpoints involved in the translocation are relevant to know. The structural chromosomal abnormalities may lead to abnormal sperm counts, infertility, and miscarriage. These are related to the specific chromosomes and breakpoints involved in the translocation. To date, over 200 cases of non-Robertsonian translocation in male carriers have been described that involve chromosomes 13, 14, or 15.This study reports of 28 male carriers from our clinic with balanced reciprocal translocations of chromosome 13, 14, or 15, and a literature review of 201 cases. The 28 male carriers from our clinic were diagnosed by cytogenetic analyses: 19 subjects suffered from pregestational infertility and 9 from gestational infertility. The most common translocations were t(7;13), t(10;14), and t(3;15), observed respectively in 13 (46%), 8 (29%), and 8 (29%) of our subjects. The literature cases (n = 201) involved chromosome 13 (n = 83, 41%), chromosome 14 (n = 56, 28%) or 15 (n = 62, 31%) in which 75 breakpoints were identified, the most common breakpoint, 13q22, was observed in 12 subjects (6%), followed by 14q32 (n = 11), 15q15 (n = 9), and 15q22 (n = 9). Most breakpoints were related to gestational infertility, while breakpoints at 13p13, 13p12, 13p11.2, 13p11, 13q11, 13q15, 14p12, 14p10, 15p13, 15p10, and 15q22.2 were associated with pregestational infertility.Carriers of non-Robertsonian translocations involving chromosome 13, 14, or 15 and experiencing infertility should receive counseling with regard to chromosomal breakpoints as there seem to be consequences for treatment. Intracytoplasmic sperm injection with preimplantation genetic diagnosis (PGD) for the carriers with oligozoospermia, microscopic testicular sperm extraction or sperm from the sperm bank for the carriers with azoospermia should be considered for pregestational infertility. The carriers with gestational infertility can choose PGD or prenatal diagnosis.

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Genome-wide analysis of subependymomas shows underlying chromosomal copy number changes involving chromosomes 6, 7, 8 and 14 in a proportion of cases.

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