Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities

Schröck, Evelin; Veldman, Timothy; Padilla‐Nash, Hesed; Ning, Yi; Spurbeck, Jack L.; Jalal, Syed M.; Shaffer, Lisa G.; Papenhausen, Peter; Kozma, Chahira; Phelan, Mary C.; Kjeldsen, Eigil; Schonberg, Stephen A.; O’Brien, Patrícia C. M.; Biesecker, Les; Manoir, Stanislas du; Ried, Thomas

doi:10.1007/s004390050626

Cited by 159 publications

(100 citation statements)

References 24 publications

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“…Karyotypic analysis of G-banded metaphases was performed according to standard procedures. Multicolor spectral karyotypic analysis (SKY™) was subsequently performed on the G-banded metaphases following hybridization with 24 fluorescently-labeled chromosome painting probes (16). Spectral classification of each chromosome was automatically performed by the imaging software and a discrete pseudo-color assigned to all pixels within a given spectrum.…”

Section: Karyotypic Analysismentioning

confidence: 99%

Reticulum Cell Sarcoma of Lymph Node with Mixed Dendritic and Fibroblastic Features

et al. 2001

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We report a case of clinically aggressive reticulum cell sarcoma with mixed follicular dendritic cell (FDC) and fibroblastic reticular cell (FRC) features. Histologically, the tumor was confined to lymph nodes occurring as a multifocal epithelioid and spindle cell proliferation with appreciable mitotic rate and numerous admixed non-neoplastic B-cells. IDCs have a primary function in antigen presentation in the interfollicular zones of the node and differentiate from Langerhans cells migrating from skin or from bone marrow-derived precursors (2). FRCs form a diffuse extrafollicular network that guides cell migration within the lymph node (7). Nodal sarcomas have been described that are postulated to arise from each of these different reticular cell populations. These include CD21-and CD35-positive FDC sarcoma (8) and S100-positive IDC sarcoma (9 -12). Recently, several groups have reported nodal sarcomas of possible FRC lineage (13-15). However, some of these tumors have been incompletely studied, with only limited antigen profiling and ultrastructural analysis. Thus, the range of features associated with FRC sarcoma is not yet clearly delineated. Here, we report the first morphologic, extended phenotypic and genotypic characterization of a case of primary lymph node sarcoma with mixed dendritic and fibroblastic features. METHODSHematoxylin and eosin-stained histologic sections from the original biopsy specimen obtained at an outside hospital were compared with the initial resection and tumor recurrence specimens, both done at our institution. Clinical information was obtained from the medical record.

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Section: Karyotypic Analysismentioning

confidence: 99%

Reticulum Cell Sarcoma of Lymph Node with Mixed Dendritic and Fibroblastic Features

et al. 2001

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“…Other studies have used the 24-colour karyotyping techniques, multiplex-FISH (M-FISH) and spectral karyotyping (SKY), to reveal hidden chromosome rearrangements. 2,3 However, the resolution of both M-FISH and SKY is limited, particularly for telomeric rearrangements. 2,4 The Multiprobe telomere assay consists essentially of 23 dual-colour hybridisations carried out on a single microscope slide.…”

Section: Introductionmentioning

confidence: 99%

Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL

et al. 2000

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There is increasing evidence that cytogenetically invisible chromosome rearrangements are an important cause of genetic disease. Clues to the chromosomal location of these rearrangements may be provided by a specific clinical diagnosis, which can then be investigated by targeted FISH or molecular studies. However, the phenotypic features of some microdeletion syndromes are difficult to recognise, particularly in infants. In addition, the presence of other chromosome aneuploidy may mask the typical clinical features. In the present study, the presence of tubers on cranial magnetic resonance imaging (

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“…Spectral karyotyping (SKY) was performed on metaphase spreads from MEFs and splenocyte cells according to the manufacturer's instructions (Applied Spectral Imaging, Carlsbad, CA) and as previously published (4,60). Metaphase cell spreads, selected for good-quality nonoverlapping chromosome spreads, were analyzed in a blinded manner with activated splenocyte samples from two different ϩ/ϩ, ϩ/Ϫ, and Ϫ/Ϫ murine strains and primary MEF samples from one of each representative genotype (including two separately generated Ϫ/Ϫ lines).…”

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confidence: 99%

Murine Pif1 Interacts with Telomerase and Is Dispensable for Telomere Function In Vivo

Snow

Mateyak

Paderova

et al. 2007

Molecular and Cellular Biology

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Pif1 is a 5 -to-3 DNA helicase critical to DNA replication and telomere length maintenance in the budding yeast Saccharomyces cerevisiae. ScPif1 is a negative regulator of telomeric repeat synthesis by telomerase, and recombinant ScPif1 promotes the dissociation of the telomerase RNA template from telomeric DNA in vitro. In order to dissect the role of mPif1 in mammals, we cloned and disrupted the mPif1 gene. In wild-type animals, mPif1 expression was detected only in embryonic and hematopoietic lineages. mPif1 ؊/؊ mice were viable at expected frequencies, displayed no visible abnormalities, and showed no reproducible alteration in telomere length in two different null backgrounds, even after several generations. Spectral karyotyping of mPif1 ؊/؊ fibroblasts and splenocytes revealed no significant change in chromosomal rearrangements. Furthermore, induction of apoptosis or DNA damage revealed no differences in cell viability compared to what was found for wild-type fibroblasts and splenocytes. Despite a novel association of mPif1 with telomerase, mPif1 did not affect the elongation activity of telomerase in vitro. Thus, in contrast to what occurs with ScPif1, murine telomere homeostasis or genetic stability does not depend on mPif1, perhaps due to fundamental differences in the regulation of telomerase and/or telomere length between mice and yeast or due to genetic redundancy with other DNA helicases.Homeostatic telomere length is achieved by a balance between the extension of the 3Ј telomeric repeats by telomerase or by homologous recombination between telomeric tracts and telomere erosion due to incomplete DNA replication or nucleolytic degradation (30). Telomerase acts to lengthen telomeres via the reverse transcription of an RNA template (encoded by TERC in mammals or TLC1 in Saccharomyces cerevisiae) by a telomerase reverse transcriptase (TERT or Est2, respectively) (30). In the absence of telomerase, telomeric repeats can also be maintained via homologous recombination (12). Excessive telomere lengthening is usually curtailed by cis-inhibitory telomere binding factors, such as Rif1 and Rap1 in S. cerevisiae and TRF1 in humans, or by the action of nucleases (30). In particular instances, telomeric tracts undergo saltatory attrition via the excision of telomeric DNA circles, thus preventing unregulated telomere lengthening (12,40,73).This equilibrium is not simply a push and pull between factors that strictly promote or oppose telomere extension. In S. cerevisiae, the trimeric protein complex composed of Cdc13, Stn1, and Ten1 plays a critical role in the protection of chromosome ends from nucleolytic degradation, and the complex serves both positive and negative roles in the access of telomerase to the telomere during late S phase (24,27,66). The Ku70/Ku80 heterodimer, while essential for nonhomologous end joining, also plays a key role both in the recruitment of telomerase to the telomere and in the protection of ends from degradation (9,25,65,74). Several DNA helicases and nucleases are also known to play ...

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Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities

Cited by 159 publications

References 24 publications

Reticulum Cell Sarcoma of Lymph Node with Mixed Dendritic and Fibroblastic Features

Reticulum Cell Sarcoma of Lymph Node with Mixed Dendritic and Fibroblastic Features

Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL

Murine Pif1 Interacts with Telomerase and Is Dispensable for Telomere Function In Vivo

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