Canadian College of Medical Geneticists Guidelines for the Indications, Analysis, and Reporting of Cancer Specimens

Dawson, Angelika J.; McGowan‐Jordan, Jean; Chernos, Judy; Xu, Jie; Lavoie, Josée; Wang, J.-C.; Steinraths, Michelle; Shetty, Susheel

doi:10.3747/co.v18i5.775

Cited by 8 publications

(9 citation statements)

References 5 publications

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“…Chromosomes X, 21, and 22 have been reported to be susceptible to whole chromosome errors [46][47][48]. Chromosomes 2, 6, 7, 11, 14, 15, 16, and 20 are known to be associated with UPD [49,50]. Recent findings showed that chromosome length had a positive correlation with the mitotic error of each chromosome, but a negative correlation with the meiotic error of the preimplantation embryo [47,51].…”

Section: Specific Chromosomes Involvedmentioning

confidence: 99%

Preimplantation genetic testing for aneuploidy: The management of mosaic embryos

Kim

Park

et al. 2022

Clin Exp Reprod Med

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As the resolution and accuracy of diagnostic techniques for preimplantation genetic testing for aneuploidy (PGT-A) are improving, more mosaic embryos are being identified. Several studies have provided evidence that mosaic embryos have reproductive potential for implantation and healthy live birth. Notably, mosaic embryos with less than 50% aneuploidy have yielded a live birth rate similar to euploid embryos. This concept has led to a major shift in current PGT-A practice, but further evidence and theoretically relevant data are required. Proper guidelines for selecting mosaic embryos suitable for transfer will reduce the number of discarded embryos and increase the chances of successful embryo transfer. We present an updated review of clinical outcomes and practice recommendations for the transfer of mosaic embryos using PGT-A.

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Section: Specific Chromosomes Involvedmentioning

confidence: 99%

Preimplantation genetic testing for aneuploidy: The management of mosaic embryos

Kim

Park

et al. 2022

Clin Exp Reprod Med

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“…Routine PCR based assays can be rapid, but a priori knowledge of the fusion breakpoints is required and when fusions involve large intronic regions RNA input are generally needed. Thus, turn-around times for these methods can take three days to two weeks [13, 14]. To capitalize on the potential of precision medicine, faster analysis of sequencing data is needed to improve the potential of molecular-assisted cancer diagnoses [15].…”

Section: Main Textmentioning

confidence: 99%

mentioning

confidence: 99%

A graphical, interactive and GPU-enabled workflow to process long-read sequencing data

Reddy

Hung

Sala‐Torra

et al. 2021

Preprint

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We present a graphical cloud-enabled workflow for fast, interactive analysis of nanopore sequencing data using GPUs. Users customize parameters, monitor execution and visualize results through an accessible graphical interface. To facilitate reproducible deployment, we use Docker containers and provide an Amazon Machine Image (AMI) with all software and drivers pre-installed for GPU computing on the cloud. We observe a 34x speedup and a 109x reduction in costs for the rate-limiting basecalling step in the analysis of blood cancer cell line data. The graphical interface and greatly simplified deployment facilitate the adoption of GPUs for rapid, cost-effective analysis of long-read sequencing.

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“…Some of the other factors that impact the culture growth, include; hypocellularity, low proliferative rate in tissue culture, insufficient number of metaphases, less viability of cells, disease and the treatment induced cytotoxicity [ 7 ]. The failure rate for bone marrow and neoplastic blood specimen cultures should not exceed 10% [ 4 ]…”

Section: Introductionmentioning

confidence: 99%

Cytogenetic culture failure and its causes in hematological disorders; a single centre perspective

et al. 2023

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Objective To highlight the reasons of culture failure in bone marrow aspirate samples sent for Cytogenetic analysis and to identify the associated parameters causing this impact. Methodology This is a retrospective cross-sectional study conducted in the Clinical and Molecular Cytogenetics Laboratory of NIBD Hospital, Karachi, Pakistan. The rates of culture failure are assessed from the year 2017–2020 along with their reasons. Bone Marrow aspirate samples of patients with hematological malignancies were cultured for chromosomal analysis, both at the time of diagnosis or relapse. Statistical analysis was performed using SPSS version 25. Results A total of 1061 bone marrow aspirate samples were assessed for cytogenetic culture failures from the duration of 2017 to 2020. Ratio of males was predominantly higher i.e. 62.7% than female 37.3% with Mean ± SD age was 36.78 ± 18.94. Frequency of culture failure in the year 2020 was relatively high 20% as compared to the preceding years i.e. 8% in 2017, 6% in 2018, 7% in 2019. However, the patients were diagnosed with the following hematological malignancies; ALL 23%, CML 17.1%, AML 16.5% and AA 12.5%. Among the reasons of culture failure, cytogenetic analysis of patients with on-going chemo resulted in significant culture failures with p-value < 0.001 and the hematological malignancy, Acute Promyelocytic Leukemia, significantly impacted the growth of bone marrow aspirate cultures, with p-value < 0.001. Conclusion Significant findings were associated with causative factors of culture failure including on-going treatment and sample issues of clotted bone marrow as well as with the clinical diagnosis. These evaluations facilitated in overcoming the rise in culture failures. As per our knowledge, no such data, discussing the effects of various parameters such as sample quality, diagnosis, effects of treatment etc., has been documented previously.

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Canadian College of Medical Geneticists Guidelines for the Indications, Analysis, and Reporting of Cancer Specimens

Cited by 8 publications

References 5 publications

Preimplantation genetic testing for aneuploidy: The management of mosaic embryos

Preimplantation genetic testing for aneuploidy: The management of mosaic embryos

A graphical, interactive and GPU-enabled workflow to process long-read sequencing data

Cytogenetic culture failure and its causes in hematological disorders; a single centre perspective

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