Was detected around 50% in all samples, raising the possibility
Downloaded from on Maat SUNY Stony Brook NERL Consortia.īrain biopsy obtained by right Not detectedĬfDNA, cell-free circulating DNA NA, not applicable VAF, variant allele frequency.
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Including skin fibroblasts, blood lymphocytes, salivaĪnd plasma cfDNA were tested. For patient 3, due to a high VAFĭetected in the biopsy sample, a variety of samples (c.3132T>A p.Asn1044Lys) variant was presentĪt a lower level compared with the biopsy sample Variant (c.547C>T p.Arg183Cys) was detectedĪt similar levels (~5.0%) in both the biopsy andĬfDNA samples, whereas in patient 5, the PIK3CA Patients, the somatic variants were also present inĬfDNA in two patients. (NGS), which demonstrated the presence of Samples of affected tissue and paired peripheralīlood lymphocytes by next generation sequencing Undergone clinical genetic testing of paired biopsy Uniform read coverages across the 146 ampliconsįive patients (patients 4–8 in table 1) had also TheĪverage sequencing read depth was 34 906 with In these eight patients was 9.9 ng/mL plasma. To 50.6% (table 1) and a limit of detection aroundĠ.3%. Variant allele frequencies (VAFs) ranging from 1% In these eight patients, we detected somatic variants in five (patients 1, 2, 3, 5 and 6 in table 1) with
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Were analysed using Torrent Suite Software 5.10. KRAS, MAP2K1, MTOR, NRAS, PIK3CA, PIK3R2, In the following genes: AKT1, AKT2, AKT3, FGFR1, Sequencing libraries were prepared using IonĪmpliSeq HD Library Kit and a custom-designedĪmpliSeq HD panel (ThermoFisher Scientific) withġ46 amplicons that covered known hotspot variants Kit (Qiagen) and quantified using Qubit fluorometer. cfDNA wasĮxtracted using QIAamp Circulating Nucleic Acid Were collected in Streck BCT tubes and processedįor plasma isolation within 24 hours. Peripheral blood samples from patients with SOS Informed consent was obtained from the legal This study was approved by the Institutional Mosaic variants in patients with SOS, we recruitedĮight paediatric patients in the study (table 1). Spectrum.10 To investigate the feasibility of usingĬfDNA and deep sequencing to detect a panel of A recent study explored using cfDNAĪs a biomarker for PIK3CA-related overgrowth The detection of the underlying somatic mutations Mutations may also present in cfDNA, thus allowing Since SOS share many mutations with cancers, these Procedures to collect samples for genetic testing. Since cfDNA can beĬollected in minimally invasive liquid biopsies, itĮliminates the need for costly and stressful surgical
(cfDNA) enables both real-time detection of mutational biomarkers in cancer and prenatal screeningįor chromosomal disorders such as Down syndrome, Molecular testing using cell-free circulating DNA Unmet need for genetic testing in patients with SOS. Mutations in these genes will facilitate the timely Furthermore, targeted therapies are eitherĪvailable or under investigation in clinical trials for Mechanisms that result in excessive cellular proliferation. These disorders and cancer share the same molecular Somatic mutations in many other common oncogenes, including MTOR, GNAS, GNAQ, GNA11,Īre identified in various SOS.1–9 This indicates that The mutation spectrum of SOS overla ps with that Genetic testing to be performed on affected tissuesĬollected surgically. Nature of these disorders, detection of the underlying mutations has been challenging, as it requires Malformations, epidermal nevi, skeletal abnormalities, fibroadipose overgrowth, megalencephalyĪnd increased risk for cancer. Segmental overgrowth with lymphatic or vascular Malformation syndrome, Proteus syndrome, megalencephaly polymicrogyria polydactyly hydrocephalus syndrome and hemihyperplasia multiple Trenaunay syndrome, megalencephaly capillary Pathway cause multiple asymmetric overgrowthĭisorders including CLOVES syndrome, Klippel– Genes involved in regulating cell growth/cell cycle.įor example, somatic mutations in PIK3CA/AKT1 Group of disorders that are characterised by excessive tissue growth caused by mosaic variants in Somatic overgrowth syndromes (SOS) comprise a Wei Shen ,1,2 Josue Flores-Daboub,3 Dave Viskochil,3 Sarah L. Overgrowth syndromes using cell-free circulating DNA Detecting mosaic variants in patients with somatic
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