scholarly journals Array-based DNA-methylation profiling in sarcomas with small blue round cell histology provides valuable diagnostic information

2018 ◽  
Vol 31 (8) ◽  
pp. 1246-1256 ◽  
Author(s):  
Christian Koelsche ◽  
Wolfgang Hartmann ◽  
Daniel Schrimpf ◽  
Damian Stichel ◽  
Susanne Jabar ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Diagnostic Information ◽  
Round Cell ◽  
Dna Methylation Profiling ◽  
Methylation Profiling

scholarly journals DNA Methylation Profiling for Diagnosing Undifferentiated Sarcoma with Capicua Transcriptional Receptor (CIC) Alterations

2020 ◽  
Vol 21 (5) ◽  
pp. 1818 ◽  
Author(s):  
Evelina Miele ◽  
Rita De Vito ◽  
Andrea Ciolfi ◽  
Lucia Pedace ◽  
Ida Russo ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Soft Tissue ◽  
Abdominal Wall ◽  
Current Knowledge ◽  
Soft Tissue Sarcomas ◽  
Molecular Techniques ◽  
Round Cell ◽  
Undifferentiated Sarcoma ◽  
Dna Methylation Profiling ◽  
Methylation Profiling

Undifferentiated soft tissue sarcomas are a group of diagnostically challenging tumors in the pediatric population. Molecular techniques are instrumental for the categorization and differential diagnosis of these tumors. A subgroup of recently identified soft tissue sarcomas with undifferentiated round cell morphology was characterized by Capicua transcriptional receptor (CIC) rearrangements. Recently, an array-based DNA methylation analysis of undifferentiated tumors with small blue round cell histology was shown to provide a highly robust and reproducible approach for precisely classifying this diagnostically challenging group of tumors. We describe the case of an undifferentiated sarcoma of the abdominal wall in a 12-year-old girl. The patient presented with a voluminous mass of the abdominal wall, and multiple micro-nodules in the right lung. The tumor was unclassifiable with current immunohistochemical and molecular approaches. However, DNA methylation profiling allowed us to classify this neoplasia as small blue round cell tumor with CIC alterations. The patient was treated with neoadjuvant chemotherapy followed by complete surgical resection and adjuvant chemotherapy. After 22 months, the patient is disease-free and in good clinical condition. To put our experience in context, we conducted a literature review, analyzing current knowledge and state-of-the-art diagnosis, prognosis, and clinical management of CIC rearranged sarcomas. Our findings further support the use of DNA methylation profiling as an important tool to improve diagnosis of non-Ewing small round cell tumors.

Application of Microarrays for DNA Methylation Profiling

2008 ◽  
pp. 109-129 ◽  
Author(s):  
Axel Schumacher ◽  
Andreas Weinhäusl ◽  
Arturas Petronis
Keyword(s):  
Dna Methylation ◽  
Dna Methylation Profiling ◽  
Methylation Profiling

Forensic DNA methylation profiling from minimal traces: How low can we go?

2018 ◽  
Vol 33 ◽  
pp. 17-23 ◽  
Author(s):  
Jana Naue ◽  
Huub C.J. Hoefsloot ◽  
Ate D. Kloosterman ◽  
Pernette J. Verschure
Keyword(s):  
Dna Methylation ◽  
Forensic Dna ◽  
Dna Methylation Profiling ◽  
Methylation Profiling

scholarly journals DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

2016 ◽  
Vol 99 (3) ◽  
pp. 555-566 ◽  
Author(s):  
Ricky S. Joshi ◽  
Paras Garg ◽  
Noah Zaitlen ◽  
Tuuli Lappalainen ◽  
Corey T. Watson ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Human Genome ◽  
Uniparental Disomy ◽  
Dna Methylation Profiling ◽  
Methylation Profiling

scholarly journals Genome-wide DNA methylation profiling with MeDIP-seq using archived dried blood spots

2016 ◽  
Vol 8 (1) ◽  
Author(s):  
Nicklas H. Staunstrup ◽  
Anna Starnawska ◽  
Mette Nyegaard ◽  
Lene Christiansen ◽  
Anders L. Nielsen ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Dried Blood Spots ◽  
Blood Spots ◽  
Genome Wide ◽  
Dna Methylation Profiling ◽  
Methylation Profiling

DNA-methylation profiling during the promotion stage of mouse hepatocarcinogenesis

2008 ◽  
Vol 180 ◽  
pp. S122-S123
Author(s):  
Masaomi Kawai ◽  
Makoto Shibutani ◽  
U. Mami ◽  
Miwa Takahashi ◽  
Yasuaki Dewa ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Dna Methylation Profiling ◽  
Methylation Profiling

EPCO-17. METHYLATION ANALYSIS OF MATCHED PRIMARY AND RECURRENT IDHmt ASTROCYTOMA; AN UPDATE FROM THE GLIOMA LONGITUDINAL ANALYSIS NL (GLASS-NL) CONSORTIUM

2021 ◽  
Vol 23 (Supplement_6) ◽  
pp. vi5-vi5
Author(s):  
Wies Vallentgoed ◽  
Anneke Niers ◽  
Karin van Garderen ◽  
Martin van den Bent ◽  
Kaspar Draaisma ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Surgical Resection ◽  
Molecular Mechanisms ◽  
Relative Proportion ◽  
Low Grade ◽  
High Grade ◽  
Primary Tumors ◽  
Genome Wide ◽  
Dna Methylation Profiling ◽  
Methylation Profiling

Abstract The GLASS-NL consortium, was initiated to gain insight into the molecular mechanisms underlying glioma evolution and to identify markers of progression in IDH-mutant astrocytomas. Here, we present the first results of genome-wide DNA-methylation profiling of GLASS-NL samples. 110 adult patients were identified with an IDH-mutant astrocytoma at first diagnosis. All patients underwent a surgical resection of the tumor at least twice, separated by at least 6 months (median 40.9 months (IQR: 24.0, 64.7). In 37% and 18% of the cases, patients were treated with radiotherapy or chemotherapy respectively, before surgical resection of the recurrent tumor. DNA-methylation profiling was done on 235 samples from 103 patients (102 1st, 101 2nd, 29 3rd, and 3 4th resection). Copy number variations were also extracted from these data. Methylation classes were determined according to Capper et al. Overall survival (OS) was measured from date of first surgery. Of all primary tumors, the methylation-classifier assigned 85 (87%) to the low grade subclass and 10 (10%) to the high grade subclass. The relative proportion of high grade tumors increased ~three-fold at tumor recurrence (32/101, 32%) and even further in the second recurrence (15/29, 52%). Methylation classes were prognostic, both in primary and recurrent tumors. The overall DNA-methylation levels of recurrent samples was lower than that of primary samples. This difference is explained by the increased number of high grade samples at recurrence, since near identical DNA-methylation levels were observed in samples that remained low grade. In an unsupervised analysis, DNA-methylation data derived from primary and first recurrence samples of individual patients mostly (79%) cluster together. Recurrent samples that do not cluster with their primary tumor, form a separate group with relatively low genome-wide DNA-methylation. Our data demonstrate that methylation profiling identifies a shift towards a higher grade at tumor progression coinciding with reduced genome-wide DNA-methylation levels.

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