scholarly journals Neuroblastoma with flat genomic profile: a question of representativity?

2018 ◽  
pp. bcr-2018-225568
Author(s):  
Anders Valind ◽  
Ingrid Öra ◽  
Fredrik Mertens ◽  
David Gisselsson
Keyword(s):  
Single Nucleotide Polymorphism Array ◽  
Reference Sample ◽  
Genetic Alterations ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide Variants ◽  
Array Analysis ◽  
Allelic Profile ◽  
Single Nucleotide ◽  
Whole Exome ◽  
Genome Copy Number

Neuroblastoma is one of the most common paediatric malignancies. Detection of somatic genetic alterations in this tumour is instrumental for its risk stratification and treatment. On the other hand, an absence of detected chromosomal imbalances in neuroblastoma biopsies is difficult to interpret because it is unclear whether this situation truly reflects the tumour genome or if it is due to suboptimal sampling. We here present a neuroblastoma in the left adrenal of a newborn. The tumour was subjected to single-nucleotide polymorphism array analysis of five tumour regions with >80% tumour cells in histological mirror sections. This revealed no aberrations compared with a normal reference sample from the patient. Whole exome sequencing identified two single-nucleotide variants present in most tumour regions, corroborating that the tumour resulted from monoclonal expansion. Our data provide proof-of-principle that rare cases of neuroblastoma can have a normal whole genome copy number and allelic profile.

Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome

2013 ◽  
Vol 100 (1) ◽  
pp. 81-87 ◽  
Author(s):  
Anne Frühmesser ◽  
Peter H. Vogt ◽  
Jutta Zimmer ◽  
Martina Witsch-Baumgartner ◽  
Christine Fauth ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Single Nucleotide Polymorphism Array ◽  
Nucleotide Polymorphism ◽  
Array Analysis ◽  
Single Nucleotide

Single nucleotide polymorphism array analysis to predict clinical outcome in neuroblastoma patients

2006 ◽  
Vol 41 (12) ◽  
pp. 2032-2036 ◽  
Author(s):  
Eiso Hiyama ◽  
Hiroaki Yamaoka ◽  
Arata Kamimatsuse ◽  
Yoshiyuki Onitake ◽  
Keiko Hiyama ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Clinical Outcome ◽  
Single Nucleotide Polymorphism Array ◽  
Nucleotide Polymorphism ◽  
Array Analysis ◽  
Single Nucleotide

scholarly journals Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses

2021 ◽  
Vol 12 ◽  
Author(s):  
Meiying Cai ◽  
Xianguo Fu ◽  
Liangpu Xu ◽  
Na Lin ◽  
Hailong Huang
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Prenatal Diagnosis ◽  
Copy Number ◽  
De Novo ◽  
Single Nucleotide Polymorphism Array ◽  
Copy Number Variant ◽  
Prenatal Ultrasound ◽  
Nucleotide Polymorphism ◽  
Array Analysis ◽  
Single Nucleotide

Smith-Magenis syndrome and Potocki-Lupski syndrome are rare autosomal dominant diseases. Although clinical phenotypes of adults and children have been reported, fetal ultrasonic phenotypes are rarely reported. A retrospective analysis of 6,200 pregnant women who received invasive prenatal diagnosis at Fujian Provincial Maternal and Child Health Hospital between October 2016 and January 2021 was performed. Amniotic fluid or umbilical cord blood was extracted for karyotyping and single nucleotide polymorphism array analysis. Single nucleotide polymorphism array analysis revealed six fetuses with copy number variant changes in the 17p11.2 region. Among them, one had a copy number variant microdeletion in the 17p11.2 region, which was pathogenically analyzed and diagnosed as Smith-Magenis syndrome. Five fetuses had copy number variant microduplications in the 17p11.2 region, which were pathogenically analyzed and diagnosed as Potocki-Lupski syndrome. The prenatal ultrasound phenotypes of the six fetuses were varied. The parents of two fetuses with Potocki-Lupski syndrome refused verification. Smith-Magenis syndrome in one fetus and Potocki-Lupski in another were confirmed as de novo. Potocki-Lupski syndrome in two fetuses was confirmed to be from maternal inheritance. The prenatal ultrasound phenotypes of Smith-Magenis syndrome and Potocki-Lupski syndrome in fetuses vary; single nucleotide polymorphism array analysis is a powerful diagnostic tool for these diseases. The ultrasonic phenotypes of these cases may enrich the clinical database.

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