title: Detection of MYCN Amplification in Serum DNA Using Conventional Polymerase Chain Reaction.
abstract: Neuroblastoma (NB) is the most common extra-cranial solid tumor of childhood and is characterized by a wide range of clinical behaviors. Amplification of MYCN is a well-known poor prognostic factor in NB patients. As the MYCN amplification status is usually tested using tumor specimens, lengthy and invasive procedures are unavoidable. To evaluate the possibility of detecting MYCN amplification without invasive procedure, we performed conventional polymerase chain reaction (PCR) analysis to identify MYCN amplification using the preserved serum DNA. PCR of serum DNA was done in 105 NB patients whose MYCN status had been confirmed by fluorescence in situ hybridization. MYCN amplification was evaluated as the ratio of signal intensities between MYCN and NAGK (M/N ratio). When regarding the tissue FISH results as a reference, 10 patients had MYCN-amplified (MNA) NB, and 95 had non-MNA NB. The M/N ratio of the MNA group (median 2.56, range 1.01-3.58) was significantly higher than that of the non-MNA group (median 0.97, range 0.67-5.18) (P < 0.001). In the receiver operating characteristic curve analysis, the area under the curve was 0.957 (95% confidence interval 0.898-1.000; P < 0.001), and it showed 90.9% sensitivity and 97.9% specificity with the selected cut-off value set as 1.6. The detection of MYCN amplification using conventional PCR analysis of serum samples seems to be a simple and promising method to evaluate the MYCN status of NB patients. Further study with a larger set of patients is needed to confirm the accuracy of this result.
authors: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors: Youngeun
authors: http://orcid.org/0000-0002-5862-6319
authors: Y
authors: Ma
authors: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors: Ji Won
authors: http://orcid.org/0000-0003-0084-1304
authors: JW
authors: Lee
authors: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors: Soo Jin
authors: http://orcid.org/0000-0002-6921-1418
authors: SJ
authors: Park
authors: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors: Eun Sang
authors: http://orcid.org/0000-0001-8214-2106
authors: ES
authors: Yi
authors: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors: Young Bae
authors: http://orcid.org/0000-0001-7016-8827
authors: YB
authors: Choi
authors: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors: Keon Hee
authors: http://orcid.org/0000-0002-5980-7912
authors: KH
authors: Yoo
authors: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. kwsped@skku.edu.
authors: Ki Woong
authors: http://orcid.org/0000-0001-5989-4772
authors: KW
authors: Sung
authors: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors: Hong Hoe
authors: http://orcid.org/0000-0001-8082-1412
authors: HH
authors: Koo
mesh_terms: D000293:Adolescent; D019540:Area Under Curve; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000097:blood* / Q000302:isolation & purification / Q000378:metabolism; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D000071447:N-Myc Proto-Oncogene Protein / Q000235:genetics* / Q000378:metabolism; D009367:Neoplasm Staging; D009447:Neuroblastoma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics / Q000378:metabolism; D016133:Polymerase Chain Reaction; D012372:ROC Curve; D012680:Sensitivity and Specificity; D055815:Young Adult
chemical_list: C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D004247:DNA; D017853:Phosphotransferases (Alcohol Group Acceptor); C018716:N-acetylglucosamine kinase
keywords: MYCN Amplification; Neuroblastoma; Polymerase Chain Reaction; Serum DNA