J Korean Med Sci.  2020 Apr;35(14):e82. 10.3346/jkms.2020.35.e82.

Clinical Significance of Segmental Chromosomal Aberrations in Patients with Neuroblastoma: First Report in Korean Population

• Lim H
• Son MH
• Hyun JK
• Cho HW
• Ju HY
• Lee JW
• Yoo KH
• Sung KW
• Koo HH

• KMID: 2509613
• DOI: http://doi.org/10.3346/jkms.2020.35.e82

Abstract

Background
This study aimed to investigate the incidence and clinical significance of segmental chromosomal aberrations (SCAs) in Korean patients with neuroblastoma.
Methods
Patients diagnosed with neuroblastoma from 2012 to 2018 were included for retrospective review. Fluorescence in situ hybridization (FISH) was used to analyze four SCAs (MYCN amplification, 1p deletion, 11q deletion, and 17q gain). Clinical characteristics at diagnosis, early tumor response (reduction in primary tumor volume and neuron-specific enolase level after the first three cycles of chemotherapy), and survival rates were compared according to SCAs.
Results
Among 173 patients with FISH results, 92 (53.2%) had at least one of the four SCAs, while 25 (14.5%) had two co-aberrations, and eight (4.6%) had three co-aberrations. SCAs detected in our study were MYCN amplification (n = 17, 9.8%), 1p deletion (n = 26, 15.2%), 11q deletion (n = 44, 25.6%), and 17q gain (n = 46, 27.1%). Patients with MYCN amplification showed a better early response but a worse survival than those without (5-year overall survival: 46.2% ± 13.1% vs. 88.6% ± 3.4%). Furthermore, 1p deletion was associated with a better early response but a worse survival; however, it was not an independent factor for survival. We could not find any prognostic significance associated with 11q deletion or 17q gain.
Conclusion
This is the first study investigating SCAs in Korean neuroblastoma patients. Prognostic significance of SCAs other than MYCN amplification was different from those reported in western countries. Further study with a larger cohort and longer follow-up is needed to confirm our findings.

Keyword

Neuroblastoma; Segmental Chromosomal Aberration; Korean

Figure

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  Fig. 1 Incidence of SCAs. (A) Proportion of co-aberration. (a) Three aberrations (n = 8, 4.6%), (b) two aberrations (n = 25, 14.5%), (c) one aberration (n = 7, 32.9%), (d) no aberration (n = 78, 45.1%), and (e) incomplete analysis (n = 5, 2.9%). (B) Incidence of SCAs according to risk group.SCA = segmental chromosomal aberration.

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  Fig. 2 Early response and final outcome in all patients. (A, B, E, F, I, J, M, and N) Reduction in tumor volume and serum NSE level after three cycles of chemotherapy compared with those at diagnosis. (C, D, G, H, K, L, O, and P) PFS and OS according to each SCA.NSE = neuron-specific enolase, SCA = segmental chromosomal aberration, PFS = progression-free survival, OS = overall survival.

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  Fig. 3 Early response and final outcome in patients with non-amplified MYCN. (A, B, E, F, I, and J) Reduction in tumor volume and serum NSE level after three cycles of chemotherapy compared with those at diagnosis. (C, D, G, H, K, and L) PFS and OS according to each SCA.NSE = neuron-specific enolase, PFS = progression-free survival, OS = overall survival, SCA = segmental chromosomal aberration.

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