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Multicenter Study
. 2021 Jun;23(6):1096-1104.
doi: 10.1007/s12094-020-02497-2. Epub 2020 Sep 18.

Distribution of segmental chromosomal alterations in neuroblastoma

A Juan Ribelles  1 , P Gargallo  2 , C Ferriol  3 , V Segura  2 , Y Yáñez  2 , B Juan  3 , A J Cañada  4 , J Font de Mora  2 , A Cañete  5 , V Castel  2
Affiliations
Multicenter Study

Distribution of segmental chromosomal alterations in neuroblastoma

A Juan Ribelles et al. Clin Transl Oncol. 2021 Jun.

Abstract

Background: Neuroblastoma (NB) is a heterogeneous tumor with extremely diverse prognosis according to clinical and genetic factors such as specific combinations of chromosomal imbalances.

Methods: Molecular karyotyping data from a national neuroblastic tumor database of 155 NB samples were analyzed and related to clinical data.

Results: Segmental chromosomal alterations (SCA) were detected in 102 NB, whereas 45 only displayed numerical alterations. Incidence of SCA was higher in stage M (92%) and MYCN amplified (MNA) NB (96%). Presence of SCA was associated with older age, especially 1q gain and 3p deletion. 96% of the deaths were observed in the SCA group and 85% of the relapsed NB contained SCA. The alteration most commonly associated with a higher number of other segmental rearrangements was 11q deletion, followed by 4p deletion. Whole-chromosome 19 gain was associated with lower stages, absence of SCA and better outcome.

Conclusions: SCA are not randomly distributed and are concentrated on recurrent chromosomes. The most frequently affected chromosomes identify prognostic factors in specific risk groups. SCA are associated with older age and MNA. We have identified a small subset of patients with better outcome that share whole-chromosome 19 numeric gain, suggesting its use as a prognostic biomarker in NB.

Keywords: 11q deletion; MYCN amplification; Molecular karyotyping; Segmental chromosomal alterations; Whole gain chromosome 19.

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References

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