Figure 1. Clinical presentation of neuroblastoma.
(a) Localized thoracic neuroblastoma. The arrow indicates tumor mass. (b) Enhanced abdominal computed tomography. The arrow indicates a large tumor in the adrenal medulla. (c), Metastatic neuroblastoma revealed by metaiodobenzylguanidine (MIBG) scintigraphy.

From: Molecular Basis and Clinical Features of Neuroblastoma

Figure 2. Summary of Noradrenergic (ADRN)-type and Mesenchymal (MES)-type neuroblastoma. (Cited and modified from van Groningen T, Koster J, Valentijn LJ, et al. Neuroblastoma is composed of two super-enhancer-associated differentiation states. Nat Genet. 2017;49(8):1261-6 (19). Copyright of the figure belongs to the authors.)
Neuroblastoma was classified into Noradrenergic (ADRN)-type and Mesenchymal (MES)-type based on the superenhancer landscape of neuroblastoma. Commonly expressed genes during the course of neural crest differentiation and genetic abnormalities for each type are shown.

From: Molecular Basis and Clinical Features of Neuroblastoma

Figure 3. Copy number changes in primary neuroblastoma cases.
Overview of copy number changes and allelic imbalances detected using a single nucleotide polymorphism array in 215 primary neuroblastoma cases. CN; copy number, UPD; uniparental disomy, LOH; loss of heterozygosity. Neuroblastoma patients were classified by the international neuroblastoma staging system (INSS).

From: Molecular Basis and Clinical Features of Neuroblastoma

Figure 4. ALK mutations detected in neuroblastoma. (Cited and modified from Mosse YP, Laudenslager M, Longo L, et al. Identification of ALK as a major familial neuroblastoma predisposition gene. Nature. 2008;455(7215):930-5 (8) and Uryu K, Nishimura R, Kataoka K, et al. Identification of the genetic and clinical characteristics of neuroblastomas using genome-wide analysis. Oncotarget. 2017;8(64):107513-29 (26). Copyright of the figure belongs to the authors.)
a. COSMIC frequencies of ALK mutations in neuroblastoma from the published literature with functional and therapeutic significance are shown. A blue circle indicates a missense mutation and a green circle indicates a silent mutation. The numbers in the circles represent the reported mutation numbers. The blue box indicates MAM domains and the pink box indicates the tyrosine kinase domain. b. Recurrent copy number (CN) gains in the 2p arm are defined by the MYCN locus on 2p24.3 and the ALK locus on 2p23, where vertical lines indicate common CN gains. High-grade amplifications are drawn in light red whereas simple gains are represented in dark red. c. Kinase activity of ALK mutants determined by invitro kinase assays using the synthetic YFF peptide as a substrate.

From: Molecular Basis and Clinical Features of Neuroblastoma

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