LEGENDS
FIGURE 1. Monitoring of tumour during observation
(A-C) Serial magnetic resonance imaging Large (62 x 70 x 79 mm; 173 ml) peripherally enhancing bosselated multinodular mass in the left suprarenal fossa extending across the midline, displacing the left kidney, and encasing the left renal pedicle. The right renal pedicle is also encased but to a lesser degree. There is retroaortic extension of the mass which abuts and displaces the IVC and totally encases the superior mesenteric artery. Some presumed nodal deposits also identified.
(D) Change in tumour dimensions during 45 months of observation.
(E) Urine catecholamine (HMMA and HVA) trends during 45 months of observation.
FIGURE 2. Diagnostic testing
(A) Tumour histology (40x magnification). Small round blue cells infiltrating stromal tissue. Tumour cells show scant cytoplasm with hyperchromatic nuclei set in a delicate fibrillary neuropil without ganglionic differentiation. The mitosis-karyorrhexis was low (<2%). This is poorly differentiated neuroblastoma - age <1.5 years and low MKI (<2%) i.e. INPC favourable histology.
(B) WGS Circos plot showing whole chromosomal aberrations and absence of significant structural variants e.g. TERTrearrangement, no pathogenic small somatic or germline variants were identified.
(C) WGS mutational signature showing absence of known pathogenic signatures.
(B) SNP array of tumour showing overall triploidy with trisomies for chromosomes, 2, 5, 6, ,8, 9, 10, 12, 14,15,16 tetrasomies for chromosomes 1, 4,13 pentasomy for chromosomes 7, 17, diploidy for chromosome 11 and monosomy for chromosome 3. Upper panel log2ratio, lower panel B allele frequency (3N, +1, +4, +13, +7, +7, +17, +17, -11, -3, -3 ) i.e. 73.