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.