Targeted Next generation sequencing for ALK gene and
other gene mutations
The amount of DNA extracted ranged from 9.9-39ng/μl. Only 2 (out of 21)
cases showed ALK gene, exon 23 missense mutations on locus
Chr2:29443697 (COSM28057), transcript NM_004304.5,
c.3520T>C, and on locus chr2: 29443695, transcript
NM_004304.5, c.3522C>G, both resulting in amino acid
change p.Phe1174Leu (F1174L) with allele frequency (AF) of 8.3% and
54% respectively. Both showed ALK protein expression. They were aged 9
and 60 months, showed poorly differentiated and undifferentiated
morphology respectively, with high Mitoses-Karyorrhexis index,MYCN amplification, unfavorable histology as per INPC and died of
disease within 1 and 17 months respectively. One case is depicted in
Fig.2.
A novel IDH1 (isocitrate dehydrogenase1) exon 4 missense
mutation in locus chr2: 209113151, transcript
NM_005896.4,c.356G>A, amino acid change p.Arg119Gln
(R119Q) was seen with 46.4% AF in an 18-month-old female with
undifferentiated morphology, MYCN amplification but no ALK
protein expression depicted in Fig.3 and is alive without disease at 16
months follow-up.