Figure 4.
Biallelic loss of FH in two samples originally classified as HMGA1 overexpressing tumors. (A) One HMGA1 overexpressing tumor (MP169F) harbored a somatic missense variant c.955G > A, p.(Asp319Asn) in FH and a somatic substitution c.556-24T > G in intron 4 of FH. (B) The intronic variant resulted in RNA transcripts lacking exon 5. (C) Copy number analysis revealed a homozygous deletion encompassing FH in the other sample (MP164F).