Extended Data Fig. 4: Prevalence and clinical impact of TMEM30A mutation. | Nature Medicine

Extended Data Fig. 4: Prevalence and clinical impact of TMEM30A mutation.

From: TMEM30A loss-of-function mutations drive lymphomagenesis and confer therapeutically exploitable vulnerability in B-cell lymphoma

Extended Data Fig. 4

a, b, Deep targeted sequencing data of transformed FL samples with TMEM30A mutation detected at the time of diagnosis or transformation (A). The affected positions of the TMEM30A are visualized in an integrative genomic viewer. Variant allelic frequencies are visualized in the pie charts per case (B). Those data demonstrate a fraction of variants at the time of diagnosis (upper row) and transformation (lower row). The number in the pie charts represents the coverage of sequencing. FL1179 exhibited the opposite pattern (T1-positive/T2-negative), however the variant was a missense mutation supported by relatively low coverage (five reads out of 81 (VAF=6%). (c–e) Subtype analysis of survival according to TMEM30A genetic alteration. Kaplan Meier curves represent TTP (upper) and OS (bottom) according to TMEM30A mutation in ABC-DLBCL (C), in GCB-DLBCL (D) and in IPI-low/low-intermediate group (E). P values were derived from two-sided log-rank test.

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