Correspondence: Recurrent ECSIT mutation encoding V140A triggers hyperinflammation and promotes hemophagocytic syndrome in extranodal NK/T cell lymphoma

Recurrent somatic mutation in the ECSIT gene encoding p.V140A was reported in 19.3% (17/88) extranodal natural-killer/T cell lymphoma (ENKTL) and was associated with hemophagocytic syndrome (HPS). However, another cohort of similar geographical descent also had the ECSIT V140A mutation as germline in 20.0% (5/25) of ENKTL and none were somatic. The reanalysis of published data revealed that the reported somatic ECSIT V140A could be germline as well. First-digit analysis on the IDs of sequencing read also found irregularity among the data that initially reported the somatic ECSIT V140A mutation. As such, this study questions the only somatic genetic link of HPS in ENKTL and also introduces a simple well-known algorithm to detect data irregularity in voluminous genomic sequencing data.