GTF2I mutation in micronodular thymoma with lymphoid stroma

Aims: Micronodular thymoma with lymphoid stroma is a rare subtype of thymoma with characteristic clinical and pathological features. Some of the features, such as indolent nature, principally spindle morphology and no significant association to myasthenia gravis, are shared with type A and AB thymoma, which is closely linked to GTF2I mutation. However, not much is known regarding the molecular genetics of this thymoma subtype. In this study, the GTF2I mutation status was investigated in 16 cases of micronodular thymoma.

Methods: 16 micronodular thymomas were retrieved and the GTF2I mutation was tested by Sanger sequencing. The clinicopathological findings were documented.

Results: GTF2I c.1271T>A p.(Leu424His) mutation within exon 15 was detected in 14 out of 16 tumours (87.5%). Two patients died of other causes while all others remained alive with no evidence of recurrence during the follow-up period ranging from 19 to 188 months (median: 100 months).

Conclusions: GTF2I mutation status and presence of spindle cell morphology may indicate that type A and AB thymoma, and micronodular thymoma represent a group biologically distinct from type B thymomas, which generally lack this mutation.