Recurrent GRHL fusions in a subset of sebaceoma: microscopic and molecular characterisation of eight cases.

Aims: Sebaceous neoplasms constitute a group of adnexal tumours, including sebaceous adenoma, sebaceoma and sebaceous carcinoma. Although mismatch repair deficiency may be observed, the nature of the genetic alterations contributing to the development of most of these tumours is still unknown. In the present study, we describe the clinical, microscopic, and molecular features of eight sebaceomas with GRHL gene rearrangement.

Spitz tumours and mimickers.

Since their initial description in 1948, Spitz tumours have always been a challenge in the field of dermatopathology and paediatric pathology. Advances in molecular pathology have confirmed they are associated with specific anomalies, mainly gene fusions. They display a wide range of clinical presentations and histological subtypes.

Exploring the molecular landscape of cutaneous mixed tumors characterized by TRPS1::PLAG1 gene fusion.

The histological similarities between pleomorphic adenomas (PAs) and cutaneous mixed tumors (CMTs) found in certain facial regions can create a diagnostic challenge. Molecular findings reveal common genetic profiles, particularly PLAG1 rearrangements in both PA and CMT. Although molecular distinctions have received limited attention, our observations indicate multiple cases of CMTs carrying the TRPS1::PLAG1 fusion.