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ACTB::ZMIZ2-rearranged adnexal carcinoma: a second case
Carina Dehner1,2, Daniel Pissaloux3,4, Brice Thamphya3,4
1Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Virchows Archiv : an International Journal of Pathology
|January 23, 2025
Summary
This study reports a second case of a rare adnexal tumor with an ACTB::ZMIZ2 fusion. This genetic finding may define a new type of adnexal carcinoma in young adults.
Area of Science:
- Dermatopathology
- Oncology
- Molecular Pathology
Background:
- A rare cutaneous adnexal neoplasm with an ACTB::ZMIZ2 fusion transcript was previously identified.
- Adnexal tumors encompass a diverse group of skin neoplasms with varying clinical and histological presentations.
Purpose of the Study:
- To report a second case of adnexal carcinoma with ACTB::ZMIZ2 fusion.
- To investigate the potential of ACTB::ZMIZ2 fusion as a defining genetic event for a rare adnexal tumor entity.
Main Methods:
- Histopathological examination of a 2.2-cm axillary mass.
- Molecular analysis to identify fusion transcripts.
- Clustering analysis to compare with previously reported cases.
Main Results:
- The tumor exhibited a large, nodular, and infiltrative growth pattern with extensive keratinization.
- An in-frame ACTB::ZMIZ2 fusion transcript was identified.
- Clustering analysis confirmed the close genetic relationship to the previously reported case.
Conclusions:
- The identification of a second case strengthens the association between ACTB::ZMIZ2 fusion and a specific adnexal tumor morphology.
- ACTB::ZMIZ2 fusion may represent a recurrent, defining genetic alteration in a rare adnexal carcinoma.
- This finding suggests the potential recognition of a novel adnexal tumor entity.
