Fusion-driven cutaneous and superficial mesenchymal and adnexal tumors-A clinicopathologic and molecular study of 15 cases, including a novel case of ACTB::ZMIZ2-rearranged adnexal carcinoma.

Autor: Dehner CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Anatomic Pathology and Laboratory Medicine, Indiana University, Indianapolis, Indiana, USA., Johnson EF; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Dermatology, Mayo Clinic, Rochester, Minnesota, USA., Wieland CN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Dermatology, Mayo Clinic, Rochester, Minnesota, USA., Camilleri MJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Dermatology, Mayo Clinic, Rochester, Minnesota, USA., Kajdacsy-Balla A; Department of Pathology, University of Chicago Illinois, Chicago, Illinois, USA., Oliveira AM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Halling KC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Gupta S; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Guo R; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, Florida, USA.
Jazyk: angličtina
Zdroj: Journal of cutaneous pathology [J Cutan Pathol] 2024 Jul; Vol. 51 (7), pp. 538-548. Date of Electronic Publication: 2024 Mar 31.
DOI: 10.1111/cup.14610
Abstrakt: Background: While the list of fusion-driven soft tissue neoplasms is expanding rapidly, their importance among cutaneous and superficial mesenchymal and adnexal neoplasms remains poorly understood. This challenge is especially evident in cases with ambiguous histopathology that are difficult to classify based on morphology.
Aims: Our goal was to investigate the benefits of next-generation sequencing in diagnosing complex cutaneous neoplasms.
Materials & Methods: Departmental archives were searched for fusion-driven cutaneous neoplasms. Slides were retrieved and clinical information including follow-up was obtained.
Results: Fifteen cases occurred in eight female and seven male patients, with a median age of 26 years (range: 1-83) at diagnosis. Tumors involved the extremities (9), scalp (5), and head and neck (1). Predominant features included myoepithelial (5), nested spindled with clear cytoplasm (2), atypical adnexal/squamoid (2), small round blue cell (2), cellular spindled (3), and fibrohistiocytic morphology (1). Most frequently encountered fusions involved EWSR1 (6) fused to ERG (1), FLI1 (1), CREB1 (2), CREM (1), PBX3 (1), followed by PLAG1 (4) with LIFR (2), TRPS1 (1) and CHCHD7. Additional fusions encountered were YAP1::NUTM1, EML4::ALK, SS18::SSX1 (2), and a novel fusion: ACTB::ZMIZ2. Integration of histologic features and molecular findings led to final diagnoses of primary cutaneous Ewing sarcoma (2), soft tissue myoepithelioma (4), cutaneous syncytial myoepithelioma (1), cutaneous adnexal carcinoma (1), porocarcinoma (1), inflammatory myofibroblastic tumor (1), synovial sarcoma (2), clear cell sarcoma (2), and angiomatoid fibrous histiocytoma (1).
Discussion and Conclusion: Our results show that fusion testing can be a helpful diagnostic tool, especially in cases with unusual or uncommon morphology in superficial sites. Furthermore, it can allow for the identification of potential therapeutic targets in some instances.
(© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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