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Ocular PEComas are frequently melanotic and TFE3-translocated: report of two cases including the first description of PRCC-TFE3 fusion in PEComa

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Abstract

Ocular perivascular epithelioid cell tumor (PEComa) is exceedingly rare. We reported two examples involving the choroid and subconjunctival tissue, respectively, in patients aged 17 and 20 years. Both tumors comprised packets and sheets of large polygonal cells with moderately pleomorphic nuclei and prominent nucleoli, traversed by delicate fibrovascular septa. Melanin pigmentation was present in one case. The tumors showed HMB45 and TFE3 immunoreactivity. TFE3 gene translocation was confirmed by FISH break-apart probes. RNA seq revealed PRCC-TFE3 and NONO-TFE3 fusions, with the former representing the first description of PRCC-TFE3 in PEComa. Critical reappraisal of the reported cases showed that ocular PEComa frequently affected young patents with melanin pigmentation, frequent TFE3 protein expression, and/or TFE3 gene translocation. No recurrence or metastasis was reported after complete excision despite the presence of cytologic atypia.

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Funding

This work was supported by the Science and Technology Program of Fujian Province, China (2018Y2003 and 2019L3017) for Dr. Chen G.

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Authors and Affiliations

  1. Department of Clinical Pathology, Caritas Medical Centre, Sham Shui Po, Hong Kong

    Y. Gao & W. Y. Lam

  2. Department of Pathology, Fujian Medical University Cancer Hospital and Fujian Cancer Hospital Fuzhou, Fuzhou, China

    G. Chen

  3. Department of Cellular and Anatomical Pathology, Chinese University of Hong Kong, Hong Kong, Hong Kong

    C. Chow & K. F. To

  4. Department of Ophthalmology, Caritas Medical Centre, Sham Shui Po, Hong Kong

    I. Io & E. W. N. Wong

  5. Department of Pathology, Tseung Kwan O Hospital, Tseung Kwan O, Hong Kong

    W. M. S. Tsui

  6. Department of Pathology, Queen Elizabeth Hospital, Hong Kong, China

    J. K. C. Chan & Wah Cheuk

Authors
  1. Y. Gao
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  2. G. Chen
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  3. C. Chow
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  4. I. Io
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  5. E. W. N. Wong
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  6. W. M. S. Tsui
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  7. W. Y. Lam
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  8. K. F. To
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  9. J. K. C. Chan
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  10. Wah Cheuk
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Contributions

Gao Y, Chen G, To KF, Chan JKC, Cheuk W, Tsui WMS, and Lam WY conceived the project and participated in writing. Chow C participated in molecular analysis and interpretation and writing. Io I and Wong EWN collected the data and participated in writing.

Corresponding author

Correspondence to Wah Cheuk.

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The present work is a retrospective study that fulfills the ethical requirement. Informed consent has been obtained from the patients.

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The authors declare that they have no conflict of interest.

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Gao, Y., Chen, G., Chow, C. et al. Ocular PEComas are frequently melanotic and TFE3-translocated: report of two cases including the first description of PRCC-TFE3 fusion in PEComa. Virchows Arch 478, 1025–1031 (2021). https://doi.org/10.1007/s00428-020-02890-w

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  • DOI: https://doi.org/10.1007/s00428-020-02890-w

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