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NRAS-mutated melanocytic BAP1-associated intradermal tumor (MBAIT): a case report

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Abstract

Melanocytic BAP1-associated intradermal tumors (MBAITs) are epithelioid spitzoid looking, mostly intradermally located melanocytic tumors that often have tumor-infiltrating lymphocytes and a common nevus component. They occur sporadically but also in the context of an underlying BAP1 germline mutation. Recognition of these lesions is important because they can be a marker for an underlying BAP1-associated cancer syndrome. Most cases reported in the literature thus far were found to have both a BRAF and BAP1 mutation. Here, we report an unusual case of an MBAIT lesion with a combined NRAS and BAP1 mutation. A BAP1 germline mutation was excluded. Our case is the second case reported until now with this combination of mutations in this subset of lesions. In the other reported NRAS-/BAP1-mutated MBAIT case, presence of a BAP1 germline mutation was not tested. Our case confirms that the mutational spectrum in MBAITs is broader than previously thought. Just as in the BRAF-mutated cases, it is likely that a subset might be associated with a BAP1 germline mutation. In case of suspicion of an MBAIT lesion based on histological examination, diagnostic work-up should include assessment of protein expression and/or mutation analysis of at least BRAF, NRAS, and BAP1. Work-up should not be limited to analyzing only BRAF protein expression or mutation, since NRAS-mutated MBAITs might be missed.

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Authors and Affiliations

  1. Department of Pathology, Radboud University Medical Center, P.O. Box 9101, Nijmegen, The Netherlands

    Willeke A. M. Blokx, Katrin Rabold, Marjolijn J. L. Ligtenberg & Patricia J. T. A. Groenen

  2. Department of Dermatology, Máxima Medical Center, Eindhoven/Veldhoven, The Netherlands

    H. Jorn Bovenschen

  3. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands

    Marjolijn J. L. Ligtenberg, Arjen R. Mensenkamp, Wendy A. G. van Zelst-Stams & Patricia J. T. A. Groenen

  4. Department of Pathology, Stichting PAMM, Eindhoven, The Netherlands

    Gesina van Lijnschoten

Authors
  1. Willeke A. M. Blokx
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  2. Katrin Rabold
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  3. H. Jorn Bovenschen
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  4. Marjolijn J. L. Ligtenberg
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  5. Arjen R. Mensenkamp
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  6. Gesina van Lijnschoten
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  7. Wendy A. G. van Zelst-Stams
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  8. Patricia J. T. A. Groenen
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Correspondence to Willeke A. M. Blokx.

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Blokx, W.A.M., Rabold, K., Bovenschen, H.J. et al. NRAS-mutated melanocytic BAP1-associated intradermal tumor (MBAIT): a case report. Virchows Arch 466, 117–121 (2015). https://doi.org/10.1007/s00428-014-1674-7

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  • DOI: https://doi.org/10.1007/s00428-014-1674-7

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