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

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• 作者：Willeke A. M. Blokx (1)
  Katrin Rabold (1)
  H. Jorn Bovenschen (2)
  Marjolijn J. L. Ligtenberg (1) (3)
  Arjen R. Mensenkamp (3)
  Gesina van Lijnschoten (4)
  Wendy A. G. van Zelst-Stams (3)
  Patricia J. T. A. Groenen (1) (3)
  
  1. Department of Pathology ; Radboud University Medical Center ; P.O. Box 9101 ; Nijmegen ; The Netherlands
  2. Department of Dermatology ; M谩xima Medical Center ; Eindhoven/Veldhoven ; The Netherlands
  3. Department of Human Genetics ; Radboud University Medical Center ; Nijmegen ; The Netherlands
  4. Department of Pathology ; Stichting PAMM ; Eindhoven ; The Netherlands
  
• 关键词：BAP1 ; NRAS ; MBAIT ; Melanocytic tumor ; Skin
• 刊名：Virchows Archiv
• 出版年：2015
• 出版时间：January 2015
• 年：2015
• 卷：466
• 期：1
• 页码：117-121
• 全文大小：1,108 KB
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  2. Sarin KY et al (2013) Activating HRAS mutation in agminated Spitz nevi arising in a nevus spilus. JAMA Dermatol 149(9):1077鈥?081 4745" target="_blank" title="It opens in new window">CrossRef
  3. van Engen-van Grunsven AC et al (2010) HRAS-mutated Spitz tumors: a subtype of Spitz tumors with distinct features. Am J Surg Pathol 34(10):1436鈥?441 49" target="_blank" title="It opens in new window">CrossRef
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  5. Wiesner T et al (2011) Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 43(10):1018鈥?021 CrossRef
  6. Busam KJ et al (2013) Combined BRAF(V600E)-positive melanocytic lesions with large epithelioid cells lacking BAP1 expression and conventional nevomelanocytes. Am J Surg Pathol 37(2):193鈥?99 48c" target="_blank" title="It opens in new window">CrossRef
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  11. van Engen-van Grunsven AC et al. (2014) Whole Genome Copy Number Analysis Identifies New Leads for Chromosomal Aberrations Involved in the Oncogenesis and Metastastic Behavior of Uveal Melanomas. Melanoma Research. Manuscript submitted for publication
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  13. Field MG, Harbour JW (2014) Recent developments in prognostic and predictive testing in uveal melanoma. Curr Opin Ophthalmol 25(3):234鈥?39 CrossRef
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  15. Matatall KA et al (2013) BAP1 deficiency causes loss of melanocytic cell identity in uveal melanoma. BMC Cancer 13:371 471-2407-13-371" target="_blank" title="It opens in new window">CrossRef
  16. Carbone M et al (2012) BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. J Transl Med 10:179 479-5876-10-179" target="_blank" title="It opens in new window">CrossRef
  17. Busam KJ, Wanna M, Wiesner T (2013) Multiple epithelioid spitz nevi or tumors with loss of bap1 expression: a clue to a hereditary tumor syndrome. JAMA Dermatol 149(3):335鈥?39 CrossRef
  18. Pouryazdanparast P et al (2011) Melanocytic nevi with an atypical epithelioid cell component: clinical, histopathologic, and fluorescence in situ hybridization findings. Am J Surg Pathol 35(9):1405鈥?412 CrossRef
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• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Pathology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-2307

文摘

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.