Multiple desmoplastic Spitz nevi with BRAF fusions in a patient with ring chromosome 7 syndrome

Simon F. Roy, Boris C. Bastian, Sheilagh Maguiness, Alessio Giubellino, Swapna S. Vemula, Timothy H. McCalmont, Iwei Yeh

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


Patients with non-supernumerary ring chromosome 7 syndrome have an increased incidence of hemangiomas, café-au-lait spots, and melanocytic nevi. The mechanism for the increased incidence of these benign neoplasms is unknown. We present the case of a 22-year-old man with ring chromosome 7 and multiple melanocytic nevi. Two nevi, one on the right ear and the other on the right knee, were biopsied and diagnosed as desmoplastic Spitz nevi. Upon targeted next-generation DNA sequencing, both harbored BRAF fusions. Copy number alterations and fluorescence in situ hybridization (FISH) for BRAF suggested that the fusions arose on the ring chromosome 7. Hence, one reason for increased numbers of nevi in patients with non-supernumerary ring chromosome 7 syndrome may be increased likelihood of BRAF fusions, due to the instability of the ring chromosome.

Original languageEnglish (US)
Pages (from-to)987-993
Number of pages7
JournalPigment Cell and Melanoma Research
Issue number5
Early online dateFeb 1 2021
StatePublished - Sep 2021

Bibliographical note

Funding Information:
This work was supported by the National Cancer Institute at the National Institutes of Health (grant number 1R35CA220481).

Publisher Copyright:
© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd


  • BRAF fusion
  • BRAF gene
  • melanocytic nevi
  • melanocytic nevus
  • ring chromosome 7
  • ring chromosome seven
  • Spitz nevus
  • Spitz tumor
  • spitzoid

PubMed: MeSH publication types

  • Case Reports
  • Research Support, N.I.H., Extramural


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