Multiple desmoplastic Spitz nevi with BRAF fusions in a patient with ring chromosome 7 syndrome. (17th March 2021)

• Record Type: Journal Article
• Authors: Roy, Simon F.; Bastian, Boris C.; Maguiness, Sheilagh; Giubellino, Alessio; Vemula, Swapna S.; McCalmont, Timothy H.; Yeh, Iwei
• Is Part Of: Pigment cell & melanoma research. Volume 34:Number 5(2021)
• Page Start: 987
• Page End: 993
• Publication Date: 2021-03-17
• Subjects: BRAF fusion -- BRAF gene -- ring chromosome 7 -- ring chromosome seven -- melanocytic nevi -- melanocytic nevus -- Spitz nevus -- Spitz tumor -- spitzoid; Melanoma -- Periodicals; Chromatophores -- Periodicals; Animal pigments -- Periodicals; 616.99477
• DOI: 10.1111/pcmr.12963
• Languages: English
• ISSNs: 1755-1471

Abstract

Abstract: 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.