Sporadic central giant cell granulomas of the jaws (GCGJ) are often solitary lesions,
characterized by KRAS, FGFR1, and TRPV4 somatic mutations. Multifocal lesions may occur and are associated with hyperparathyroidism
or underlying syndromes such as cherubism, which is marked by SH3BP2 mutations, and RASopathies, which are caused by mutations in the FGFR-RAS-RAF-MEK-ERK
signaling cascade. The diagnosis of multiple GCGJ can be challenging. The present
case reports a 14-year-old boy with multiple central GCGJ and no obvious syndromic
trait. Sanger sequencing-based analysis revealed wild-type sequences for SH3BP2 (exon 9), KRAS (exons 2-4), and FGFR1 (exons 9 and 10) genes. A rare TRPV4 somatic mutation (p.Val708Met) was detected in the lesion on the right side of the
mandible, whereas the other tumor and the normal oral mucosa revealed wild-type TRPV4 sequences. This report expands the spectrum of TRPV4 somatic mutations in central GCGJ.
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Article info
Publication history
Published online: October 20, 2022
Accepted:
October 16,
2022
Received in revised form:
September 24,
2022
Received:
August 4,
2022
Identification
Copyright
© 2022 Elsevier Inc. All rights reserved.
