Glomus tumors have recently been reported in individuals with the neurofibromatosis type 1 (NF1) cancer disposition syndrome. We compare the clinical and molecular features of these painful hamartomas in a series of sporadic and NF1-associated cases.
We sought to evaluate the association of NF1 with glomus tumors and to compare NF1-associated glomus tumors with sporadic glomus tumors.
We conducted a retrospective cohort study of all individuals with a histopathologic diagnosis of glomus tumor at a large tertiary care center from January 1998 to January 2013. Charts were reviewed for a coexisting diagnosis of NF1.
A total of 42 glomus tumors were identified in 34 individuals. Twelve (28.6%) were found in 6 patients with NF1. In 28 individuals with 30 sporadic tumors, there was no coexisting medical condition. Although multifocal tumors (16.7%) and tumor recurrence (33.3%) were more common in association with NF1, these trends did not reach statistical significance. NF1-associated glomus tumors exhibited no neurofibromin immunoreactivity, whereas their sporadic counterparts retained neurofibromin expression.
The retrospective design resulted in incomplete data capture.
Detection of glomus tumors should raise suspicion for a concurrent diagnosis of NF1.
[Show abstract][Hide abstract] ABSTRACT: Neurofibromatosis type 1 (NF1) is a disease characterized by increased tumorigenesis susceptibility, caused by mutations of the oncosuppressor gene NF1. The glomus tumor (GT) is a rare, very painful mesenchymal neoplasm, arising from the glomus body. In recent years, it has been highlighted the association between NF1 and GT. We report a case of a man aged 65 years, suffering from NF1, with intense pain at the thenar eminence of the right hand, successfully treated with the excision of the mass.
[Show abstract][Hide abstract] ABSTRACT: Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein called neurofibromin and is one of several genes that (when mutant) affect RAS-MAPK signalling, causing related diseases collectively known as RASopathies. Several RASopathies, beyond NF1, are cancer predisposition syndromes. Somatic NF1 mutations also occur in 5-10% of human sporadic cancers and may contribute to resistance to therapy. To highlight areas for investigation in RASopathies and sporadic tumours with NF1 mutations, we summarize current knowledge of NF1 disease, the NF1 gene and neurofibromin, neurofibromin signalling pathways and recent developments in NF1 therapeutics.
Nature Reviews Cancer 04/2015; 15(5). DOI:10.1038/nrc3911 · 37.40 Impact Factor
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