Original article
Glomus tumors in individuals with neurofibromatosis type 1

https://doi.org/10.1016/j.jaad.2014.01.913Get rights and content

Background

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.

Objective

We sought to evaluate the association of NF1 with glomus tumors and to compare NF1-associated glomus tumors with sporadic glomus tumors.

Methods

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.

Results

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.

Limitations

The retrospective design resulted in incomplete data capture.

Conclusions

Detection of glomus tumors should raise suspicion for a concurrent diagnosis of NF1.

Section snippets

Subjects

All individuals who underwent excision of a glomus tumor between January 1998 and January 2013 were identified after a pathology database (CO-PATH) search. Electronic records were reviewed for each individual and the presence or absence of a diagnosis of NF1 was recorded, using National Institutes of Health Consensus Development Conference criteria.12 Sex, age at the time of glomus tumor excision, and the number and location of glomus tumors were recorded. This study was performed under an

Results

A total of 42 histopathologically confirmed glomus tumors were identified in 34 individuals during the 15-year study period. Six of 34 patients (17.7%) also carried a diagnosis of NF1, none of whom were related. Twelve glomus tumors were found in the 6 individuals with NF1, representing 28.6% of the total glomus tumors in this series. One patient with NF1 had multiple glomus tumors (n = 7); another had a histopathologic diagnosis of neurofibroma and glomus tumor within the same surgical

Discussion

The findings from this study highlight several important issues.

First, glomus tumors are rare in the general population, representing less than 2% of primary hand tumors (the true incidence of glomus tumors is unknown).6 A predilection for regions exposed to temperature extremes is reflected by their predominance on the hands. Similar to previous studies, the majority involved the fingers in both sporadic and NF1-associated cases.6, 15, 16 The exact distribution of glomus tumors on the 5 digits

References (18)

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Cited by (0)

Dr Bayliss is currently conducting a study with Scioderm for epidermolysis bullosa.

Conflicts of interest: None declared.

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