912826

case-report2020
IJSXXX10.1177/1066896920912826International Journal of Surgical PathologyChen et al

Case Report
International Journal of Surgical Pathology

Glomus Tumor of the Colon: A Rare

1­–5
© The Author(s) 2020
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Case Report and Review of Literature sagepub.com/journals-permissions
DOI: 10.1177/1066896920912826
https://doi.org/10.1177/1066896920912826
journals.sagepub.com/home/ijs

Irene Y. Chen, MD1, Bushra G. Fazili, MD1,

and Xiaoyan Liao, MD, PhD1

Abstract
Glomus tumor is a rare mesenchymal neoplasm originating from the modified smooth muscle cells of the glomus
body. Primary colonic glomus tumor is extremely rare with only 5 cases published in the English literature. In this
article, we report the sixth case of primary colonic glomus tumor in a 50-year-old female with no significant past
medical history who presented with routine screening colonoscopy. The entire colon was endoscopically unremarkable
except an incidental 6-mm sessile polyp located in the descending colon. Biopsy showed a densely cellular neoplasm
composed of small, bland, slightly spindled to predominantly epithelioid cells with clear to eosinophilic cytoplasm
arranged in nests and sheets. The tumor cells were interspersed with slit-like thin-walled vessels and scattered short
nerve bundles. Immunohistochemically, the tumor cells were positive for smooth muscle actin, h-caldesmon, and CD34
(focal), but completely negative for HMB45, S100, EMA, desmin, DOG-1, and CD117. The histologic features and
immunohistochemical profile supported a diagnosis of primary colonic glomus tumor. The patient was asymptomatic
and disease free after the procedure.

Keywords
glomus tumor, colon, endoscopy, immunohistochemistry, mutation

Background and utilizing immunostains for proper diagnosis. A brief

Glomus tumor is a rare mesenchymal neoplasm repre-
senting <2% of all the soft tissue tumors. The compre-
hensive symptomatology and histology were first
described by Barré and Masson in 1924.1 The tumor is
composed of 3 components: glomus cells, modified
smooth muscle cells, and blood vessels, resembling nor-
mal perivascular glomus body that regulates temperature
via arteriovenous shunting of blood. Depending on the
proportion of each component, glomus tumor can be fur-
ther subcategorized into solid glomus tumor, glomangi-
oma, and glomangiomyoma.2 It is most commonly found
in the subungual region of the distal extremities, with a
female predilection and age of onset at 30 years.3 The
classical triad of symptoms include intermittent excruci-
ating pain, localized tenderness, and temperature hyper-
sensitivity. Extradigital manifestations are rare, mostly
involving the liver and gastrointestinal (GI) tract, par-
ticularly the stomach.4 The colon is an extremely rare
site for glomus tumor, with only 5 cases been reported so
far in the literature.4-8 Herein, we describe a sixth case of
primary colonic glomus tumor to recapitulate the impor-
tance of recognizing this rare benign entity in GI tract
review of all 6 colonic glomus tumors is performed to
summarize its clinicopathologic features.
Case Summary
A healthy 50-year-old Indian-American female with no
significant past medical history presented to a gastroen-
terologist for her first routine screening colonoscopy.
She had no complains and was asymptomatic prior to
arrival. During the procedure, she was found to have a
6-mm sessile polyp in the descending colon (Figure 1).
The polyp was removed with cold snare and sent to
pathology for histologic analysis (Figure 2). Hematoxylin
and eosin–stained sections of the polyp revealed hyper-
cellular tissue fragments consisting of small, uniform,
1
University of Rochester Medical Center, Rochester, NY, USA
Corresponding Author:
Xiaoyan Liao, Department of Pathology and Laboratory Medicine,
University of Rochester Medical Center, 601 Elmwood Avenue, Box
626, Rochester, NY 14642, USA.
Email: Xiaoyan_liao@urmc.rochester.edu
2 International Journal of Surgical Pathology 00(0)
Figure 1. Endoscopic image of a polyp (6 mm) in the
descending colon.
slightly spindled but predominantly round to polygonal
cells with clear to eosinophilic cytoplasm, centrally
located nuclei, and indistinct cell borders. The cells were
arranged in sheets and nests, interspersed with slit-like
capillary-sized blood vessels, and short nerve bundles.
No significant nuclear atypia or pleomorphism is identi-
fied. Among the tumor cells, only 2 mitotic figures were
noted and none of them appeared atypical.
Based on the histomorphology, a preliminary diagnosis
of benign mesenchymal neoplasm was considered with a
list of differential diagnosis including epithelioid nerve
sheath tumor, epithelioid leiomyoma, GI stromal tumor
(GIST), and glomus tumor. Immunohistochemical studies
were performed with satisfactory controls and showed that
the tumor cells were diffusely positive for smooth muscle
actin, h-caldesmon (patchy), and CD34 (focal; Figure
2D-F), but negative for HMB45, S100, EMA, desmin,
DOG-1, and CD117. Ki-67 mitotic index labeled ~2% of
the tumor cells (data not shown). The overall findings are
consistent with a benign glomus tumor, with solid growth
pattern.
The patient remained asymptomatic after the proce-
dure. She was doing well with no evidence of recurrence
or metastatic disease during 3-month follow-up.
Discussion
Glomus tumor is a rare mesenchymal neoplasm arising
from the modified smooth muscle cells around the
Sucquet-Hoyer canal of the glomus body. It is com-
monly found in the subungual region of the extremities
and often appears small, red-blue, solitary, and painful.
GI tract glomus tumor is rare compared with its
peripheral counterpart, with the stomach being the most
common visceral organs involved by this tumor. The
first case of primary colonic glomus tumor was pub-
lished in 1988 by Barua describing an incidental glomus
tumor found in the adventitia of a colon resected for
colonic adenocarcinoma.5 Since then, only 4 additional
cases were reported.4,6-8 The clinical and histopatho-
logic features of those cases, including the current one,
are summarized in Table 1. As seen, for all 6 cases, the
median age was 45 (range = 34-74) years. The tumor
occurred in both males and females with no apparent
sex predilection. The size of tumor ranged from <1.0
cm to 7.0 cm. Depending on the tumor size, patients
were either asymptomatic or presented with nonspecific
symptoms, such as abdominal pain, nausea, vomiting,
or GI bleed. They were frequently an incidental finding
on imaging studies or by colonoscopy. Rarely the tumor
was too big (7.0 cm) and obstructing, causing symp-
toms. Histologically, most tumor cells were described
as regular and cuboidal with distinct cell borders.
Mitoses varied from rare to high (15 per 50 high-power
field). One tumor demonstrated transmural growth
extending to paracolic fat with vascular invasion.7
However, follow-up revealed a benign clinical course
and no recurrence or distant metastasis has been
reported.
The World Health Organization classification of glo-
mus tumor applies to both soft tissue tumor and digestive
system, with 3 categories being proposed: benign, uncer-
tain malignant potential, and malignant.9 The diagnostic
criteria are primarily based on a large series of 52 cases,
where tumor size, location, atypical mitotic figures,
mitosis count, and nuclear grade were systematically
evaluated and correlated with prognosis.10 With a deep
location and size of >2 cm, plus any atypical mitotic fig-
ures and/or high nuclear grade, metastasis was observed
in 38% of tumors fulfilling the criteria of malignancy.
The category of uncertain malignant potential is reserved
for those that do not fulfill all malignant criteria but show
at least one atypical features.10 Although high mitotic
activity and nuclear atypia were associated with risk of
metastasis in most cases, the malignant potential of the
glomus tumors are not always predictable, as a tumor
with low mitotic rate (1 per 50 high-power field) and
mild nuclear atypia was found to metastasize to the liver
and the patient died of disease at 50 months after sur-
gery.4 Of note, vascular invasion is not a prognostically
adverse feature or diagnostic criteria for malignancy.9
The diagnosis of the primary colonic glomus tumor
relies on histology and immunohistochemical profile,
similar to its soft tissue counterparts. Among the 3 his-
tologic variants (solid, glomangioma, and glomangio-
myoma),2 the solid glomus tumor can mimic other
Chen et al 3

Figure 2. Histology and immunoprofile. (A) The tumor is solid and hypercellular with a small fragment of colonic muscularis
mucosae attached (magnification: 100×). (B) The tumor cells are slightly spindled, irregularly dispersed, with indistinct cell
borders. Scattered slit-like blood vessel rimed by a layer of hyperchromatic tumor cells is a characteristic feature (black
arrows; magnification: 200×). (C) Another field showing round nuclei with rare intranuclear pseudo-inclusions and scattered
short nerve bundles (red arrows) resembling a nerve sheath tumor. A rare mitotic figure (arrowhead) is present. A slightly
dilated vessel surrounded by hyperchromatic tumor cells can be seen at the left upper field (black arrow; magnification: 400×).
Immunohistochemistry shows tumor cells to be positive for SMA (strong and diffuse, D), h-caldesmon (patchy, E), and CD34
(focal, F). Arrows indicate tumor cells surrounding the vascular spaces (magnification: 200×).

mesenchymal tumors and pose great diagnostic chal-
lenges. Immunoprofiling is critical in this situation.
Since GIST is the most common mesenchymal tumor in
the GI tract, it should always be considered in differen-
tial diagnosis. However, GIST is typically positive for
DOG-1 and CD117, while glomus tumor is negative for
both. Epithelioid leiomyoma can resemble glomus
tumor given diffuse positivity for smooth muscle actin;
however, strong desmin expression in this tumor is a
key. Epithelioid nerve sheath tumors are morphologi-
cally very similar to glomus tumor; however, those
tumors are typically strongly positive for S100 and/or
CD34.11 Neuroendocrine tumor is another differential
diagnosis, which are positive for cytokeratin and neuro-
endocrine markers such as synaptophysin and chromo-
granin. Yet a potential pitfall to keep in mind is that
some glomus tumor, including a primary colonic glo-
mus tumor, can stain positive for synaptophysin.8
The pathogenesis of glomus tumors is still not clear.
Multiple familial glomus tumors occur due to inactivating
mutations in the glomulin gene. The most common muta-
tion encountered is 157delAAGAA, which is seen in
48.8% of the affected families.12 In contrast, sporadic
glomus tumors are most likely associated with NOTCH
family gene rearrangements or BRAF mutations. In 2013,
Mosquera et al described NOTCH gene rearrangements in
~60% of benign and malignant glomus tumors, with
NOTCH2-MIR143 fusion being the most common find-
ings.13 Chakrapani et al detected a small rate (10.7%) of
BRAF V600E mutation in patients with sporadic glomus
tumor.14 Interestingly, another study found that 6% of glo-
mus tumors harbored BRAF V600E mutation and all of
which were previously classified as malignant glomus
tumor or with uncertain malignant potential, suggesting
that this mutation may be associated with malignant poten-
tial, and likely a target for future treatment.15 Unlike GIST,
GI tract glomus tumors are negative for CD117 and harbor
no mutation in c-kit gene.4
In summary, we present a rare case of primary colonic
glomus tumor, adding to literature a total of 6 cases identi-
fied in this location. Although primary colonic glomus
tumor is rare, it should be included in the differential diag-
nosis when dealing with mesenchymal tumors of the GI
tract. Future studies focusing on the pathogenesis may
necessitate understanding its malignant potential and long-
term clinical behavior.
4
Table 1. Clinicopathologic Features of 6 Primary Colonic Glomus Tumors.
Clinical
presentations/
Case # (Year) Age/Sex Symptoms Procedure Tumor Location Tumor Size (cm) Gross Configuration Mitosis Immunohistochemistry Outcome
5
1 (1988) 60/unknown Recurrent Tumor Adventitia of 0.8 Well circumscribed N/A N/A N/A
adenocarcinoma resection colon
of rectum
2 (2002)4 34/female Appendicitis-like Resection Cecum 7.0 Intramural hemorrhagic 1/50 hpf N/A N/A
symptoms mass
3 (2005)6 40/male Rectal bleeding Polypectomy Colon <1 Diminutive polyp N/A +: Vimentin and SMA Disease free
−: Desmin, keratins, S100 at 1 year
4 (2007)7 37/male Chronic abdominal Partial Submucosa of 3.0 Flat and indurated, sited No +: Vimentin and SMA N/A
pain colectomy ascending colon on the posterior wall significant −: S100, desmin, CD117,
mitotic CD34, keratins,
activity chromogranin,
synaptophysin, and
CD56
5 (2015)8 74/male Acute abdominal Partial Splenic flexure 2.2 Exophytic, subepithelial, 19/50 hpf; +: Vimentin, SMA, Disease free
pain and vomiting; colectomy intramural mass lesion Ki67: 15% muscle-specific acin, at 6 months
incidental finding to 20% synaptophysin, and
of a colonic mass caldesmon (focal)
on imaging −: S100, CD34, DOG1,
CD117, chromogranin,
desmin, HMB45, and
others
6 (current case) 50/female Asymptomatic Polypectomy Descending colon 0.6 Sessile polyp 2/50 hpf; +: SMA, h-caldesmon, Disease free
Ki67: 2% CD34 (focal) at 3 months
−: HMB45, S100, EMA,
desmin, DOG-1, and
CD117

Abbreviations: hpf, high-power field; N/A, not applicable or unknown.

Chen et al
Declaration of Conflicting Interests
The author(s) declared no potential conflicts of interest with
respect to the research, authorship, and/or publication of this
article.
Funding
The author(s) received no financial support for the research,
authorship, and/or publication of this article.
Ethical Approval
Not applicable, because this article does not contain any studies
with human or animal subjects.
Informed Consent
Not applicable, because this article does not contain any studies
with human or animal subjects.
Trial Registration
Not applicable, because this article does not contain any clinical
trials.
ORCID iD
Xiaoyan Liao https://orcid.org/0000-0002-5052-0632
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