American Journal of Otolaryngology –Head and Neck Medicine and Surgery 26 (2005) 214 – 217

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Multifocal adult rhabdomyoma: a case report and literature review

Benjamin D. Liess, MDa, Robert P. Zitsch III, MDa,*, Robert Lane, MDa, John T. Bickel, MDb
a
Department of Otolaryngology –Head and Neck Surgery, University of Missouri Health Sciences Center, MA312,
Columbia, MO 65212, USA
b
Department of Pathology and Anatomical Sciences, University of Missouri School of Medicine, Columbia, MO 65212, USA
Received 13 August 2004

Abstract Adult extracardiac rhabdomyoma is an uncommon primary tumor of striated muscle origin that
almost exclusively presents in the head and neck region. The occurrence of multifocality is a rare
manifestation of this unusual lesion. In this study, we report a rare case of multifocal adult
extracardiac rhabdomyoma in a patient presenting with an asymptomatic neck mass and provide a
brief review of the literature on this entity.
D 2005 Elsevier Inc. All rights reserved.

1. Introduction producing symptoms. Although usually solitary, some

Adult-type extracardiac rhabdomyoma is an uncommon
benign tumor of striated muscle. Of the fewer than 100 cases
reported, only 13 are multifocal, with only one of these
involving both the submandibular region and larynx [1].
Rhabdomyomas may be classified into 1 of 2 types: the
common cardiac type and the rare extracardiac form.
Cardiac rhabdomyoma most commonly originates from
striated muscle of the myocardium. Because of its frequent
association with tuberous sclerosis, this class is believed to
be a hamartomatous lesion [2]. In contrast, extracardiac
rhabdomyomas are predominantly reported as true neo-
plasms. Among extracardiac rhabdomyomas, there is further
delineation into morphologically and clinically distinct
subtypes: (1) the adult type, presenting most often as a
slow growing mass in the head and neck region primarily in
adults; (2) the fetal type, which occurs in the head and neck
region of young children and uncommonly affects adults;
and (3) the genital type, which commonly presents as a
polyploid tumor in the vulvar and vaginal regions of young
or middle-aged women [3].
Adult extracardiac rhabdomyoma is most often found in
the head and neck region arising from the larynx, pharynx,
oral cavity, and submandibular triangle [2]. Because of a
slow rate of growth, they often become quite large before
* Corresponding author. Tel.: +1 573 882 8173; fax: +1 573 884 4205.
E-mail address: ZitschR@health.missouri.edu (R.P. Zitsch).
0196-0709/$ – see front matter D 2005 Elsevier Inc. All rights reserved.
doi:10.1016/j.amjoto.2004.11.014
authors report tumor multifocality. Because adult extrac-
ardiac rhabdomyomas are rare and account for less than 2%
of striated muscle tumors [3], they have been confused with
granular cell tumors, fetal rhabdomyoma, and hibernoma.
The case described herein is one of a patient who noted
an asymptomatic neck mass that ultimately proved to be
multifocal adult-type rhabdomyoma.
2. Case report
A 69-year-old white man presented in September 2003
with an 8-week history of an asymptomatic neck mass first
noticed by the patient while shaving. His past medical
history was significant for bilateral chronic otitis media,
bilateral sensorineural hearing loss, and lung problems
related to childhood polio. Physical examination revealed a
2  2-cm mobile, firm, nontender right-sided neck mass
directly inferior to the submandibular gland. Flexible
laryngoscopy demonstrated fullness near the right base of the
epiglottis. Computed tomographic scan revealed 2 significant
findings: a 2.8  2.7-cm right epiglottic mass, which extended
to the lateral margin of the hyoid bone, and a 3-cm soft tissue
mass originating from the inferior margin of the enlarged
hyperdense right submandibular gland extending to the
superior margin of the hyoid bone (see Fig. 1). No connection
between the masses was evident. Hematologic examination
was normal and chest x-ray demonstrated chronic lung dis-
ease. The patient underwent surgical excision of both of these
 B.D. Liess et al. / American Journal of Otolaryngology –Head and Neck Medicine and Surgery 26 (2005) 214 – 217
Fig. 1. Computed tomography.
masses, and the histopathologic evaluation of both demon-
strated adult-type rhabdomyoma.
3. Histopathology
On gross examination, both tumors were similar. Each
was well demarcated, soft, and coarsely lobulated. The right
epiglottic tumor was 2  1.5 cm. The right submandibular
tumor was 3.6  3.4 cm (Fig. 2). Cut sections of both
tumors were smooth, tan to pink, and without hemorrhage
or necrosis.
Microscopically, both tumors showed closely packed
large polygonal cells with peripherally placed pyknotic
nuclei, as in normal skeletal muscle cells (Fig. 3). There was
no nuclear atypia or mitotic activity. Most cells had
abundant granular eosinophilic cytoplasm, with numerous
cells showing cross striations (Fig. 3, inset). Interestingly, no
longitudinal sections of tumor cells were seen, such as
Fig. 2. Cross-section of right submandibular gland (left) with adjacent well-
demarcated, lobulated, tan-red adult rhabdomyoma (right). Color variation
due to fixation effect can be seen on the outer rim of the tumor.
215
Fig. 3. Low-power view of adult rhabdomyoma: closely packed eosino-
philic polygonal cells with a few cells having peripheral clear vacuoles
(spider cells). Inset, High-power view of tumor cells showing the cross-
striations readily found within the tumors (hematoxylin-eosin).
would be expected with normal skeletal muscle. No
invasion of the adjacent submandibular gland was present.
4. Discussion
Extracardiac rhabdomyomas are very rare tumors com-
prising less than 2% of the neoplasms of striated muscle
origin [3]. This entity was first described in 1897 by Pendl
[4]. Because of their rarity, case reports comprise most of
the literature. In our review of the fewer than 100 reported
cases, only 13 instances of multifocal rhabdomyomas were
found. We encountered 3 recognized clinically distinct
subtypes of rhabdomyomas: adult, fetal, and genital.
The adult-type rhabdomyoma is a slow growing mass
usually limited to the head and neck region. Frequent sites
of involvement are the larynx, pharynx, and floor of the
mouth [5]. Rarely, this tumor involves the stomach [2],
mediastinum [6], prostate [7], and heart [8]. The average
age of diagnosis is 55 years, with reports ranging from 8 to
85 years. This tumor predominantly affects men, without
racial preference [3,9]. Adult-type rhabdomyoma is usually
a solitary mass; however, multifocal lesions have been
reported in the head and neck region (Table 1) [1,10].
Adult-type rhabdomyoma tumors typically present with
symptoms related to its location in the aeordigestive tract.
These include airway obstruction, dysphagia, hoarseness,
odynophagia, Eustachian tube dysfunction, and aspiration.
Such symptoms may be present in an individual from
2 weeks to 10 years [1,5].
There is some debate regarding the true nature of
extracardiac rhabdomyomas based upon differences in
histological observations. The degree of microscopic cellu-
lar differentiation and the slow growth rate of this tumor in
both the laboratory and clinical settings support the
conclusion that rhabdomyomas are hamartomas [11]. Other
216 B.D. Liess et al. / American Journal of Otolaryngology –Head and Neck Medicine and Surgery 26 (2005) 214 – 217

Table 1
Reported cases of multifocal adult-type rhabdomyoma in the head and neck
Author and year Age and sex Sites
Beyer, 1948 [1] 52, M R sublingual region, L hypopharynx
Goldman, 1963 [1] 82, M L sternohyoid muscle, L vocal cord
Assor, 1969 [1] 59, M L submandibular region, Lateral to R thyroid cartilage,
R parapharyngeal region
Albrechtsen, 1974 [1] 62, M R submandibular region (2 separate tumors)
Weitzel, 1976 [1] 56, M L tonsil, L hypopharynx
Scrivner, 1980 [1] 72, M R oropharynx, R base of tongue
Neville, 1981 [1] 58, M R floor of mouth, L supraglottic area
Gardner, 1983 [1] 60, M Superior to L submandibular gland, L ventricle of larynx
Schlosnagle, 1983 [1] 65, F R floor of mouth, L floor of mouth
Golz, 1988 [1] 79, M R posterior lateral to thyroid gland, midline retrolaryngeal
Blaauwgeers, 1989 [1] 32, M R neck, R larynx
Sheman, 1992 [10] 53, M L floor of mouth, R neck, adjacent to R thyroid lobe, deep to
R middle constrictor, L paraglottic, R
parapharyngeal, L sublingual
Sheman, 1992 [10] 75, M R neck (2), floor of mouth
Present case 69, M R epiglottis, R submandibular region
M, indicates male; F, female; R, right, L, left.

authors maintain that mature striated muscle is unlikely to
develop from tumorous tissue and proclaim that rhabdo-
myomas develop from fetal rests of tissue resulting from a
maturational defect in embryological development [1,9]. A
recent case of recurrent adult rhabdomyoma reported a
clonal cytogenetic abnormality in cells that involved
reciprocal translocations in chromosomes 15 and 17 and
other abnormalities on the long arm of chromosome 10.
These cytogenetic findings support that adult rhabdomyoma
is a true neoplasm [12].
Extracardiac rhabdomyomas in the head and neck region
are rare, and therefore, their radiological appearance has not
been well delineated. Computed tomographic scans or
magnetic resonance images may be both used to determine
the characteristics, extent of local involvement, and possi-
bility of multifocality. Typically, this tumor is slightly
hyperintense or isointense to muscle on T1- and T2-
weighted magnetic resonance images and demonstrates
mild diffuse enhancement with gadolinium [13,14]. Al-
though imaging alone may not clearly differentiate rhabdo-
myomas from other benign neoplasms, their submucosal
location and the absence of invasion into surrounding tis-
sues may help to distinguish them from malignant lesions.
Although the fetal and genital types of rhabdomyoma
can be confused with embryonal rhabdomyosarcoma, the
distinctive histopathology of the adult-type rhabdomyoma
should not be mistaken for any type of malignant tumor.
Usually, cytoplasmic cross striations, pathognomonic of
skeletal muscle cells, are so evident that confusion with
any other benign tumor is unlikely. In those few cases in
which vacuolated cells predominate and striations are rare,
the differential diagnosis would include granular cell tumor
and hibernoma primarily [15].
If any diagnostic uncertainty remains after careful rou-
tine microscopy, immunohistochemical stains can assist in
proper classification. Rhabdomyoma cells are readily deco-
rated by immunostains for muscle markers such as muscle-
specific actin, desmin, and myoglobin [3,15]. Granular cell
tumors are usually composed of smaller cells, are not as
sharply demarcated, and show diffuse strong staining for
S-100 protein immunostain. Rhabdomyomas can occasion-
ally demonstrate S-100 protein expression; however, the
staining is weak and focal. Hibernoma, a benign lipoma-
tous tumor resembling fetal fat, has a mixture of granular
and vacuolated cells, such as the adult rhabdomyoma. The
vacuoles tend to be smaller, and often, areas of the tumor
show obvious lipocytes. They do not react with muscle
immunostains, but may express S-100 protein [15].
Complete surgical extirpation is the treatment of choice.
Recurrence rates reported vary from uncommon to approx-
imately 42% and usually result from incomplete primary
excision of a lobulated or multicentric tumor [1,5]. A
secondary mass may develop decades later because of the
propensity of this neoplasm for slow growth and should be
appropriately excised.
5. Conclusion
Although it rarely occurs, adult extracardiac rhabdo-
myoma is most commonly found in the head and neck and
should be considered in the differential diagnosis of masses in
this region. Careful radiological examination is necessary to
evaluate for multiple lesions. There is no known instance of
rhabdomyoma associated with or giving rise to rhabdomyo-
sarcoma. Therefore, once the histological diagnosis of
rhabdomyoma is established, the treatment of choice for this
benign lesion is excision.
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