Embryonic Rhabdomyosarcoma

Case Report and Literatures Review

DR.Header Dakhel Al- Muala .BDS , M Sc , F I C M S .*

DR.Abbas Taher Alaboudy , BDS, LDSRCPS, MSc, FICS, FACOMS,**

Abstract :
Rhabdomyosarcoma is a fast-growing, highly malignant tumor which accounts for over
half of the soft tissue sarcomas in children. Less frequently, other soft tissue sarcomas are
found in children: fibro sarcoma, mesenchymoma, synovial sarcoma, and liposarcoma
.Rhabdomyosarcoma often causes a noticeable lump on a child's body. If the tumor is
located internally, the symptoms depend on its location.
Keywords :Rhabdomyosarcoma , malignant tumor , surgery and chemotherapy.

Introduction :

Rhabdomyosarcoma (RMS) is a mesenchymal malignant neoplasm that exhibits

skeletal muscle cells with varying differentiation degrees1 , Rhabdomyosarcoma is the
most common soft tissues tumor of childhood2 . RMS was first described by Weber in
1854 , and accounts for 6% of all malignancies and represents 50% of all soft tissue
sarcomas in children under 15 years of age3. Diagnosis of Rhabdomyosarcoma is difficult
not only because of the consistent absence of the typical rhabdomyoblast with cross
striations but also because of the close resemblance of this tumor to malignant fibrous
histiocytoma and other Pleomorphic sarcomas4 . It occurs most often in the head and neck
region, genitourinary tract, retroperitoneum and, to a lesser extent, the extremities5.
Rhabdomyosarcoma tumors arise from a cell called a "rhabdomyoblast", which is a
primitive muscle cell. Instead of differentiating into striated muscle cells, the
rhabdomyoblast grow out of control. Since this type of muscle is located throughout the
body, the tumors can appear at numerous locations. The four major sites in which
Rhabdomyosarcoma is found are head and neck; around the eyes 35-40 % , genitourinary
tract 20% , extremities 15-20% , trunk (chest and lungs) 10-15% .
Head and neck RMS is anatomically divided in two categories: parameningeal (including
nose, nasopharynx, paranasal sinuses, mastoid region, infra-temporal and pterygopalatine
fossae and medium ear) and non-parameningeal (which include scalp, orbit, parotid
gland, oral cavity, oropharynx and larynx) 4.
In the oral cavity the most common sites are tongue, palate and buccal mucosa5,6 our
patient, buccal mucosa were involved. Four basic histological patterns of RMS are
recognized: embryonic, botryoid, alveolar and Pleomorphic. The embryonic type
represents more than 70% of all cases1. RMS involving the head or neck is most
commonly of the embryonic subtype and rarely involves regional lymph nodes7 ,
lymphatic spread is un usual with head and neck primaries particularly in children under
the age of teen8.
Histological , embryonic RMS is characterized by a mixture of Pleomorphic and skeletal
immature muscle cells, the so-called rhabdomyoblast. These cells have a distinctive
eosinphilic-rich cytoplasm representing poorly formed myofilaments . and proliferate in a

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myxoid loose stroma9 . RMS has been associated with familial syndrome such as
neurofibromatosis ,the li-fraumen , Beckwith –wiedemann ,and Costello syndrome ,many
of these families have germ line inactivating mutations of the p53 tumor suppressor
gene , whose normal function involves cell cycle regulation and in the maintenance of
genomic integrity10 . Hypoploidy may lead to inactivation of tumor suppressor genes
which might lead to disturb cell cycle11 . Kummoona R. et al 2007 reported that Bcl-2
expression was significantly higher in tumor tissues compared with that in normal
mucosal tissues which suggested that the tumor cells are less susceptible to apoptosis
compared with cells of normal mucosal tissues 12 .
Rhabdomyosarcoma is treated by a combination of surgery, chemotherapy, and radiation.
1.Surgery. Resection (removal) of the primary tumor. If necessary after chemotherapy or
radiation has shrunk the tumor.
2.Chemotherapy. The following chemotherapy agents are commonly used: vincristine,
cyclophosphamide, dactinomycin, adriamycin, ifosfamide, VP-16.
3.Radiation. External beam radiation is used in some cases of Rhabdomyosarcoma.
4.Stem cell transplant allogenic / autologous .
The objective of this article is to describe a case of an oral embryonic RMS in a very
young patient with diagnosis being only achieved through clinical, histopathological
investigation .

Case report:
A seven year-old female was referred to our Maxillofacial department for evaluation of a
non tender mass on his face that had appeared two years earlier . During extra-oral
examination an extensive swelling on the left side of the face was observed, and fever is
only rarely present intra oral examination a single , large , exophytic , botryoid with
undefined limits, shiny and smooth surface, reaching the mandible ramus, occupied all
buccal vestibule , during intra-oral examination, a normal-colored mass was verified,
with smooth surface and fibrous consistency involving the buccal mucosa.
Ultrasonography reveals large hypoecchoic area at soft tissues mass ( 3.5 x 1.8 cm ) deep
in the check muscle hypo vascular on color Doppler Sonography at left malare region
deep in the muscle of check which appear hypo vascular in color Doppler Sonography .
Computerized tomography revealed a soft tissues mass isodense to the muscles ( 3.5 x
1.8 ) overlying the left maxillary bone ,no sign of bony erosion , lesion showed
heterogeneous enhancement. In view of these findings, diagnostic possibilities of
Burkett's lymphoma, RMS , Ewing’s sarcoma and fibro- sarcoma were hypothesized and
an incision biopsy was performed. Hematoxylin and eosin-stained sections revealed a
malignant neoplasm of mesenchymal origin constituted of a loose myxomatoid stroma
exhibiting scattered Pleomorphic cells embryonic type. Laboratory studies was include a
complete blood count with differential serum electrolytes ,blood urea nitrogen ,liver
function tests ,serum level of creatinine , uric acid ,magnesium and calcium . Patient was
operated under general anesthesia ,local excision intra orally and four pieces for free
margin was performed. Histopathological section showed the presence of loosely
arranged, haphazardly oriented, large round very elongated tumor cells ,strap – like with
abundant , there was Pleomorphic cells with hyper chromatic nuclei and deeply
eosinphilic cytoplasm. With obvious evidence of cross striations were seen and the four
pieces of biopsy was free from lesions histopathological . Thus diagnosis of Pleomorphic

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Rhabdomyosarcoma was confirmed by histopathology patient send for pediatric
oncology for adjuvant chemotherapy , follow up post surgery was performed for thirteen
month .

A. Extra oral photograph .

B. intra oral photograph .

C. Ultrasonography reveals large hypoecchoic area at soft tissues .

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 D. C T scan revealed a soft tissues mass isodense to the muscles( 3.5 x 1.8 )

E. Hematoxylin and eosin-stained sections revealed loosely arranged large round or

Pleomorphic cells .

F. Hematoxylin and eosin-stained sections revealed large hyper chromatic nuclei

with prominent nucleoli and abundant well defined eosinphilic cytoplasm

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G. Intra oral photograph showed excision of the tumor under general anesthesia .

H. photograph of the specimen postoperatively .

I. Ultrasonography postoperatively reveals tumor was completely excised .

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 J. intra oral photograph thirteen month postoperatively .

K. Extra oral photograph showed symmetry of the face thirteen month postoperatively.

Rhabdomyosarcoma is an uncommon malignant tumor of striated muscle. Peak age for

occurrence is between two and six years Our patient was seven year-old , which was in
agreement with Shafer WG et al 13,14,6 Congenital Alveolar RMS clinical and molecular
distinction from alveolar RMS in older children, Head and neck RMS is anatomically
divided in two categories: parameningeal and non-parameningeal (which include scalp,
orbit, parotid gland, oral cavity, oropharynx and larynx)4. In the oral cavity the most
common sites are tongue, palate and buccal mucosa.5,6our patient was non-parameningeal
one and involved the buccal mucosa which was in agreement with, K. Pavithran et al 6 ,
E. Peters et al 5.
The Intergroup Rhabdomyosarcoma Study (IRS) classifies RMS into four distinctive
groups according to biological behavior. Group I tumors have better prognosis whereas
groups III and IV have the worst. Studies show that around 50% of RMS patients die
following chemotherapy15 or one year after emission of histopathological diagnosis16 .
The diagnosis of RMS is confirmed through biopsy of the primary tumor and an adequate
amount of tissue should be obtained ,In agreement with Pohar –Markinsen et al 2008,fine
needle aspiration biopsy is in adequate for diagnosis17 . In the described case, we chose as
biopsy spot the left buccal mucosa 3 . Histopathological our case was embryonic type
which was most common in children and head & neck which was in agreement with
Shafer WG et al13 Embryonic Rhabdomyosarcoma was closely resembles developing
muscle in the7 to 10 week old fetus. It is characterized by round to spindle cells of small
to moderate size, a central ovoid to round nucleus and occasional cross striations. It is
most commonly seen in children and is the frequent type involving the head and neck
region13. Microscopically examination occasionally reveals striations in the muscle cells
or rhabdomyoblast1 .

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Regarding the histogenesis of Rhabdomyosarcoma is controversial Enzinger and Weiss4
proposed two histogenic possibilities for Rhabdomyosarcoma , one from the primitive
and undifferentiated mesenchymal cells and the other from the embryonic muscle tissue
displaced during early stages of development, or may be apparently arisen from the
stroma of a long standing ameloblastoma18 . Genetic changes like t , familial occurrence
or occasional trauma may serve as a trigger mechanism to induce such growth19 .
For the treatment of RMS, The first line of treatment is radical excision, intensive doses
of chemotherapy in multi-drugs and multi-cycle regimens are used. Our patient was
treated with a combination of vincristine, actinomycin D and endoxane . Direct
complications of chemotherapy are myelosuppresion, thrombocytopenia and fever
neutropenia, mucositis, nausea, vomit and neurotoxicity20.

It is believed that adjunct combination chemotherapy may greatly improve the

prognosis20 ,21 ,Inadequately treated tumors grow in an infiltrative manner and recur in a
high percentage of cases. Bone does not constitute an effective barrier to the growth of
the tumor and bone invasion is a frequent finding in head and neck Rhabdomyosarcoma
but our case was not involved the maxilla C T scan revealed that, Major sites of
metastasis are the lungs, lymph nodes and bone marrow followed by heart, brain,
meninges, pancreas, liver and kidney21.
Prognosis of RMS is excellent in relation to other oral soft tissues malignant lesions 5,22
. Prognosis of RMS is influenced by clinical staging and anatomic site of the tumor5 , and
may be influenced by age of patient and genetic factor. Within histological subtypes
whereas botryoid has the best3. The described case was classified as embryonic, and
during physical examination and investigation there were no signs of metastasis, which
is a favorable finding for prognosis. Nevertheless, our patient survived for thirteen
month .
In conclusion , Rhabdomyosarcoma is an uncommon malignant tumor of striated muscle ,
we described a brief review of RMS of head and neck , clinical and histological aspect of
intra oral case . , Rhabdomyosarcoma was soft tissues sarcoma should be included in the
different diagnosis especially in children .Our patient was treated with a combination of
surgery and chemotherapy , prognosis of Rhabdomyosarcoma is influenced by clinical
staging , anatomic site of the tumor and histological sub type .

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_______________________________________________

Addresses:
*Department of Oral and maxillofacial surgery, Al –Sadder Teaching Hospital
College of Dentistry, Kufa University ,
header.dakhel @yahoo.com

**
OMF Surgeon in Private Practice
London,Uk
Pdc98@hotmail.com