Jpn J Clin OncoI1998;28(3)222-226
I Case Reports /
Rhabdomyosarcoma of the Diaphragm: Report of an Adult Case
Vutaka Midorikawa 1, Keiichi KUbota 1, Masaya Mori 2, Hiroto Koyama 3, Nobuyoshi Aihara 3,
Masatoshi Makuuchi1 and Naoaki Kajiura 3
1Second Department of Surgery and 20 epartment of Pathology, Faculty of Medicine, University of Tokyo, Tokyo
and 3Department of Surgery, Tokyo Seamen's Insurance Hospital, Tokyo, Japan
Diaphragmatic tumors, whether benign or malignant, may not generally reveal any
symptoms in the early phase and may be found accidentally. During a pre-employment
physical examination, a 20-year-old woman wasfound to have anabnormal shadow onthe
leftdiaphragm. An X-ray film, computed tomography andultrasonography showed a giant
mass on the left side, to the rear of the heart. She underwent surgery via a left
thoraco-abdominal approach. The lesion was found to arise from the leftdiaphragm, and
multiple disseminated lesions were scattered in the left thoracic cavity. Histological
examination showed many large, oxyphilic rhabdoid cells between diffusely proliferating,
spindle-shaped cells, and the tumor was subsequently diagnosed as a pleomorphic
rhabdomyosarcoma of the diaphragm, of which the location and histological type were
veryrare. Despite adjuvant therapy, chest X-ray and CT revealed increasing tumorgrowth
in the left cavity and she died one year after surgery.
Key words: diaphragm - rhabdomyosarcoma - diaphragmatic tumor- Intergroup Rhabdomyosarcoma Study
INTRODUCTION
Primary diaphragmatic tumors, albeit rare, include a variety of
tumors such as bronchial, mesothelial and teratoid cysts, fibrosarcoma, lipoma, fibroma, neurofibroma and rhabdomyosarcoma
(1,2). This makes it difficult to diagnose tumors located in this
area correctly, despite recent advances in diagnostic imaging
modalities (3-7) such as ultrasonography (US) (3,5) and CT
(3,6,7). In this paper, a patient with rhabdomyosarcoma of the left
diaphragm is reported and particular attention is paid to the
incidence, symptoms and treatment of the tumor.
CASE REPORT
A 20-year-old woman was admitted to our hospital with an
abnormal shadow on the left diaphragm revealed on a chest X-ray
film taken during a pre-employment physical examination. A
hard tumor, 15 x 15 em in size, was palpable in the eighth
intercostal space at the intrascapular region. A chest X-ray
revealed a mass on the left side, to the rear of the heart (Fig. 1).
Received May 9, 1997; accepted October 1, 1997
For reprints and all correspondence: Yutaka Midorikawa, Second
Department of Surgery, Faculty of Medicine, University of Tokyo, 7-3-1,
Hongo, Bunkyo-ku, Tokyo 113, Japan
Abbreviation: US, ultrasonography
A CT scan of the chest demonstrated a heterogeneous enhanced
tumor of the left diaphragm (Fig. 2a), US revealed a heterogeneous mass (11.1 x 11.5 em) with a solid and cystic pattern (Fig.
2b) and angiography demonstrated a hypovascular tumor. Under
a diagnosis of either a retroperitoneal or a diaphragmatic tumor
without a definite diagnosis as being benign or malignant, the
patient underwent surgery via a left thoraco-abdominal approach.
A hard mass, 15 x 14 x 3.5 ern, arising from the left diaphragm
had invaded the lower lobe of the left lung and pleura and multiple
disseminated lesions in the pericardium and pleura were found.
The main tumor and its diaphragmatic lesions were resected, but
the other lesions were unresectable. Pathological findings of the
specimen led to the lesion being diagnosed as a rhabdomyosarcoma of the diaphragm, clinical stage group IV, as defined by the
Intergroup Rhabdomyosarcoma Study. Although the operative
procedure was palliative, the patient did not agree to undergo
severe chemotherapy because of its side effects such as alopecia,
nausea and anorexia, so a chemotherapy regimen of relatively low
dose (vincristine 1.5 mg/m 2 x 12, actinomycin D 0.010 mg/kg x
4 and cyclophosphamide 6 mg/kg x 4) was instituted three weeks
later with simultaneous radiotherapy (2 Gy x 21 sessions). After
discharge, chest X-ray and CT revealed rapid increasing tumor
growth in the left thoracic cavity and the patient developed
progressive dysphagia, cough and pleural effusion, and died one
year later.
JpnJ Clin OncoI1998;28(3)
223
Figure 1. Chest X-ray findings of the tumor. Chest X-ray revealed a
retrocardiac mass at the left diaphra gm.
P ATHOLOGY
Macro scopically, the tumor appeared to be well encapsulated by
white-gray, smooth fibrous connection tissue, including two
protruding nodular lesions. Histological examination showed that
the tumor consisted of diffusely proliferating, rounded or
elongated cells with eosinophilic cytoplasm. Some of them were
so-called tadpole or strap cells and multinucleated cells of which
nuclei showed hyperchromasia (Fig. 3). No cross striations were
evident in abundant eosinophilic cytoplasm. The cytoplasm was
diffusely positive for periodic acid-Schiff stain. Immunohistochemical examination showed that the cytoplasm was positive for
desmin (Indirect Method, Monoclonal Mouse Anti-Human
Desmin , DAKO @)) (Fig. 4), actin (Indirect Method, Alpha
Smooth Muscle Actin Monoclonal, IMMUNON @) and myoglobin (Indirect Method, Rabbit Anti-Human Myoglobin, DAKO@» .
These findings led to the lesion being diagnosed as a rhabdomyosarcoma of pleomorphic type.
Figure 2. (a) Comput ed tomographic findings of the lesion. Computed
tomography showed a heterogeneous enhanced tumor of the diaphra gm or
retroperitoneum. (b) Abdomin al ultrasonographic findings of the lesion .
Ultrasonography showed a heterogeneous tumor with a solid and cystic pattern.
DISCUSSION
Rhabdom yosarcoma is quite a rare primary diaphragmatic tumor.
In 1965, Wiener and Chou reviewed 71 cases of primary tumors
of the diaphragm reported from 1886 to 1963 and only two had
rhabdomyosarcomas ( I). In 1971, Olafsson et al. described
another 14 cases of primary diaphragmatic tumors reported from
1964 to 1968 (2), and between 1969 and 1995,55 such cases,
including six of rhabdomyosarcoma, were reported in the
literature. to the best of our knowledge (Table 1). Overall, only
eight patients (5.7%) were diagnosed as having rhabdomyosarcoma of the diaphragm (3-10) (Table 2).
Figure 3. Histological findings of the tumor. The tumor consisted of diffusely
proliferating, spindle shaped cells with large ovo id and huge bizarre shaped
hyperchromatic nuclei.
Although some patients with rhabdomyosarcoma of the
diaphragm were reported to be asymptomatic, most had several
symptoms, such as epigastralgia, pain in the lower part of the
chest, anorexia, vomiting, dysphagia, cough and dyspnea (Table
224
Rhabdomyosarcoma of the diaphragm
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Figure 4. Immunohistochemical findings of the tumor. The cytoplasm of the
tumor was strongly stained by desmin.
2). The presence of diaphragmatic tumors can be demonstrated
using several diagnostic imaging modalities. A chest X-ray study
may reveal an elevated hemidiaphragm, a localized diaphragmatic hump or pleural effusion. CT and US usually visualize a
heterogeneous and enhanced diaphragmatic mass and its extension into the contiguous organs. Federici et al. reported typical
neoplastic tumor staining after abdominal angiography (3),
whereas a hypovascular lesion was detected angiographically in
our patient. Mandal et al. documented the utility of gallium
scintigraphy, which showed increased isotope uptake by the
lesion (5). Other examinations, such as an upper gastrointestinal
series and barium enema, may reveal the contiguous organs
dislocated or invaded by the tumor. However, it may occasionally
be difficult to determine whether a tumor originates in the
diaphragm, pleura or retroperitoneum. The tumor in our patient
could not be diagnosed as a diaphragmatic one even after CT, US
and angiography. Clinically, these findings are not characteristic
only of rhabdomyosarcoma, but are common to all diaphragmatic
tumors and, therefore, histological examination is still the gold
standard for diagnosis . Although Eustace et al. reported that they
made a definitive diagnosis of primary rhabdomyosarcoma of the
diaphragm preoperatively on the basis of histological findings
obtained by examining a CT-guided biopsy specimen (7), a
definitive diagnosis is usually made postoperatively according to
the histological findings of resected specimens.
Table 1. Primary tumors of the diaphragm
Patho-anatomic diagnosis
Wiener & Chou
Olafsson
Authors
1868-1963
1964-1968
1969-1995
Total
Benign
Adenoma, adrenal cortical
0
o
o
Adenoma liver cell
0
o
Chondroma
0
Angiofibroma
Cyst, bronchial, mesothelial, teratoid
Fibroma
3
12
2
19
6
2
3
4
6
Fibrolymphangioma
0
o
Fibromyoma
0
o
Lymphangioma, cystic
0
o
o
Leiomyoma
0
2
3
Lipoma
0
19
28
0
o
Hamartoma
9
Mesotherioma
2
Neurilemmoma
2
0
6
8
Neurofibroma
4
0
2
6
0
o
0
o
o
2
Rhabdomyofibroma
Malignant
Fibroangioendothelioma
Fibromyosarcoma
Fibrosarcoma
2
0
5
14
o
2
0
2
3
0
4
5
8
Hemangioendothelioma
Hemangiopericytoma
Leiomyosarcoma
Liposarcoma
0
0
Jpn J Clin OncoI1998;28(3)
225
Table 1. Contiinued
Patho-anatomic diagnosis
Wiener & Chou
Olafsson
Authors
1868-1963
1964-1968
1969-1995
Malignant schwannoma
0
0
1
Myosarcoma, undifferentiated
2
0
o
Neurofibrosarcoma
2
0
Rhabdomyosarcoma
2
0
Sarcoma
2
Sarcoma, endothelial, vascular
2
Sarcoma, mixed cell,
2
Total
2
myoblastic sarcoma
3
6
8
2
5
0
o
2
0
o
2
2
o
o
o
polymorphocellular
Sarcoma, undifferentiated
Synovioma, malignant
o
Mesenchymoma
71
Totals
2
56
14
141
Table 2. Rhabdomyosarcoma of the diaphragm
Ref. no.
Age, Sex
Side
Symptoms
Examination Findings
Therapy
Outcome
8
51, F
R
Neck pain, abdominal distress, nausea,
peritonsillar abscess
NO
NO
NO
NO
9
14,M
R
A finn swelling in the right lateral chest wall
Biopsy: malignant tumor
NO
10
1, F
L
NO
NO
NO
NO
3
4,F
L
Abdominal mass, anorexia
US & CT: ovoidal mass
angiography: hypervascularization
upper GI & IVP: dislocation of the
stomach and left kidney
TR +CHT
cure
4
4,M
L
Anorexia, dyspnea
Chest X-ray: hydropneumothorax
thoracentesis: hemothorax
TR +CHT
cure
5
52,M
L
Anorexia, anemia, decreased breath sounds
Chest X-ray & US: round and
homogeneous mass Gallium scan:
increased uptake
TR
died 1 mo
postoperatively
6
26,M
L
Epigastralgia, vomiting, atelectasis
CT: solid mass and pleural effusion
thoracentesis: hemothorax
TR + CHT+ RAD
cure
7
12,M
L
Dysphagia
Chest X-ray: retrocardiac mass
upper GI: typical of achalasia CT:
bulky hypodense non-enhancing
mass CT guided biopsy:
rhabdomyosarcoma
NO
died 3 mo
postoperatively
20,F
L
Asymptomatic
Chest X-ray: retrocardiac mass CT
and US: heterogeneous and
unenhancing mass
TR + CHT+RAD
died 1 yr
postoperatively
Authors
CHT, chemotherapy; F, female; IVP, intravenous pyelography; L, left; M, male; NO, not described; R, right; RAD, radiation therapy; TR, tumor resection; upper
GI, upper gastrointestinal series.
Histologically, rhabdomyosarcoma is divided into three major
categories: embryonal, alveolar and pleomorphic. Embryonal
rhabdomyosarcoma, the most common type, is regarded as a
high-grade malignant tumor and occurs most frequently in the
first years of life. Alveolar rhabdomyosarcoma accounts for
10-20% of all cases and occurs mainly in adolescents, and
pleomorphic rhabdomyosarcoma, the diagnosis in our patient, is
believed to be very rare, occurs predominantly in the extremities
of adults and its prognosis is generally poor (11).
When a diaphragmatic tumor cannot be diagnosed as benign,
as in our patient, it should be resected, because it may be
malignant: the ratio of malignant to benign tumors is about 3:2
(Table 1). A thoraco-abdominal approach may be the most useful
for exploring both the abdominal and thoracic cavities. If
226
Rhabdomyosarcoma of the diaphragm
possible, the lesion should be completely resected, including the
lung, pleura and chest wall invaded by the tumor. A variety of
techniques using prosthetic materials have been advocated for
reconstruction of the chest wall and diaphragm after major
en-bloc resection, but as infection or rejection of the prosthetic
patch may occur, some authors have recommended using various
autologous patches. When rhabdomyosarcoma is diagnosed after
surgical resection, the patient should receive adjuvant chemotherapy comprising vincristine, actinomycin D and cyclophosphamide with or without radiotherapy, depending on the clinical
stage defined by the Intergroup Rhabdomyosarcoma Study (12).
This protocol on rhabdomyosarcomas developing in other
organs, such as the head and neck, genito-urinary tract and
extremities, is usually effective, at least initially, but its effect on
rhabdomyosarcoma of the diaphragm is unknown. Our patient
was young and a cosmetic problem and side effects stopped her
from agreeing to undergo severe chemotherapy. Consequently,
treatment was ineffective.
In summary, we have reported a patient with an asymptomatic
rhabdomyosarcoma of the diaphragm. As it is difficult to
diagnose diaphragmatic tumors, some of which are malignant,
whenever one is found, surgical treatment should be carried out.
This should be followed, if necessary, by adjuvant therapy.
References
1. Wiener MF, Chou WHo Primary tumors of the diaphragm. Arch Surg
1965;90:143-52.
2. Olafsson G, Rausing A, Holen O. Primary tumors of the diaphragm. Chest
1971;59:568-70.
3. Federici S, Casolari E, Rossi F, Ceccarelli PL, Zanetti G, Mancini A.
Rhabdomyosarcoma of the diaphragm in a 4-year-old girl. Z Kinderchir
1986;41:303-5.
4. Vano J, Fernandez L, Mayayo E. Primary rhabdomyosarcoma of the
diaphragm in a 4-year-old child. Favourable outcome at 5 years after surgery
and chemotherapy. Ann Chir 1988;42:617-19.
5. MandaI AK, Lee H, Salem F. Review of primary tumors of the diaphragm. J
Natl Med Assoc 1988;80:214-17.
6. Rea F, Loy M, Bonavina L, Vigo M, Salmaso R, Calabro F. Primary
rhabdomyosarcoma of the diaphragm. Report of a case presenting with
hemothorax. Thorac Cardiovasc Surg 1992;40:201-3.
7. Eustace S, Fitzgerald E. Primary rhabdomyosarcoma of the diaphragm: an
unusual cause of adolescent pseudo-achalasia. Pediatr Radiol
1993;23:622-3.
8. Ryan E. Rhabdomyosarcoma of diaphragm; report of case. Cleveland Clin
Quart 1939;6:304-6.
9. Peery TM, Smith WA. Rhabdomyosarcoma of diaphragm: case report. Am J
Cancer 1939;35:416-21.
10. Heyn RM, Holland R, Newton Jr. WA, Tefft M, Breslow N, Hartmann JR.
The role of combined chemotherapy in the treatment of rhabdomyosarcoma
in children. Cancer 1974;34:2I28-42.
II. Miettinen M, editor. Soft-Tissue Tumors. In: Damjanov I, Linder J, editors.
Anderson's Pathology, 10th ed. St. Louis: The C.Y. Mosby Company,
1996:2504-7.
12. Maurer HM, Moon T, Donaldson M, Fernandez C, Gehan EA, Hammond D,
et al. The intergroup rhabdomyosarcoma study; A preliminary report. Cancer
1977;40:2015-26.