Infant Gluteal Alveolar Rhabdomyosarcoma : A

Case Report
Rhyan Darma S*, Dita Anggara K**, Brian Wasita***, Sigit Bayudono****
* Orthopaedic Oncologic Surgeon, Departement of Orthopaedic & Traumatology
Faculty of Medicine Sebelas Maret University-Dr. Moewardi Hospital, Surakarta
** Orthopaedic Surgeon, Departement of Orthopaedic & Traumatology Faculty of
Medicine Sebelas Maret University-Dr. Moewardi Hospital, Surakarta
*** Departement of Pathology anatomy Faculty of Medicine Sebelas Maret
University-Dr. Moewardi Hospital, Surakarta
**** Resident of Orthopaedic & Traumatology Faculty of Medicine, Sebelas
Maret University

Abstract
Rhabdomyosarcoma (RMS) is a malignancy of mesenchymal cell origin that
primarily occurs in children and young adults. RMS is the most common
malignant solid tumour in children after neuroblastoma and nephroblastoma
(Wilms tumour). While the majority of cases of RMS are diagnosed in children
less than 6 years of age, RMS is uncommon in infants. This tumour accounts for
5% to 10% of all childhood tumours. However, can be seen very rarely in the
neonatal period also. It may arise anywhere in the body; head and neck, and
genitourinary regions being the most frequent sites. Truncal and gluteal
rhabdomyosarcoma is relatively rare occurrence. Alveolar rhabdomyosarcomas
(ARMS) usually appear in
adolescence. They are typically located in the extremities
and have a high capacity to metastasize. This case report describes a rare case of a
1 years old boy patient with Alveolar Rhabdomyosarcoma in right buttock. The
diagnosis was challenging as the presenting symptom was not specific but the
radiograph examination showed soft tissue sarcoma. Diagnosis was then
confirmed with biopsy. Patient had a surgical procedure of wide excision and
buttockecktomy.

Key Words :Gluteal region Alveolar Rhabdomyosarcoma, infant patient, Biopsy.

Introduction
Rhabdomyosarcoma (RMS) is a malignant tumor of mesenchymal origin
thought to arise from cells committed to a skeletal muscle lineage. It is the
commonest soft tissue sarcoma in childhood and accounts for 3.5% of childhood
cancers seen in the 0–14 year age group. More than 50% of the tumor occurs in
the first decade of life.1 2 Rhabdomyosarcoma (RMS) is the most common
malignant solid tumour in children after neuroblastoma and nephroblastoma
(Wilms tumour). This tumour accounts for 5% to 10% of all childhood tumours.
For all soft tissue sarcomas, RMS accounts for 19% of such cases in adults and
45% of cases in children. Rhabdomyosarcoma is the most common soft tissue
malignant neoplasm in the latter age group. Rhabdomyosarcoma is derived from
primary mesenchymal cells that show skeletal muscle differentiation.3,4,5,6,7
RMS, includes two main subtypes: embryonal (ERMS) and alveolar
(ARMS). It is classified in embryonal rhabdomyosarcoma (ERMS), alveolar
rhabdomyosarcoma (ARMS), botryoid rhabdomyosarcoma and spindle cell
rhabdomyosarcoma, with different phenotypes and clinical characteristics. The
ERMS and ARMS are the most prevalent and comprehend 70% and 20% of cases,
respectively. Due to greater aggressiveness and worse prognosis of ARMS in
comparison to ERMS, discrimination between different rhabdomyosarcoma
subtypes is of crucial clinical importance. Alveolar rhabdomyosarcomas (ARMS)
usually appear in adolescence. They are typically located in the extremities and
have a high capacity to metastasize.2,8
Although, it may arise anywhere in the body; it has a predilection for the
head and neck area, genitourinary tract and the extremities. Approximately, one
half and three‐fourths of the sarcomas of the extremities are alveolar and occur
more commonly in the leg. Gluteal region is a rare site for RMS.9 Clinical and
radiological features of this tumor are nonspecific, while the diagnosis requires
histopathological and IHC examinations. In this article, we present an rare case of
Alveolar rhabdomyosarcoma in 1 years old boy, steps of diagnosis were described
and the patient was followed up until months after the surgical treatment.

Material and Method

This study reported a case of right buttock soft tissue destruction caused by
Rhabdomyosarcoma that were treated by wide excision and buttockecktomy.

Case Report
A 1-year-old male presented with a 2 month history of lump on the right
buttock. The lump initially measures 2x1x2 cm, within 4 months it enlarges to
10x4x4 cm. The patient was able to walk normally and did not show any signs of
redness. The patient then had Vascular Doppler ultrasound, X-Ray of pelvic, and
MRI investigations.
 Fig 1. Clinical feature of right buttock

Fig 2. Ultrasound Vascular Doppler showing soft tissue with

hypervascularization in the right gluteus region

Fig 3. X-ray of pelvic showing soft tissue mass in the right inguinal region

The patient reported with no past medical history of trauma, weight loss,
and loss of appetite. History of chronic cough and fever, tumors, and previous
surgery was denied. There were no complications at birth,
There was no history of illness in prenatal care. The patient was born at
gestational age of 38th week, vaginal birth, cried spontaneously, and had no history
of stunted growth. Family history of tumors is refuted. The patient's history of
immunization was not complete since the age of 6 months due to the COVID-19
pandemic.
On physical examination, an abnormality was found on examination of the
patient's right buttock. On inspection, the skin was intact, no redness was found,
and a mass was seen. On palpation, an immobile mass was obtained with the size
of 10x5x5 cm and a warm skin temperature. No pain and neurovascular disorders
were found. There were no limitations in the patient's range of motion.
 Magnetic Resonance Imaging (MRI) revealed a 5,6x3,6x5,3 cm of solid
cystic lesion with necrotic areas clearly demarcated with irregular edges in the
right gluteus maximus muscle. On T1W1 appeared hypointense, T2 STIR
appeared hyperintense, T2W1 appeared iso-hyperintense which in post contrast
appeared heterogeneous contrast enhancement on solid components. Bilateral
inguinal lymphadeonpathy was also found

Fig 4. On MRI, T1WI appears hypointense showing a solid cystic lesion, T2WI
appears iso-hyperintense, and T2 STIR appears hyperintense.
 The biopsy results indicated an Ewing Sarcoma. These results then need to
be confirmed with the IHC CD-99 staining and PAS histochemical staining and
the biopsy results indicated an Alveolar Rhabdomyosarcoma. The patient then
underwent a surgical procedure of wide excision and buttockecktomy.

Fig 5. Size of the tumor is shown in comparation to ruler.

Fig 6. Histophataology results indicated an alveolar rhabdomyosarcoma

Discussion
Rhabdomyosarcoma (RMS) is a malignant tumor originating from
immature mesenchymal cells. soft tissue sarcomas usually appear in the pediatric
age group, and account for 3–5% of all childhood malignancies.9,10 The median
age at the time of diagnosis is five years and almost two third of the patients are
diagnosed before the age of 10 years.9-11
RMS is traditionally subdivided into embryonal, alveolar and
pleomorphic. Pleomorphic RMS, in contrast to embryonal and alveolar RMS,
almost exclusively occurs in adults (median age sixth decade). Alveolar RMS
represents about 20% of all RMS9,12 Embryonal RMS is the most common type
(60-70% of all RMS),9,13 and is the most predominant in neonates, infants and
young children.9,14 In formerly used pathologic classifications, RMS was divided
into two main types : alveolar and embryonal. The embryonal type includes the
botryoides and spindle cell subtypes. However, in the current WHO classification
(World Health Organisation; WHO 2013), four histological RMS types are
recognised and classified as follows :
1. Embryonal rhabdomyosarcoma :
a. Botryoides variant,
b. Anaplastic variant.
2. Alveolar rhabdomyosarcoma:
a. Solid variant,
b. Anaplastic variant.
3. Pleomorphic rhabdomyosarcoma.
4. Spindle cell/sclerosing rhabdomyosarcoma2
However, occurrence of RMS in the neonatal period is extremely rare and
only 1-2% of all cases are congenital. There are only a few reports about neonatal
RMS in the literature. Of 3,217 patients registered in the Intergroup
Rhabdomyosarcoma Study (IRS) I-IV, only 14 were in the neonatal period at the
time of diagnosis. In a report from the Italian Cooperative Group, among 50
infants with RMS over 20 years, 15 were considered as having congenital RMS.
Rodriguez et al reported only four patients with neonatal RMS treated during 37
years (1962-1999) of study period. Thus, knowledge about RMS in this age group
is sparse.9
In our case, we presented rare case of Alveolar Rhabdomyosarcoma in
gluteus. The tumors appeared at the predilection site at the right buttock and
revealed relatively typical MRI features, with T1W1 hypointense, T2 STIR
hyperintense, and T2W1 iso-hyperintense which heterogeneously enhacing solid
components post contrast. No calcification was identified but bilateral inguinal
lymphadeonpathy was found. The biopsy results indicated an Ewing Sarcoma.
These results then need to be confirmed with the IHC CD-99 staining and PAS
histochemical staining and the biopsy results indicated an Alveolar
Rhabdomyosarcoma.
Rhabdomyosarcoma treated by a surgical excision in combination with
adjuvant or neoadjuvant chemotherapy. Buttockectomy procedure introduced by
Sugarbaker consists of the following steps: 1) incision of the skin around the
mass, 2) making a skin flap and reveal the whole portion of gluteus maximus
muscle, 3)
identifying the inferior border of gluteus maximus muscle and following laterally
until the iliotibial tract where it inserts and 4) resecting the mass circumferentially
starting at inferior aspect of gluteus maximus. There is minimal morbidity
associated with gluteus maximus resection procedure. Henry's approach to the
buttock and posterior thigh readily expose two important structures: the sciatic
nerve which is on the distal side of the muscle and the insertion of the muscle on
the femur and iliotibial band. The procedure is then followed by detachment of the
muscle from its insertion, creating a large subcutaneous flap, and subsequently
separation from the origin which is attached on the sacral alar and iliac crest. The
defect caused by the excision should be closed carefully to prevent complication,
such a large seroma from dead space which is only covered by subcutaneous
flap.15
Age of the patient, location of the tumor, histopathologic features and
metastatic status are the important prognostic factors for RMS. Treatment of
neonatal RMS requires a multidisciplinary approach involving paediatric
oncologists, radiologists, paediatric surgeons and pathologists. Surgery and
chemotherapy is the mainstay of the management of these cases and both have
their own specific role. Complete resection of rhabdomyosarcoma is
recommended. Embryonal RMS generally responds very well to chemotherapy.9,10
Conclusion
 Rhabdomyosarcoma (RMS) is the most common malignant solid tumour
in children after neuroblastoma and nephroblastoma (Wilms tumour). However,
can be seen very rarely in the neonatal period also. Alveolar rhabdomyosarcomas
(ARMS) usually appear in adolescence. They are typically located in the
extremitiesand have a high capacity to metastasize The diagnosis was challenging
as the presenting symptom was not specific but the radiograph examination
showed soft tissue sarcoma. Diagnosis was then confirmed with biopsy and
immunohistochemical workup. Complete resection of rhabdomyosarcoma is
recommended. Due to greater aggressiveness and worse prognosis of ARMS in
comparison to ERMS, discrimination between different rhabdomyosarcoma
subtypes is of crucial clinical importance. Embryonal RMS generally responds
very well to chemotherapy. But for alveolar rhabdomyosarcoam there is no
evidence for treatment with chemotherapy, especially in infant cases.

References

1. Saroj PP, Girish C, Tushar V, Maya Pr, Deepak B, Gauri K, Venkatraman

R
Sandeep A, Siddharth L, Brijesh A, Tanvir K, G. K. Rath, Sameer B.
Diagnosis and Management of Rhabdomyosarcoma in Children and
Adolescents: ICMR Consensus Document. The Indian Journal of
Pediatrics. 2017. doi : 10.1007/s12098-017-2315-3
2. Ireneusz D, Paweł K, Michał D, Ana BL, Danuta JL. Rhabdomyosarcoma
in children – cureent pathologic and molecular classification. PoL J PathoL
2018; 69 (1): 1-13.
3. Koscielniak E, Morgan M, Treuner J. Soft tissue sarcoma iN
children: prognosis and management. Paediatr Drugs 2002;
4:21-28.
4. Malempati S, Hawkins DS. Rhabdomyosarcoma: review of
the Children’s Oncology Group (COG) Soft-Tissue Sarcoma Committee
experience and rationale for current COG studies. Pediatr Blood Cancer
2012;59:5-10.
5. Tarnowski M, Grymuła K, Tkacz M, et al. Molekularne
mechanizmy.regulacji przerzutowania komórek nowotworowych na
 przykładzie mięsaka prążkowanokomórkowego (rhabdomyosarcoma).
Postepy Hig Med Dosw 2014;68: 258-257.
6. Wachtel M, Runge T, Leuschner I, et al. Subtype and prognostic
classification of rhabdomyosarcoma by immunohistochemistry. J Clin
Oncol 2006; 5:816-822.
7. Barr FG. Molecular genetics and pathogenesis of rhabdomyosarcoma. J
Pediatr Hematol Oncol 1997; 19: 483-491. Bol Med Hosp Infant Mex.
2016;73(6):405---410.
8. Pilar EA, Briceida LM, Carmen RC, Mario PD. Alveolar
rhabdomyosarcoma: origin and prognostic implications of molecular
findings.
9. Agarwal P, Bagdi RK, Raghupathi V. Gluteal rhabdomyosarcoma in a
newborn – A case report. Indian J Child Health. 2014;1(1):12-14.
10. Singh O, Gupta SS, Upadhyaya V, Sharma SS, Lahoti BK, Mathur KR.
Rhabdomyosarcoma of the posterior chest wall in a newborn: a case report.
Cases J. 2009;2:6818
11. Perin C, Lacour JP, Thyss A, Michiels JF, Rostain G, Valla J, et al.
Subcutaneous rhabdomyosarcoma in children; Clinical, Immunologic and
ultrastructural aspects. Ann Dermatol Venereol. 1988;115:919-25
12. Van Rijn R, Wilde J, Bras J, Merks J. Imaging findings in non-craniofacial
childhood rhabdomyosarcoma. Pediatr Radiol. 2008;38:617-34.
13. Isaacs H Jr: Congenital and neonatal malignant tumors. A 28-year
experience at Children’s Hospital of Los Angeles. Am J Pediatr Hematol
Oncol.1987;9:121-9.
14. Parkes SE, Muir KR, Southern L, Cameron AH, Darbyshire PJ, Stevens
MC. Neonatal tumours: a thirty year population-based study. Med Pediatr
Oncol. 1994;22:309-17.
15. Nurjati CS, Ali A, Achmad FK. Gluteal region spindle cell variant
embryonal rhabdomyosarcoma in infant treated with buttockectomy.
Human Pathology: Case Reports 15 (2019) 105–109