CONGENITAL RHABDOMYOSARCOMA: A RARE AXILLARY ...

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Abstract. Rhabdomyosarcoma (RMS) is a malignant mesenchymal neoplasm that exhibits striated muscle differentiation, the third most common soft tissue ...
International Journal of Biomedical and Advance Research                                                                212   

CONGENITAL RHABDOMYOSARCOMA: A RARE AXILLARY PRESENTATION Ajay Damor1, Bhupeshwari Patel*1, Rukamangad Mapshekhar2, Nidhi Patel1 *1 2

Department of Pediatrics, Sumandeep Vidyapeeth, Vadodara, India Department of Surgery, Sumandeep Vidyapeeth, Vadodara, India

E-mail of Corresponding Author: [email protected]

Abstract Rhabdomyosarcoma (RMS) is a malignant mesenchymal neoplasm that exhibits striated muscle differentiation, the third most common soft tissue sarcoma of childhood accounting for over half of all cases of soft tissue sarcomas in children. Rhabdomyosarcoma (RMS) is extremely rare in neonate1-6. Only twelve percent rhabdomyosarcoma account in trunk7. We report a case of congenital rhabdomyosarcoma in axilla (pretreatment staging T1b N0 M0) with embronal histological subtype. Treatment included complete resection with safe surgical margin and standerd chemotherapy with VAC regimen. Key Messages: Though most of the trunk tumours are of alveolar histological subtype without metastasis but rarely congenital RMS of trunk can present with large masses with metastasis and embryonal histological subtype in newborn. Keywords: Congenital, Rhabdomyosarcoma, Embryonal, VAC. 1. Introduction Congenital RMS is very rare entity, according to our review this may be rare case presentation. Ferrari et al, reported 50 children with RMS aged less than one year at diagnosis, 15 were considered as having congenital RMS during 20 years 8. Rodriguez et al, reported four patients with neonatal RMS treated during 37 years (1962‐1999)3. Lobe et al, reported 3217 eligible patients, 14 were less than 30 days old at the time of diagnosis. Two thirds of tumors were embryonal9. 2. Case History The patient, a 40 days old male child admitted with two pedunculated masses in right axilla since birth. The child was full term, vaginal delivered at home without any natal and postnatal event to 25 year old gravida 2 para 1 mother. Antenatal care and any investigation for antenatal screening was not taken by mother. Family history for drugs, malignancy, and hereditary disease was negative. Physical examination was normal except for right axilla with two pink, nontender, pedunculated masses (6x3 cm and 9x4cm respectively), fixed to skin and freely mobile from deep structures, gradually increasing in size, overlying skin showed slough and scab formation with discharge of pus and blood. There was no regional lymphadinopathy. IJBAR (2012) 03(03)                                                    

He underwent radiological and ultrasonographic work up, the laboratory work up included complete blood count, urinalysis, electrolytes, blood urea nitrogen, creatinin level, liver function tests. The molecular biologic studies were not available. There was no abnormal finding except for imaging which showed two soft tissue masses at right axilla. Biopsy followed by histological examination showed embryonal RMS. The patient underwent surgery with complete resection of masses with safe surgical margin followed by standard chemotherapy with VAC regimen. 3. Discussion The name is derived from the Greek words ‘rhabdo’ which means rod shape, and ‘myo’ which means muscle. The term Rhabdomyosarcoma was introduced by Zenkar(1864) to indicate a tumour showing skeletal muscle cell with varying degree of differentiation and maturity10. Childhood RMS, a soft tissue malignant tumor of skeletal muscle origin, with incidence of 4.5 per million children and 50% of cases are seen in the first decade of life11. RMS may be present at birth, 1‐2% of all cases are congenital with intrauterine origin8; neonatal tumors can be diagnosed at birth or in the first 28 days. There is no racial predilection; the tumor is slightly more common in boys. www.ssjournals.com  

Case Report                                                      Patel et al   Some prenatal risk factors have been found for development of RMS. A number of inherited syndromes and genetic diseases demonstrate predisposition for developing RMS6,12. Approximately one third of RMS cases are associated with at least one congenital anomaly4,9,13,14. Chromosomal abnormality, loss of heterozygocity at the 11p15 locus is known in ERMS. Most frequently present sign is a mass present at primary site, they are head and neck (40%), genitourinary tract (29%), extremities (14%), trunk (12%), other (5%)7. Histological subtypes of RMS are embryonal (57%), Botryoid (6%), spindle cell variant(3%), alveolar (24%), undifferented (3.5%), others (6.5%)7. In our case study RMS presented as tumor masses at right axilla with embryonal histology in neonatal period, congenital in origin which was rare presentation among very few published case studies of neonatal RMS according to our knowledge. Prenatal diagnosis by magnetic resonance imaging or ultrasound can be useful. Skelton et al reported a neonate with intra oral embryonal RMS that was diagnosed on antenatal ultrasound scan14. Unfortunately in our case antenatal ultrasound scan was not carried out as mother had not taken antenatal care, but tumor masses were present since birth and progressively enlarging, so it was congenital in origin. The factors affecting prognosis include: 1) Age: age between 1-9 years has better prognosis7. According to Joshi et al age is an independent prognostic factor and age 5cm in diameter each, without metastasis, embryonal histological subtype. According to Soft Tissue Sarcoma – Children’s Oncology Group (STS-COG) Pretreatment TNM Staging of RMS it was T1bM0N0 (stage III), and by RMS Risk Group Classification from Soft Tissue Sarcoma –Children’s Oncology Group (STSCOG) it was classified as Intermediate risk group and according to Postoperative Clinical Grouping System (Intergroup RMS Study [IRS]) it was classified as group I A. According to risk Stratification and Survival Data from IRS-III AND IRS-IV chances of failure free survival is 76% and overall survival is 83% with appropriate treatment7. Optimal therapy for neonatal RMS has not been well established15. Complete surgical resection of tumor with an adequate margin of uninvolved tissue have batter prognosis. Standard chemotherapy [VAC therapy; Vincristine (V), Actinomycin D (A), Cyclophosphamide (C)] or a treatment regimen determined by risk classification have excellent response, our patent underwent complete resection with safe surgical margin followed by standard chemotherapy (VAC). Radiotherapy for newborn has not been well established it can be used in older children, but should be modified for infant or neonate because long term side effects18. References: 1. Loh M, Matthay K. Neoplasia. In: Tausch GW, Ballard RA, Gleason CA (eds). Avery's Disease of the Newborn. 8th ed. Philadelphia; Elsevier Saunders. 2005; Pp: 1460‐61. 2. Luchtman L, Jones A, Schwartz A, et al. The blood and haematopoietic system. In: Fonaroff AA, Martin RJ (eds). Diseases of www.ssjournals.com  

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