Alveolar Rhabdomyosarcoma of the Neck in a Two-Months-Old Baby: Diagnostic Challenges
Alveolar Rhabdomyosarcoma in an Infant
Vol. 14 No. 1 : 2019 (228-233)
Abstract
Rhabdomyosarcoma (RMS) is the most common soft tissue malignancy in children and adolescents. The rarity of its occurrence in infant poses a great difficulty in terms of diagnosis and management. Here, we report an aggressive case of alveolar rhabdomyosarcoma in an infant who presented with neck swelling and neurological complications. The Magnetic Resonance Imaging (MRI) revealed a soft tissue swelling of the neck with intraspinal extension and spinal cord compression, raising the possibility of a neurogenic or malignant nerve sheath tumour. Histopathological examination revealed a primitive, small round cell tumour with no rhabdoid differentiation. The clinical presentation, neurological symptoms, tumor location and the histopathologic features were highly suggestive of neuroblastoma. However, the tumour cells were positive for desmin with focal and weak nuclear positivity for myogenin and MyoD1; immunoexpressions which were in favour of rhabdomyosarcoma. Fluorescent in situ hybridization (FISH) confirmed the presence of a translocation t(2;13)(q35;q14), supporting the diagnosis of alveolar rhabdomyosarcoma. Despite chemotherapy, patient succumbed to death after two months due to septic shock. Rhabdomyosarcoma is highly aggressive mesenchymal neoplasm which may present with diagnostic difficulty. This case highlights the importance of molecular studies in making an accurate diagnosis so that appropriate chemotherapy may be instituted.
Keywords :
alveolar,
FISH,
infant,
rhabdomyosarcoma,
Correspondance Address
Dr. Nordashima Abd Shukor. Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif, Bandar Tun Razak, 56000 Cheras, Kuala Lumpur, Malaysia. Tel: +603-9145 5365 Email: nordashima@ppukm.ukm.edu.my
References
Chu, W.P. 2013. Anterior mediastinal alveolar rhabdomyosarcoma in an infant: rare site for a
common paediatric tumour. Hong Kong Med J 19(5): 458-9.
Dagher, R., Helman, L. 1999. Rhabdomyosarcoma: An overview. Oncologist 4(1): 34-44.
Eguía-Aguilar, P., López-Martínez, B., Retana-Contreras, C., Perezpena-Diazconti, M. 2016. Alveolar rhabdomyosarcoma: origin and prognostic implications from molecular findings. Bol Med Hosp Infant Mex 73(6): 405-10.
El Nadi, E., Moussa, E. A., Zekri, W., Taha, H., Yones, A., Zaghloul, M. S., El Wakeel, M., Labib, R. M. 2013. Outcome of rhabdomyosarcoma in first year of life: children’s cancer hospital 57357 Egypt. Sarcoma 2013: 439213.
Marshall, A.D., Grosveld, G.C. 2012. Alveolar rhabdomyosarcoma-the molecular drivers of PAX3/7-FOXO1-induced tumorigenesis. Skelet Muscle 2(1): 25.
Parham, D.M., Ellison, D. 2006. Rhabdomyosarcomas in adults and children: an update. Arch Pathol Lab Med 130(1): 1454-65.
Pinto, A., Dickman, P., Parham, D. 2011. Pathobiologic markers of the ewing sarcoma family of tumors: state of the art and prediction of behaviour. Sarcoma 2011: 856190.
Reshma, V., Kavita, R., Priya, N.S., Umadevi, H.S., Mohsin, G., Sreelatha, H. 2013. Small round cell tumor of the head and neck region: a review. Int J Oral Maxillofac Pathol 4(2): 24-33.
Sameer, A., Omar, K., Manalang, M., Weatherly, R. 2017. Clinical manisfestations of neuroblastoma with head and neck involving in children. Int J Pediatr Otorhinolaryngol 97(2017): 157-62.
Vankalakunti, M., Das, A., Rao, N.K. 2006. Postauricular congenital alveolar rhabdomyosarcoma - a case report of an unusual entity. Diagn Pathol 1: 37.
