Published: 2020-06-25

Rhabdomyosarcoma of lip - issues of subtyping, morphology and immunohistochemistry versus molecular studies: a case report with review of literature

Leon Alexander, Hiran Kattilaparambil Ravindran, Juliet George


Rhabdomyosarcoma (RMS) is a malignant soft tissue tumour occurring most frequently in younger age groups. Study presented a rare case of spindle cell Rhabdomyosarcoma of the upper lip involving the commissure area. In this case report after successful surgical excision, the patient underwent extensive postoperative histopathological studies including special stains and immunohistochemistry. Genotype studies (reverse transcription polymerase chain reaction) were done to help in subtyping and prognostication, and it turned out to be a surprise as it showed positivity for PAX3-FOXO1 t (2;13) translocation which is almost exclusively seen with alveolar RMS. After that he successfully underwent chemotherapy and radiotherapy as it was an aggressive variant and has been disease free for the past 2 years. The author hopes that this case report will highlight the importance of high clinical suspicion in head and neck masses presenting in pediatric age group and to not rely solely on biopsy reports to confirm diagnosis, so that early detection will lead to successful therapy and outcome as exemplified in this case.    


Alveolar rhabdomyosarcoma, Chemotherapy, Lip, Radiotherapy, Surgical excision, Spindle cell rhabdomyosarcoma

Full Text:



Rudzinski ER, Anderson JR, Hawkins DS, Skapek SX, Parham DM, Teot LA. The World Health Organization classification of skeletal muscle tumors in pediatric rhabdomyosarcoma: a report from the children's oncology group. Arch Pathol Lab Med. 2015;139(10):1281-7.

Andrade CR, Junior AT, Nishimoto IN, Kowalski LP, Lopes MA. Rhabdomyosarcoma of the head and neck: a clinic-pathological and immuno histochemical analysis of 29 cases. Braz Dent J. 2010;21(1):68-73.

Parham DM, Ellison DA. Rhabdomyosarcomas in adults and children: an update. Arch Pathol Lab Med. 2006;130(10):1454-65.

Martorell M, Ortiz CM, Garcia JA. Testicular fusocellular rhabdomyosarcoma as a metastasis of elbow sclerosing rhabdomyosarcoma; a clinicopathologic, immunohistochemical and molecular study of one case. Diagn Pathol. 2010;5:52.

Matsumura T, Yamaguchi T, Sekhi K. Advantage of FISH analysis using FKHR probes for an adjunct to diagnosis of rhabdomyosarcomas, Virchows Arch. 2008;452:251-8.

Vadgama B, Sebire NJ, Malone M. Sclerosing rhabdomyosarcomas in childhood: case report and review of the literature. Pediatr Dev Pathol. 2004;7:391-6.

Maurer HM, Beltangady M, Gehan EA, Crist W, Hammond D, Hays DM, et al. The intergroup Rhabdomyosarcoma study-I a final report. Cancer. 1988;61:209-20.

Peters E, Cohen M, Altini M, Murray J. Rhabdomyosarcoma of the oral and paraoral region. Cancer. 1989;63:963-6.

Chi AC, Barnes JD, Budnick S, Agresta SV, Neville B. Rhabdomyosarcoma of the maxillary gingiva. J Periodontol. 2007;78:1839-45.

Cavazzana AO, Schmidt D, Ninfo V. Spindle cell rhabdomyosarcoma, a prognostically favorable variant of rhabdomyosarcoma. Am J Surg Pathol. 1992;16:229-35.

Leuschner I, Newton WA, Schmidt D. Spindle cell variants of embryonal rhabdomyosarcoma in the paratesticular region a report of the intergroup Rhabdomyosarcoma study. Am J Surg Pathol. 1993;17:221-30.

Sorensen PH, Lynch JC, Qualman SJ. PAX3-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children’s oncology group. J Clin Oncol. 2002;20:2672-9.

Parviz D, Saeideh K. Oral rhabdomyosarcoma: a case report. J Clin Exp Pathol. 2014;4:161.

Pavithran K, Doval DC, Mukherjee G, Kannan V, Kumaraswamy SV, Bapsy P. Rhabdomyosarcoma of the oral cavity report of eight cases. Acta Oncologica. 1997;36:819-21.