Author(s)
Elizabeth A. Borowiec, BS
Stephanie Y. Johng, MS
Earl H. Harley, MD
Affiliation(s)
Georgetown University School of Medicine;
Abstract:
Educational Objective: At the conclusion of this presentation, the participants should be able to better characterize and diagnose congenital rhabdomyosarcoma in a newborn.
Objectives: To characterize the difficult diagnostic process and treatment for a neonate presenting with extensive rhabdomyosarcoma leading to airway obstruction at the level of the oropharynx.
Study Design: Case report and review of the literature.
Methods: After consulting on this patient, a review of the literature was performed pertaining to diagnostic process and treatment modalities for neonatal rhabdomyosarcoma of the upper airway tract.
Results: Otolaryngology was consulted on a 5 hour old infant presenting with a left buccal mass and tongue deviation to the right. Imaging revealed the mass extended into the retropharyngeal, parapharyngeal, parotid and masticator spaces, facial subcutaneous layer, and lip with tongue deviation and rightward deviation and narrowing of the airway at the level of the oropharynx. The patient was intubated due to concern for mass expansion. Definitive diagnosis was challenging as several biopsy attempts were inconclusive. Differential diagnosis included infantile fibrosarcoma, myofibroma, infantile myofibromatosis, and various spindle cell neoplasms. After further clinicopathologic correlation, a diagnosis of well differentiated spindle cell rhabdomyosarcoma was reached, based on desmin positive and myogenic positive immunohistochemistry. Staged at stage 1, T1a, N0, M0 and deemed group 3 (non-resectable), the patient was enrolled in Children's Oncology Group (COG) ARST1431 clinical trial.
Conclusions: While rhabdomyosarcoma is the most common soft tissue cancer found in childhood, neonatal presentation is incredibly rare. With the paucity of literature on this subset of patients and difficulty in reaching a definitive diagnosis, we report the presentation, characteristics, and treatment regimen of congenital rhabdomyosarcoma in a 5 hour old infant.