Esophageal rhabdomyoma: A rare cause of esophageal dysphagia

Document Type

Conference Proceeding

Publication Date


Publication Title

Am J Gastroenterol


Introduction: Adult esophageal rhabdomyoma (AER) is a benign tumors of a striated muscle origin. AER is considered extremely rare and may not cause any symptoms or present with progressive neck swelling and dysphagia. We present a case of a middle-aged man who was referred to us for evaluation of dysphagia. Case Description/Methods: A 57-year-old man presented to us as a referral for evaluation of esophageal dysphagia. Upper endoscopy (EGD) was preformed and showed a large, submucosal mass in the upper third of the esophagus and in the middle third of the esophagus, extending from 18 cm to 25 cm from the incisors. The mass was non-obstructing, partially circumferential (involving onehalf of the lumen circumference) (Figure 1, panel A). Endoscopic ultrasound (EUS) showed a welldefined, oval intramural (subepithelial) lesion in the cervical esophagus and in the thoracic esophagus. It was encountered at 16 cm from the incisors and extended to 25 cm. The lesion was hypoechoic and avascular. Sonographically, the origin appeared to be within the layer 4, muscularis propria (Figure 1, panel B). Fine needle aspiration and biopsy was performed. Cytology report revealed the presence of abnormal cells consistent with a skeletal muscle neoplasm. Pathological evaluation of the biopsy confirmed the diagnosis of adult esophageal rhabdomyoma (Figure 1, panel C). Discussion: Adult rhabdomyomas (AR) commonly present with slow and progressively enlarging soft tissue mass of the head and neck region. AR have a predilection to affect men more commonly than women with a median age of 55-60. Esophageal AR are extremely rare with few reported cases in the literature. Differential diagnosis for AR depends on the location and includes granular cell tumors, sarcomas, paragangliomas, and vascular tumors. Imaging typically reveals homogenously enhancing soft tissue mass in the affected region with benign features including lack of invasion of surrounding tissues. Pathologically, AR is characterized by well-circumscribed, not-encapsulated, sheets of large ovoid or polygonal cells with eosinophilic cytoplasm with frequent cross striations and intracytoplasmic rod-like inclusions. Nuclei are small, round, and vesicular. They typically have no mitotic activity or atypia. Treatment typically involves surgical resection as AR is typically wellcircumscribed. A recurrence rate between 16% to 42% has been reported in the literature. Malignant transformation has not been reported previously.

PubMed ID

Not assigned.





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