Multifocal granular cell tumor presenting as an esophageal stricture

Granular cell tumors are uncommonly found in the gastrointestinal tract with slow progression and are usually benign though they may have propensity for malignant transformation. Initially attributed to neuronal origin through immunohistochemistry, there has been controversy with increasing reports of granular cell tumors of non-neural origin.

We report a case of multifocal granular cell tumor involving the esophagus and stomach in a young female with history of dysphagia for 9 years with worsening symptoms. She had been managed at another facility with repeated dilations for presumed benign peptic stricture. Radial endosonography (EUS) of the proximal end of stricture showed a posterior submucosal esophageal mass that was heterogeneous and invaded into the muscularis propria. Fine-needle aspiration (FNA) showed large cells with granular cytoplasm along with spindle nuclei. Cells were initially checked for CD117 stain alone and found to be negative. A follow-up CT-guided core needle biopsy revealed similar granular cells that were positive for S-100. She underwent a two-stage transhiatal esophagogastrectomy as the tumor circumferentially involved the cervical esophagus and was adherent to the trachea and recurrent laryngeal nerve bilaterally. At surgery, there were two additional foci palpable in the proximal stomach.

As these tumors may have potential for malignant transformation and locoregional invasion, they should be considered while evaluating submucosal lesions of the esophagus even in young patients. A large number of granular cell tumors may be missed in the absence of S-100 staining, which should be requested when granular cells are seen on cytology obtained by EUS FNA as this can be a minimally invasive diagnostic modality for these tumors. Other foci should be sought at surgery as they have a propensity for locoregional spread.