MedStar Georgetown University Hospital Washington, DC
Krystina A. Johnson, MD, Bryan S. Stone, DO, Camille H. Boustani, MD, Obada M. Tabbaa, MD, John E. Carroll, MD; MedStar Georgetown University Hospital, Washington, DC
Introduction: Rhabdomyosarcoma (RMS) is a well-known neoplasm in the pediatric population. Pleomorphic RMS (PRMS) is an aggressive histological subtype of sarcoma that mainly affects adults; however, little is known regarding the etiology and genetic profile due to its rarity. We present a case in a patient with progressive dysphagia and hematemesis, found to have PRMS invasion of the esophagus.
Methods: A 79-year-old male with a history of locally advanced melanoma presented with a two-week history of dysphagia and hematemesis. The patient was first diagnosed with a left heel melanoma in 2017. He was treated with immunotherapy and remained on maintenance nivolumab due to concerns for lung metastases. Three months prior to presentation, a surveillance CT scan revealed an incidental distal esophageal mass. Endoscopic ultrasound (EUS) confirmed a 5 cm submucosal lesion with normal appearing overlying mucosa, suggestive of a stromal tumor, yet FNA was inconclusive. Over the following three months, he developed worsening dysphagia and was admitted with hematemesis. Chest CT Angiography (Figure 1) revealed significant enlargement of the known esophageal mass, more than doubling in size in just three months to 11 cm, and now causing severe compression of the left atrium and inferior pulmonary veins. On endoscopy (Figure 2), the esophageal lumen was near completely occluded with severely friable tissue, producing a 10 cm long circumferential stricture. The tissue had the appearance of complete esophageal wall invasion with obliteration of the mucosa from a malignant mass. EUS (Figure 3) showed a nonspecific appearing irregular heterogenous appearing mass, with obliteration of all identifiable wall layers. Biopsy of the abnormal tissue and FNA of the circumferential mass revealed a malignant anaplastic spindle cell tumor positive for EMA, desmin, smooth muscle actin and myosin confirming a diagnosis of PRMS. The patient received a palliative esophageal stent, and was deemed not a candidate for radiation, surgery, or systemic chemotherapy.
Discussion: PRMS is an exceedingly rare malignancy, accounting for less than one percent of all adult cancers. PRMS predominantly arises in the musculoskeletal tissues of patients, particularly in their extremities. However, very few cases of primary esophageal PRMS have been described in the literature. Evidence based treatment options are limited given the rarity and complexity of the disease; thus, warranting further research and newer therapies in the future.
CT Chest demonstrating a large (7.3 anteroposterior x 8.6 transverse x 11.3cm craniocaudal) mid-esophageal neoplasm, causing severe compression of the left atrium, inferior pulmonary veins, descending aorta, and proximal aspects of the bilateral main-stem bronchi. The mass obstructs the proximal portion of the esophagus which is filled and partially distended with fluid and debris.
Near complete occlusion of the esophageal lumen, with circumferential denuded, friable and malignant appearing tissue. The narrowed area was passed with standard endoscopy with difficulty, and biopsies taken of the friable tissue.
Scanning by the radial EUS scope showed an irregular heterogenous appearing mass, with obliteration of wall layers. Multiple FNA passes were made of the proximal portion of the mass.
Disclosures: Krystina Johnson indicated no relevant financial relationships. Bryan Stone indicated no relevant financial relationships. Camille Boustani indicated no relevant financial relationships. Obada Tabbaa indicated no relevant financial relationships. John Carroll indicated no relevant financial relationships.