Melena, Dyspnea, and Dysphagia in a Cancer Survivor

Question: A 68-year-old woman with medical comorbidities including coronary artery disease, hypertension, hyperlipidemia, right breast cancer status post resection and radiation, double mastectomy, and remote history of lymphoma in her teens was admitted to the hospital after presenting with melena, progressive dyspnea on exertion, and weakness. The patient has been on the antineoplastic anastrozole for 5 years and denied nonsteroidal anti-inflammatory drug use outside of her daily 325 mg aspirin. She quit smoking 35 years ago and does not drink alcohol. In addition, over the past month, she has had progressive dysphagia with solids greater than liquids with associated 13 pounds of unintentional weight loss owing to decreased oral intake. She denied abdominal pain, emesis, fevers, night sweats, orthopnea, paroxysmal nocturnal dyspnea, and chest pain. Initial laboratory evaluation (reference ranges in parenthesis) was significant for a hemoglobin of 8.6 g/dL (11.6–15.0 g/dL), a leukocytosis of 12.0 × 109/L (3.4–9.6 × 109/L) , a mild thrombocytosis of 378 × 109/L (157–371 × 109/L), an elevated blood urea nitrogen/creatinine ratio of 34, C-reactive protein of 10.3 mg/L (≤8.0 mg/L), and a erythrocyte sedimentation rate of 120 mm/h (<29 mm/h). A computed tomography scan of the chest showed no consolidation, but noted a large, mass-like lesion filling the majority of the esophagus. It extended from the thoracic inlet to the gastroesophageal junction over a craniocaudal length of 15.7 cm and 2.6 × 2.2 cm depicted in transverse (Figure A) and sagittal (Figure B) planes. A computed tomography scan of the abdomen and pelvis were unremarkable. Esophagogastroduodenoscopy (EGD) demonstrated the hypopharynx (Figure C), mid-esophagus (Figure D), and retroflexed view of the fundus and gastroesophageal junction (Figure E). What is the most likely diagnosis? See the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI. A large, pedunculated mass was found initiating at the level of the hypopharynx off the right arytenoid, extending through the entire length of the esophagus, and protruding through the gastroesophageal junction (Figure C–E). The lesion was causing partial obstruction of the esophagus. There was no active bleeding, but stigmata of recent bleeding was seen at the gastric portion of the lesion, likely from the mass prolapsing through the esophageal hiatus. Otolaryngology resected the mass measuring about 15 cm (Figure F) through a transcervical approach. Histology revealed fibroadipose tissue with atypical, hyperchromatic stromal cells scattered throughout (Figure G), which were positive for smooth muscle actin. There was also amplification of the MDM2 gene region, demonstrated by the color red on fluorescent in situ hybridization analysis (Figure H), frequently identified in well-differentiated liposarcoma. Primary esophageal liposarcomas are rare, pedunculated, intraluminal lesions that usually arise from the cervical esophagus and account for 0.5% of all esophageal malignancies.1Valiuddin H.M. Barbetta A. Mungo B. et al.Esophageal liposarcoma: Well-differentiated rhabdomyomatous type.World J Gastrointest Oncol. 2016; 8: 835-839Crossref PubMed Scopus (8) Google Scholar The literature is limited to case series of <50 patients, demonstrating the well-differentiated type as the most prevalent esophageal liposarcoma. Often, patients are male and middle aged.2Dowli A. Mattar A. Mashimo H. et al.A pedunculated giant esophageal liposarcoma: a case report and literature review.J Gastrointest Surg. 2014; 18: 2208-2213Crossref PubMed Scopus (10) Google Scholar As the tumor is pulled down the esophageal lumen with swallowing and peristalsis, it grows in length and most patients develop dysphagia.2Dowli A. Mattar A. Mashimo H. et al.A pedunculated giant esophageal liposarcoma: a case report and literature review.J Gastrointest Surg. 2014; 18: 2208-2213Crossref PubMed Scopus (10) Google Scholar Diagnosis is difficult by biopsy and often requires surgical specimens to rule out liposarcoma. The diagnosis can be made by observing MDM2 amplification using fluorescent in situ hybridization, which has frequently been identified in atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma.3Fletcher C.D.M. Bridge J.A. Hogendoorn P.C.W. Mertens F. WHO classification of tumours of soft tissue and bone.4th ed. Volume 5. IARC Press, Lyon2013Google Scholar A diagnosis of giant fibrovascular polyp should be made cautiously only after ruling out liposarcoma. These masses can be life threatening owing to the risk of asphyxiation by it refluxing from the esophagus into the trachea; therefore, removal should be performed in all cases. Although endoscopic approaches may result in lower morbidity, surgical approaches are more common owing to the usually highly vascular nature of the tumor.1Valiuddin H.M. Barbetta A. Mungo B. et al.Esophageal liposarcoma: Well-differentiated rhabdomyomatous type.World J Gastrointest Oncol. 2016; 8: 835-839Crossref PubMed Scopus (8) Google Scholar Patients should be monitored long term because there is potential for recurrence.