What are the typical presentation and diagnostic approach for leiomyoma of the esophagus?

Esophageal Leiomyoma: Characteristics and Management

Esophageal leiomyoma commonly presents with dysphagia and is typically located in the lower one-third of the esophagus as a solitary lesion, with endoscopic ultrasound being the preferred diagnostic method rather than endoscopic biopsy. 1, 2

Key Characteristics of Esophageal Leiomyoma

Epidemiology and Presentation

• Most common benign tumor of the esophagus 3
• More common in males than females 3
• Usually presents as a solitary lesion rather than multiple tumors 2
• Predominantly located in the middle or lower third of the esophagus 2

Clinical Presentation

• Approximately 51% of patients are symptomatic 3
• Dysphagia is the most common presenting symptom 4, 2
• Other symptoms may include:
  • Epigastric pain 4
  • Occasional dyspnea 4
  • Vomiting 2
• Smaller tumors are often asymptomatic and may be incidental findings 5

Diagnostic Approach

Imaging and Endoscopy

• Endoscopic ultrasound (EUS) is the primary diagnostic method 1, 5
  • On EUS, leiomyomas appear as hypoechoic, well-circumscribed masses
  • They arise from either the muscularis mucosae or muscularis propria (layers 2,3, or 4) 1
• Endoscopic biopsy is generally not recommended as the primary diagnostic tool because:
  • Leiomyomas are subepithelial lesions, making standard biopsies ineffective
  • Preoperative endoscopic mucosal biopsy increases the risk of mucosal injury during subsequent surgical resection 3
  • The tumor is covered by normal mucosa, making diagnosis by standard biopsy difficult

Differential Diagnosis

• Must be differentiated from gastrointestinal stromal tumors (GISTs) 1, 6
• Immunohistochemistry is crucial for definitive diagnosis:
  • Leiomyomas: positive for smooth muscle actin and desmin
  • Leiomyomas: negative for CD117, CD34, and S100 protein 1, 6

Management Approach

Indications for Treatment

• Symptomatic leiomyomas (especially those causing dysphagia)
• Large leiomyomas (typically >5 cm) 4, 5
• Small, asymptomatic lesions may be managed with observation and regular follow-up 5, 3

Surgical Options

• Enucleation is the preferred surgical approach whenever possible 2
  • Less invasive than esophagectomy
  • Associated with lower morbidity and mortality
• Surgical approach depends on tumor location:
  • Middle/upper third: right thoracotomy or thoracoscopic approach 2
  • Lower third: transhiatal approach or laparoscopy 4
• Minimally invasive surgery (thoracoscopic approach) is increasingly becoming the standard treatment 3
  • Shorter hospital stay (8.0 days vs. 10.3 days for open surgery)
  • Comparable outcomes to open surgery

Pitfalls and Caveats

• Small tumors (<1.5 cm) may be difficult to localize during thoracoscopic surgery 3
• Preoperative endoscopic biopsy within 1 month of surgery increases risk of mucosal injury during resection 3
• Esophageal resection should be reserved for cases where enucleation is not feasible 2

By understanding these characteristics and following appropriate diagnostic and management approaches, optimal outcomes can be achieved for patients with esophageal leiomyomas.