What is true regarding leiomyoma (a type of benign tumor) of the esophagus (oesophagus)?

Characteristics of Esophageal Leiomyoma

Esophageal leiomyoma commonly presents with dysphagia, is typically solitary, occurs more frequently in the lower third of the esophagus, and is not usually diagnosed with endoscopic biopsy alone. 1

Epidemiology and Presentation

• Leiomyomas are the most common benign tumors of the esophagus, accounting for approximately 4% of all esophageal tumors 2
• They are more common in males than females 1, 3
• Typically present as solitary lesions rather than multiple tumors 3
• Most commonly located in the middle or lower third of the esophagus 3
• Dysphagia is the most common presenting symptom, especially when tumors exceed 5 cm in size 4, 3
• Other symptoms may include:
  • Epigastric pain 4
  • Occasional dyspnea (in cases of large tumors causing compression) 5
  • Vomiting 3
  • Weight loss in some cases 5

Diagnostic Approach

• Endoscopic ultrasound (EUS) with fine needle aspiration/biopsy (FNA/FNB) is the preferred diagnostic method for subepithelial lesions 1
• On EUS, leiomyomas appear as hypoechoic, well-circumscribed masses arising from either:
  • Muscularis propria (4th layer)
  • Muscularis mucosae (2nd layer) 6
• Standard endoscopic biopsy is usually inadequate for diagnosis as leiomyomas are submucosal/intramural tumors 1
• Histological diagnosis requires specialized tissue sampling techniques:
  • Immunohistochemistry shows positive staining for smooth muscle actin and desmin
  • Negative staining for CD117, CD34, and S100 (distinguishing from GISTs) 1

Management

• Asymptomatic leiomyomas <5 cm: observation is recommended 1
• Symptomatic or >5 cm leiomyomas: surgical enucleation is indicated 1, 4
• Surgical approach depends on tumor location:
  • Upper/middle third: right-sided video-assisted thoracoscopic surgery (VATS)
  • Lower third: left-sided VATS or laparoscopic approach 1
• For giant leiomyomas (>10 cm), more extensive surgery may be required:
  • Esophagectomy may be necessary in cases with large defects after enucleation 5

Clinical Pearls and Pitfalls

• Differentiation from gastrointestinal stromal tumors (GISTs) is crucial as management differs significantly 1
• Leiomyomas are true smooth muscle tumors and are benign, while GISTs have malignant potential 6, 1
• Even asymptomatic leiomyomas should be monitored with periodic endoscopic surveillance 1
• Surgical enucleation without opening the mucosa is preferred when possible, as it is easier, faster, and safer compared to resection 4

In summary, esophageal leiomyomas are characterized by their presentation with dysphagia, solitary nature, predominant location in the lower esophagus, and requirement for specialized diagnostic techniques beyond standard endoscopic biopsy.