Esophageal Leiomyoma

Updated: Jan 25, 2023
Author: Kavitha Kumbum, MD; Chief Editor: Praveen K Roy, MD, MSc 

Overview

Background

Benign tumors of the esophagus are rare lesions that constitute less than 1% of esophageal neoplasms. Nearly two thirds of benign esophageal tumors are leiomyomas; the others mostly are polyps and cysts. Thus, leiomyomas are the most common benign tumors of the esophagus.[1]

Pathophysiology

Leiomyomas represent a hyperproliferation of interlacing bundles of smooth muscle cells that are well-demarcated by adjacent tissue or by a smooth connective tissue capsule. They usually arise as intramural growths, most commonly along the distal two thirds of the esophagus. They are multiple in less than 3% of patients.[2]

The majority of leiomyomas have been discovered incidentally during evaluation for dysphagia or during autopsy. Bleeding rarely occurs in cases of benign disease but typically is observed with leiomyosarcoma, the malignant counterpart of this tumor. The potential for malignant degeneration of leiomyomas is extremely small. In the distal esophagus, leiomyomas may reach large proportions and may encroach on the cardia of the stomach.

In a retrospective review of the Cleveland Clinic pathology database, Jiang et al investigated the clinicopathologic features of esophageal leiomyomas. Analyzing 30 cases from 28 patients, the investigators found mean tumor sizes among symptomatic and asymptomatic patients to be 5.2 cm and 0.4 cm, respectively. In symptomatic patients, the most common complaint was dysphagia (71.4%). The majority of esophageal leiomyomas (69%) were found in the distal and middle thirds of the esophagus, with most (69.6%) developing from the muscularis propria layer. For the most part, the tumors were made up of bland spindle cells with low cellularity and lacked both nuclear atypia and mitotic activity; cells were found to be positive for smooth muscle actin and negative for the CD34 and CD117 proteins. Among the 22 patients (78.6%) for whom follow-up information was available, no leiomyoma-related adverse events were found.[1]

Epidemiology

Incidence

Esophageal leiomyomas comprise approximately 0.4% of all esophageal neoplasms.[3]

Age-, sex-, and race-related demographics

Esophageal leiomyomas typically occur in individuals aged 20-50 years; the male-to-female ratio is approximately 2:1.[4]

No known race predilection is recognized.

 

Presentation

History and Physical Examination

History

Esophageal leiomyomas rarely cause symptoms when they are smaller than 5 cm in diameter. Large tumors can cause dysphagia, vague retrosternal discomfort, chest pain, esophageal obstruction, and regurgitation. Rarely, they can cause gastrointestinal bleeding, with erosion through the mucosa.

Physical examination

Other than the nonspecific symptoms associated with esophageal leiomyomas, very few physical findings are ever noted. In extremely rare cases where severe esophageal obstruction is caused by a leiomyoma, weight loss and muscle wasting may be observed.

 

DDx

Diagnostic Considerations

Calcification may occur within a leiomyoma; this must be considered in the differential diagnosis of a calcified mediastinal mass.

Leiomyomatosis is a variation of leiomyoma in which multiple leiomyomas develop throughout the length of the esophagus and can be associated with Alport's syndrome.[5] An association also exists between esophageal leiomyomas and MEN type 1,[6] and case reports exist of leiomyomatosis presenting as pseudoachalasia.[7]

Differential Diagnoses

Workup
 

Workup

Imaging Studies

Esophageal leiomyoma can be visualized using barium swallow. The classic appearance is a smooth concave mass underlying intact mucosa. Distinct sharp angles are seen at the junction of the tumor and normal tissue. Encroachment onto the esophageal lumen usually is observed.

Esophageal ultrasonography can be helpful in demonstrating a smooth, typically round, mass located in the muscularis without encroachment into the overlying mucosa or underlying adventitia.

Esophagoscopy may reveal a nonspecific tumor in the wall of the esophagus, typically without mucosal involvement (ulceration or erosion).

Procedures

Upon endoscopy, the lesions are identified as mobile submucosal masses.

Esophagoscopy should be performed to rule out carcinoma. It is important to remember that if a leiomyoma is suspected at esophagoscopy, a biopsy should not be performed if it would cause scarring at the biopsy site, which would hamper definitive extramucosal resection at surgery. A brush cytology may be performed. A leiomyoma (especially an ulcerated one) routinely is biopsied through the endoscope without any problems occurring in the ability to resect at a later date. In fact, an ulcer in a leiomyoma may be considered much worse than a mucosal biopsy.

Esophageal ultrasonography has aided in the diagnosis of leiomyomas, which demonstrate a homogeneous region of hypoechogenicity juxtaposed with the overlying mucosa.

Endoscopic ultrasonography is a useful technique for diagnosing and reaching treatment decisions for esophageal leiomyoma.[8]

Histologic Findings

Histologically, the tumors are comprised of bundles of interlacing smooth muscle cells, well-demarcated by adjacent tissue or by a definitive connective tissue capsule. They are composed of fascicles of spindle cells that tend to intersect with each other at varying angles. The tumor cells have blunt-ended elongated nuclei and show minimal atypia with few mitotic figures.

 

Treatment

Surgical Care

Asymptomatic or smaller lesions should be followed periodically with barium swallow. Surgical excision is recommended for symptomatic leiomyomas and those greater than 5 cm. Consultation with a thoracic surgeon may be beneficial.

Resection is the only way to confirm that a tumor is not malignant. Periodic follow-up of smaller lesions is recommended because leiomyomas have a characteristic radiographic appearance, slow growth rate, and low risk of malignant degeneration. Tumors of the middle third of the esophagus are approached using a right thoracotomy; tumors in the distal third of the esophagus are resected through a left thoracotomy.

The outer esophageal muscle is gently incised longitudinally in order to reveal the lesion. Careful dissection is performed to separate and remove the leiomyoma from the underlying submucosa.

If the mucosa has been opened during dissection, the underlying mucosa is reapproximated, followed by closure of the longitudinal muscle. Some authors have shown that large extramucosal defects may be left open without subsequent complications developing.

Segmental esophageal resection may be indicated for giant leiomyomas of the cardia.

While open surgical technique is the traditional mainstay of therapy for leiomyomas, combined esophagoscopy and video-assisted resection (thoracoscopy), laparoscopic transhiatal resection, and robotic techniques are being increasingly performed.[9, 10, 11, 12, 13, 14]

Tu el al evaluated the safety and efficacy of submucosal tunnel endoscopic resection (STER) for esophageal submucosal tumors. The study involved 115 patients who underwent successful resection for esophageal submucosal tumors (113 cases [95.0%] of leiomyoma) by STER. There were no cases of recurrence and distant metastasis during the mean 15-month follow-up. The investigators concluded STER is a safe and feasible technique for treating esophageal submucosal tumors and that it has advantages over endoscopic submucosal dissection (ESD).[14]

Following complete surgical resection, no recurrence has ever been reported.