Multiple giant leiomyomas of the esophagus and stomach

Abstract

Leiomyomas are rare esophageal disorders, although among the benign esophageal neoplasms, they are the most common. Multiple leiomyomas are distinguished from esophageal leiomyomatosis, an extremely rare condition, which is associated with Alport syndrome, showing deletions and rearrangements of the COL4A5/COL4A6 gene. There are only a few reports of diffuse multilocular lesions. A 19-year-old man presented with upper gastrointestinal bleeding and diffuse abdominal pain. On endoscopy multiple nodules covered with intact mucosa were present, the largest tumor arising from the gastro-esophageal border infiltrating the cardia. Barium swallow demonstrated narrowing of the middle and lower esophagus with the upper third of the stomach filled by the tumor. Thorax and abdominal CT scans revealed infiltration of almost the total aboral esophagus by the tumor with compression of left and right bronchi. The infiltration reached the whole lesser curvature of the stomach. Endosonography showed multiple encapsulated nodules. Due to the extended tumor growth with infiltration of the upper third of the stomach, a total esophago-gastrectomy with reconstruction by colon interposition was performed. On histopathological examination multiple esophageal leiomyomas with infiltration of the proximal third of the stomach was shown. Immunohistochemically the tumor stained positive for desmin and sm-actin and negative for CD34 and c-kit. Genetic analysis ruled out a deletion of the COL4A5/COL4A6 locus on chromosome X that is linked with Alport syndrome-diffuse leiomyomatosis. Extended mutations in the COL4A5 gene, associated with Alport syndrome, to the COL4A6 gene, are required for the development of leiomyomatosis. In young patients with diffuse multinodular infiltration by encapsulated tumors, esophageal leiomyomatosis should be considered. If the proximal third of the stomach is infiltrated by the tumor an extended resection is necessary. Reconstruction procedures include colon interposition.

Diffuse oesophageal leiomyomatosis

“…Oesophageal leiomyomatosis typically presents in children and young adults and is slightly more common in men . Dysphagia and pain, as in our patient, are the most common presenting symptoms followed by weight loss, nausea and vomiting . Less frequent symptoms include recurrent pneumonia, respiratory symptoms and dyspnoea.…”

“…Oesophageal leiomyomatosis may occur sporadically or on a hereditary basis with autosomal dominant inheritance. 1,2 It may also have an association with other gastrointestinal leiomyomata (particularly small intestine and rectal) along with widespread visceral leiomyomatatosis, tracheobronchial lesions and genital lesions in women, including clitoral hypertrophy and vulval leiomyomatosis, which constitutes the oesophagovulvar syndrome. 3,4 Oesophageal leiomyomatosis typically presents in children and young adults and is slightly more common in men.…”

“…Giant oesophageal leiomyomas are rare benign neoplasms accounting for 0.4% of all oesophageal tumours. Diffuse leiomyomatosis is an even rarer entity among oesophageal diseases, with only approximately 40 cases reported in the literature . In contrast to a leiomyoma, which typically comprises a discrete tumour nodule, leiomyomatosis is characterized histopathologically by diffuse hypertrophy of the muscular layer.…”

“…Less frequent symptoms include recurrent pneumonia, respiratory symptoms and dyspnoea. Up to 50% of patients are asymptomatic at the time of diagnosis and are discovered incidentally, typically on a CXR, for another indication . Partial or subtotal oesophageal resection is recommended, as in this case, as these tumours are often very large .…”

Esophageal resection for giant leiomyoma: report of two cases and a review of the literature

“…Leiomyomas are slow growing intramural tumors usually located in the middle and lower part of the esophagus [1]. In general, they are single lesions, but sometimes, multiple tumors are present [3]. Even a diffuse leiomyomatosis of the esophagus has been described [4].…”