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WHO Classification of Tumours
Leiomyoma, NOS


Leiomyoma is a well-circumscribed benign smooth muscle neoplasm histologically characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.

In the oesophagus, leiomyoma is the most common mesenchymal tumour and occurs over a wide range of ages from childhood onwards and is twice as frequent in males as in females

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Bosman FT, Carneiro F, Hruban RH, Theise ND (Eds.)
WHO Classification of Tumours of the Digestive System.
4th Edition
International Agency for Research on Cancer: Lyon 2010

. Leiomyomas are typically located in the distal to middle oesophagus and often manifest as dysphagia. The tumour varies from a minimal intramural nodule to a larger mural nodule to an externally extending ediastinal mass, but most are 1–3cm in size
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Hatch GF, Wertheimer-Hatch L, Hatch KF, Davis GB, Blanchard DK, Foster RS, Skandalakis JE (2000)
Tumors of the esophagus.
World J Surg 24: 401-11

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Miettinen M, Sarlomo-Rikala M, Sobin LH, Lasota J (2000)
Esophageal stromal tumors: a clinicopathologic, immunohistochemical, and molecular genetic study of 17 cases and comparison with esophageal leiomyomas and leiomyosarcomas.
Am J Surg Pathol 24: 211-22

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Seremetis MG, Lyons WS, deGuzman VC, Peabody JW (1976)
Leiomyomata of the esophagus. An analysis of 838 cases.
Cancer 38: 2166-77


> Alport syndrome
Childhood (and adult) cases include patients with familial Alport syndrome who, in addition to renal glomerular disease, may have longitudinally extending complex intramural oesophageal leiomyomas, often referred to as “leiomyomatosis”. This syndrome is caused by germline deletions in the collagen IV subunit genes, among them COL4A5and COL4A6, found at chromosome Xq22

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Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould JD, Leppig KA, Proesmans W, Guyot C, Guillot M (1995)
Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.
Hum Mol Genet 4: 99-108

. For forms of leiomyomatosis that involve these genes, inheritance is X-linked, causing a more severe syndromic phenotype in men . Somatic deletions in the same genes have been idenitifed in sporadic leiomyomas, suggesting a common pathogenesis
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Heidet L, Boye E, Cai Y, Sado Y, Zhang X, Fléjou JF, Fékété F, Ninomiya Y, Gubler MC, Antignac C (1998)
Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus.
Am J Pathol 152: 673-8