Familial oesophageal leiomyomatosis and nephropathy

Lonsdale, Ray; Roberts, P. A.; Vaughan, R. S.; Thiru, S

doi:10.1111/j.1365-2559.1992.tb00941.x

Cited by 52 publications

(44 citation statements)

References 22 publications

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“…Although there were multiple myomatous nodules, they were confluent but should be differentiated from the multiple esophageal leiomyomatosis which presents with multiple separate nodules that can be shelled out individually. Diffuse esophageal leiomyomatosis may be associated with Alport’s syndrome (cataract, deafness and hematuria), and familial leiomyomatosis of the esophagus is believed to be dominantly inherited [13, 14, 17, 18, 22]. Our patient had multiple confluent myomatous nodules similar to that which Kabuto et al [3]reported as diffuse leiomyomatosis of the esophagus.…”

Section: Discussionsupporting

confidence: 64%

Diffuse Leiomyomatosis of the Esophagus

Cheng¹,

Hsu²,

Hsu³

et al. 2000

Dig Surg

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Background: Leiomyomas are rare esophagus neoplasms. They are usually solitary, and the diffuse lesion is extremely rare. Case Report: A 19-year-old male presented with a 3-year history of occasional dysphagia and postprandial regurgitation. The chest radiographs showed a huge mass in the posterior mediastinum. Barium esophagograms showed narrowing of the middle third esophagus with proximal dilatation. The fibroesophagoscopy demonstrated multiple submucosal nodules below a level 22 cm from the incisor and covered with intact mucosa. CT scans of the chest showed a long segment of circumferential soft tissue in the posterior mediastinum which encircled and involved the upper two thirds of the esophagus. An intrathoracic esophagectomy with cervical esophagogastrostomy via the substernal route was performed. Grossly, multiple confluent myomatous nodules circumferentially involved the upper and middle third of the esophagus. Histologic findings showed diffuse leiomyomatosis of the esophagus. Conclusion: Esophageal leiomyomatosis should be considered in a young patient with long-standing dysphagia in whom smooth, tapered esophageal narrowing on barium study and circumferential esophageal wall thickening on CT scan are seen. An esophagectomy combined with a reconstruction procedure is indicated.

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Section: Discussionsupporting

confidence: 64%

Diffuse Leiomyomatosis of the Esophagus

Cheng¹,

Hsu²,

Hsu³

et al. 2000

Dig Surg

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“…Alport syndromeassociated esophageal leiomyomas may already manifest in childhood and occur in siblings. [63][64][65] Interestingly, similar somatic changes involving collagen 4 gene have also been detected in sporadic esophageal leiomyomas indicating that disruption of basement membrane collagen may be related their pathogenesis. 66 Even rarer syndrome associated with GI mural leiomyoma is multiple endocrine neoplasia type 1 (also known as Werner syndrome, with pituitary, parathyroid, and pancreatic/duodenal neuroendocrine tumors, with mutated MEN1 tumor-suppressor gene).…”

Section: Gastrointestinal Smooth Muscle Tumorsmentioning

confidence: 69%

Smooth muscle tumors of soft tissue and non-uterine viscera: biology and prognosis

Miettinen

2014

Modern Pathology

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Smooth muscle tumors are here considered an essentially dichotomous group composed of benign leiomyomas and malignant leiomyosarcomas. Soft tissue smooth muscle tumors with both atypia and mitotic activity are generally diagnosed leiomyosarcomas acknowledging potential for metastasis. However, lesions exist that cannot be comfortably placed in either category, and in such cases the designation 'smooth muscle tumor of uncertain biologic potential' is appropriate. The use of this category is often necessary with limited sampling, such as needle core biopsies. Benign smooth muscle tumors include smooth muscle hamartoma and angioleiomyoma. A specific category of leiomyomas are estrogen-receptor positive ones in women. These are similar to uterine leiomyomas and can occur anywhere in the abdomen and abdominal wall. Leiomyosarcomas can occur at any site, although are more frequent in the retroperitoneum and proximal extremities. They are recognized by likeness to smooth muscle cells but can undergo pleomorphic evolution ('dedifferentiation'). Presence of smooth muscle actin is nearly uniform and desmin-positivity usual. This and the lack of KIT expression separate leiomyosarcoma from GIST, an important problem in abdominal soft tissues. EBVassociated smooth muscle tumors are a specific subcategory occurring in AIDS or post-transplant patients. These tumors can have incomplete smooth muscle differentiation but show nuclear EBER as a diagnostic feature. In contrast to many other soft tissue tumors, genetics of smooth muscle tumors are poorly understood and such diagnostic testing is not yet generally applicable in this histogenetic group. Leiomyosarcomas are known to be genetically complex, often showing 'chaotic' karyotypes including aneuploidy or polyploidy, and no recurrent tumor-specific translocations have been detected.

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“…However, two different disease complexes involving esophageal leiomyomatosis have been described. The first is the association of esophageal leiomyomatosis and Alport’s syndrome in children [13, 14, 15]. The second, which is more pertinent to our patient, is the association of esophageal leiomyomatosis and vulvar leiomyomas.…”

Section: Discussionmentioning

confidence: 99%

Esophageal Leiomyomatosis in a Woman with a History of Vulvar Leiomyoma and Barrett’s Esophagus

Compagnoni

Talamonti²,

Joob³

et al. 2000

Dig Surg

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Background: The diagnosis and treatment of esophageal pathology remains a challenge despite advances in preoperative endoscopy, radiographic staging, and perioperative care. Case Report: In this article, we present an interesting case of esophageal leiomyomatosis in a woman with a history of vulvar leiomyoma and Barrett’s esophagus. This paper represents the first reported simultaneous occurrence of these three pathologic entities in the English literature. Conclusions: The clinical presentation and characteristic pathologic findings in patients with esophageal leiomyomatosis are reviewed. Diagnostic and therapeutic approaches to esophageal masses are discussed including the indications for esophageal resection.

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Familial oesophageal leiomyomatosis and nephropathy

Cited by 52 publications

References 22 publications

Diffuse Leiomyomatosis of the Esophagus

Diffuse Leiomyomatosis of the Esophagus

Smooth muscle tumors of soft tissue and non-uterine viscera: biology and prognosis

Esophageal Leiomyomatosis in a Woman with a History of Vulvar Leiomyoma and Barrett’s Esophagus

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