Familial desmoids in association with adrenal and ovarian masses and leiomyomas: report of three cases

Gökhan Özüner, G Ozuner, T L Hull, Tracy L. Hull
Diseases of the Colon & Rectum · 1999 · vol. 42(4) , pp. 529–532 · doi:10.1007/bf02234182 · PMID:10215057 · W2072464014
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Three sisters with familial adenomatous polyposis presented with desmoid tumors, ovarian masses, adrenal masses, and neurologic involvement, suggesting a potential genetic predisposition.

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Abstract

PURPOSE: Desmoid tumors are rare occurrences. However, they are more commonly seen in patients with familial adenomatous polyposis. The purpose of this article is to review three cases of abdominal desmoids in association with adrenal, ovarian masses, leiomyoma, and neurologic involvement in three sisters with familial adenomatous polyposis. METHOD: A case study was done of these sisters, their siblings, and their parents. RESULTS: All three sisters had desmoid tumors and no evidence of familial adenomatous polyposis. All three sisters had ovarian pathology, two had adrenal masses, one had a fibroadenoma of the breast, one had a leiomyoma of the stomach, and two had neurologic involvement. Additionally, male siblings, parents, and grandparents had no evidence of desmoids or familial adenomatous polyposis. CONCLUSION: This constellation of symptoms in the affected sisters may reflect a separate gene defect predisposing to desmoid tumors or a varying expression of the adenomatous polyposis coli gene.

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MeSH descriptors

Adrenal Cortex Neoplasms Adrenocortical Adenoma Fibromatosis, Abdominal Leiomyoma Ovarian Neoplasms Adenomatous Polyposis Coli Adolescent Adrenal Cortex Neoplasms Adrenocortical Adenoma Adult Female Fibromatosis, Abdominal Humans Leiomyoma Male Nervous System Diseases Nervous System Diseases Ovarian Neoplasms Stomach Neoplasms Stomach Neoplasms

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