PedAM
Pediatric Disease Annotations & Medicines
| Disease | desmoid tumor |
| Phenotype | C0032580|familial adenomatous polyposis coli |
| Sentences | 1 |
| PubMedID- 26199790 | No association with metastatic disease has been reported, however, they often show a strong tendency to infiltrate local adjacent tissue causing significant morbidity and mortality.1 sporadic desmoid tumors (those not associated with the familial adenomatous polyposis coli [fap] syndrome) have an estimated incidence of two to five cases per million per year.23 pregnancy-related desmoid tumors are even more infrequent, with limited published literature available.2 the etiology of this condition is currently unknown, however it has been shown that the majority of spontaneous desmoid tumors show activating mutations of the beta catenin gene,145 as well as somatic mutations of the adenomatous polyposis coli gene.6 they have also been associated with hyperestrogenic states and trauma, but the evidence is largely based on retrospective and anecdotal case reports.2 it seems that the hormonal and immunological changes occurring in pregnancy may play a role in the severity and course of the disease, however, their true association with the pathogenesis of the disease remains unclear. |
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