Desmoid Tumors in Familial Adenomatous Polyposis

doi:10.21873/anticanres.11702

Cited by 72 publications

(44 citation statements)

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“…Desmoid tumors associated to familial adenomatous polyposis (FAP) (Gardner's syndrome) occur in about 10-15% of cases [9], are rarer than sporadic DTs and may have a severe prognosis when they infiltrate or compress vital organs or their vascularization. In these DTs, the germline mutations in APC gene are responsible for the nuclear accumulation of β-catenin.…”

Section: Research Papermentioning

confidence: 99%

The role of miRNA-133b and its target gene SIRT1 in FAP-derived desmoid tumor

et al. 2020

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Signaling pathways have a key role in driving the uncontrolled development of familial adenomatous polyposis (FAP)-associated and sporadic desmoid tumors (DTs). The relationship between the Wnt/b-catenin signaling pathway and DTs has been extensively studied, but no reliable biomarkers able to detect their histological subtype have been identified for the accurate diagnosis. In this study we studied the differences in miRNA expression between sporadic (20 patients) and FAP-associated DTs (7 patients) using microarray confirmed by quantitative PCR (qPCR). The analysis showed 19 dysregulated miRNAs. Among them miR-133b levels were significantly lower in FAP-associated DT than in sporadic DT. Therefore, two mRNAs, associated to miR-133b and β-catenin expression, the SIRT1 and ELAVL1were analyzed. The qPCR analysis showed that SIRT1 mRNA levels were significantly upregulated in FAP-associated DT than in sporadic DT, whereas no differences in ELAVL1 expression was observed between these two DT types. In addition, a negative correlation was observed between miR-133b and SIRT1 in FAP-associated DTs, but not in sporadic DTs. The miR-133b-SIRT1-β-catenin axis may represent a novel mechanism underlying progression of FAP-associated DT.

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Section: Research Papermentioning

confidence: 99%

The role of miRNA-133b and its target gene SIRT1 in FAP-derived desmoid tumor

et al. 2020

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“…Sporadic DT represent 85–90% of the total diagnoses and in this population, a striking female predominance is observed (male/female ratio of approximately 0.5). DT are diagnosed in about 10–15% of patients affected by FAP syndrome, a risk 800- to 1000-fold higher than in the general population [ 3 ]. FAP is a hereditary cancer syndrome caused by germline mutations in the APC (adenomatous polyposis coli) gene predisposing to hundreds of adenomatous polyps of the colon and colorectal adenocarcinoma as well as, to a lesser extent, to other cancer types [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

Recent Advances in Desmoid Tumor Therapy

Napolitano

Mazzocca

Ceruso

et al. 2020

Cancers

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The desmoid tumor is a locally aggressive proliferative disease within the family of soft-tissue sarcomas. Despite its relatively good prognosis, the clinical management of desmoid tumors requires constant multidisciplinary evaluation due to its highly variable clinical behavior. Recently, active surveillance has being regarded as the appropriate strategy at diagnosis, as indolent persistence or spontaneous regressions are not uncommon. Here, we review the most recent advances in desmoid tumor therapy, including low-dose chemotherapy and treatment with tyrosine kinase inhibitors. We also explore the recent improvements in our knowledge of the molecular biology of this disease, which are leading to clinical trials with targeted agents.

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“…Desmoid tumors (DTs), also referred to as aggressive deep-seated fibromatosis, are slow-growing, non-metastasizing, benign, monoclonal fibroblastic tumors, which are rare in the general population, and common in patients with familial adenomatous polyposis (FAP; approximately 5-10% of all DT cases) [1,2]. The main differences between sporadic and FAP-related DTs are summarized in Table 1.…”

Section: Introductionmentioning

confidence: 99%

Desmoid Tumors Characteristics, Clinical Management, Active Surveillance, and Description of Our FAP Case Series

Sanchez-Mete¹,

Ferraresi

Caterino

et al. 2020

JCM

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(1) Background: desmoid tumors (DTs) are common in patients with familial adenomatous polyposis (FAP). An active surveillance approach has been recently proposed as a valuable alternative to immediate treatment in some patients. However, no clear indication exists on which patients are suitable for active surveillance, how to establish the cut-off for an active treatment, and which imaging technique or predictive factors should be used during the surveillance period. (2) Results: we retrospectively analyzed 13 FAP patients with DTs. A surveillance protocol consisting of scheduled follow-up evaluations depending on tumor location and tissue thickening, abdominal computed tomography (CT) scan/Magnetic resonance imaging (MRI) allowed prompt intervention in 3/11 aggressive intra-abdominal DTs, while sparing further interventions in the remaining cases, despite worrisome features detected in three patients. Moreover, we identified a possible predictive marker of tumor aggressiveness, i.e., the “average monthly growth rate” (AMGR), which could distinguish patients with very aggressive/life-threatening tumor behavior (AMGR > 0.5) who need immediate active treatment, from those with stable DTs (AMGR < 0.1) in whom follow-up assessments could be delayed. (3) Conclusion: surveillance protocols may be a useful approach for DTs. Further studies on larger series are needed to confirm the usefulness of periodic CT scan/MRI and the value of AMGR as a prognostic tool to guide treatment strategies.

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Desmoid Tumors in Familial Adenomatous Polyposis

Cited by 72 publications

References 46 publications

The role of miRNA-133b and its target gene SIRT1 in FAP-derived desmoid tumor

The role of miRNA-133b and its target gene SIRT1 in FAP-derived desmoid tumor

Recent Advances in Desmoid Tumor Therapy

Desmoid Tumors Characteristics, Clinical Management, Active Surveillance, and Description of Our FAP Case Series

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