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Expert Review of Anticancer Therapy Jun 2024APC-associated polyposis is a rare hereditary disorder characterized by the development of multiple adenomas in the digestive tract. Individuals with APC-associated... (Review)
Review
INTRODUCTION
APC-associated polyposis is a rare hereditary disorder characterized by the development of multiple adenomas in the digestive tract. Individuals with APC-associated polyposis need to be managed by specialized multidisciplinary teams in dedicated centers.
AREAS COVERED
The study aimed to review the literature on Familial adenomatous polyposis (FAP) to provide an update on diagnostic and surgical management while focusing on strategies to minimize the risk of desmoid-type fibromatosis, cancer in anorectal remnant, and postoperative complications. FAP individuals require a comprehensive approach that includes diagnosis, surveillance, preventive surgery, and addressing specific extracolonic concerns such as duodenal and desmoid tumors. Management should be personalized considering all factors: genotype, phenotype, and personal needs. Total colectomy and ileo-rectal anastomosis have been shown to yield superior QoL results when compared to Restorative Procto colectomy and ileopouch-anal anastomosis with acceptable oncological risk of developing cancer in the rectal stump if patients rigorously adhere to lifelong endoscopic surveillance. Additionally, a low-inflammatory diet may prevent adenomas and cancer by modulating systemic and tissue inflammatory indices.
EXPERT OPINION
FAP management requires a multidisciplinary and personalized approach. Integrating genetic advances, innovative surveillance techniques, and emerging therapeutic modalities will contribute to improving outcomes and quality of life for FAP individuals.
Topics: Humans; Adenomatous Polyposis Coli; Quality of Life; Colectomy; Postoperative Complications; Patient Care Team; Precision Medicine; Phenotype; Genotype; Fibromatosis, Aggressive
PubMed: 38785081
DOI: 10.1080/14737140.2024.2344649 -
Ear, Nose, & Throat Journal Nov 2023Fibromatosis or desmoid tumors are rare benign fibroblastic lesions that are rarely present in the head and neck regions. When they do occur in these regions, however,...
Fibromatosis or desmoid tumors are rare benign fibroblastic lesions that are rarely present in the head and neck regions. When they do occur in these regions, however, they tend to be aggressive toward the surrounding tissue and be associated with heavy morbidity and mortality. We report the case of a 26-year-old Tunisian female who presented with acute obstructive dyspnea and a 3-week history of cervical swelling. The swelling was initially only located in the left submandibular area, it then gradually extended to all the anterior cervical supra- and infrahyoid regions causing a clinical presentation resembling that of obstructive dyspnea, the patient was admitted, and an emergency tracheotomy was performed. Tissue samples were taken, pathological analysis revealed an aggressive case of fibromatosis. The patient was treated with corticosteroids and antihormonal therapy, the fibrous mass shrunk considerably allowing the removal of the tracheotomy cannula, no tumor recurrence was noted during the observation period. Due to the rarity of this disease, especially in the cervical region, there are no therapeutic guidelines available.
PubMed: 37949917
DOI: 10.1177/01455613231210392 -
Annals of Surgical Oncology Aug 2023In this study, we aimed to describe the clinical features, management, and outcomes of desmoid tumors (DTs) in familial adenomatous polyposis (FAP) patients at a...
OBJECTIVE
In this study, we aimed to describe the clinical features, management, and outcomes of desmoid tumors (DTs) in familial adenomatous polyposis (FAP) patients at a high-volume sarcoma center.
METHODS
Consecutive patients with FAP and DTs were identified from our institutional databases (1985-2021). Patient demographics, treatment, and outcomes were described. Categorical data were compared using Fisher's exact test, and Kaplan-Meier curves were used to estimate progression-free survival (PFS).
RESULTS
Forty-five patients with 67 DTs were identified: 39 mesenteric or retroperitoneal (58.2%), 17 abdominal wall (25.4%), 4 extremity (6%), 4 breast (6%) and 3 back (4.4%). Severe DT symptoms were present in 12 patients (26.7%). Initial treatments per tumor were observation in 30 (44.8%) DTs, chemotherapy in 15 (22.4%) DTs, surgery in 10 (14.9%) DTs, and other systemic therapies in 10 (14.9%) DTs. The majority of DTs remained stable with observation or a single intervention (77.8%). Median PFS was 23.4 years (95% confidence interval 7.6-39.2). In the 12 severely symptomatic patients, four patients required more than two interventions for DT control. At a median follow-up of 6.0 years (range 0.7-35.8 years), 33 (73.3%) patients were alive with disease, 7 (15.6%) were alive without disease, and 5 (11.1%) died of other causes. No patients died of DT-related complications.
CONCLUSIONS
The majority of DTs in FAP patients remained stable with observation or a single intervention. There were no DT-related deaths; however, 12 of 45 patients (26.7%) experienced significant tumor morbidity and required more interventions for disease control. Further studies on quality of life are required.
Topics: Humans; Fibromatosis, Aggressive; Quality of Life; Adenomatous Polyposis Coli; Mesentery
PubMed: 37237094
DOI: 10.1245/s10434-023-13675-1 -
Journal of Vascular and Interventional... Sep 2023To determine the risk factors for local of adult patients treated for desmoid tumors by cryoablation.
PURPOSE
To determine the risk factors for local of adult patients treated for desmoid tumors by cryoablation.
MATERIALS AND METHODS
Eighty-four patients treated for nonabdominopelvic desmoid tumors by cryoablation from July 2012 to July 2020 were included in a retrospective study. The population was composed of 64 women (76.19%) and 20 men (23.81%), aged from 16 to 75 years (median, 35 years ± 14.25). Each patient underwent preprocedural gadolinium-enhanced magnetic resonance imaging and was followed up to 36 months with the same technique. Clinical features, such as tumor size and previous treatment, epidemiological features, and the technical parameters of cryoablation, were studied.
RESULTS
Local relapse was found in 19 (22.62%) of 84 patients. The 12-, 24-, and 36-month progression-free survival rates were 89% (95% confidence interval [CI], 79-94), 74% (95% CI, 60-83), and 68% (95% CI, 53-79), respectively. In univariate analysis, significant prognostic factors associated with local recurrence were non-abdominal wall location (P = .042), debulking strategy (P = .0105), risk of visceral injury (P = .034) or peripheral nerve injury during cryoablation (P = .033), previous radiation therapy (P = .043), and treatment before 2016 (P = .008). In multivariate analysis, abdominal wall tumors displayed the best outcome, whereas the neck and trunk showed a high rate of recurrence (hazard ratio, 7.307 [95% CI, 1.396-38.261]).
CONCLUSIONS
The local recurrence of desmoid tumors after cryoablation depends on a number of prognostic factors, in particular, a non-abdominal wall location of the tumor and previous local treatment such as surgery or radiation therapy.
Topics: Adult; Male; Humans; Female; Fibromatosis, Aggressive; Retrospective Studies; Prognosis; Cryosurgery; Neoplasm Recurrence, Local; Treatment Outcome
PubMed: 37182669
DOI: 10.1016/j.jvir.2023.05.012 -
Skeletal Radiology May 2024
Topics: Humans; Fibromatosis, Aggressive; Choristoma; Hamartoma; Skin Diseases
PubMed: 37943306
DOI: 10.1007/s00256-023-04496-0 -
Cancer Jan 2024
Topics: Humans; Fibromatosis, Aggressive; Wounds and Injuries
PubMed: 37897628
DOI: 10.1002/cncr.35079 -
Clinics and Practice Sep 2023Plantar fibromatosis (or Ledderhose's disease) is a rare benign condition, difficult to treat, defined by gradual-growing nodules in the central medial part of the... (Review)
Review
Plantar fibromatosis (or Ledderhose's disease) is a rare benign condition, difficult to treat, defined by gradual-growing nodules in the central medial part of the plantar fascia, with the possibility of sclerosis and shrinkage of the entire fascia or, rarely, contractures of the toes. From a histopathological point of view, it is linked to Dupuytren's contracture of the hand and Peyronie's disease of the penis, being part of a large group of fibromatoses, based on a proliferation of collagen and fibroblasts. Its etiology is still not fully understood, even though it has been associated with trauma, diabetes mellitus, use of anticonvulsants, frozen shoulder, alcohol consumption, and liver disease. Typically, ultrasound confirms the diagnosis, and magnetic resonance imaging is used for more aggressive and advanced types. Several conservative treatment techniques, such as steroid injections, verapamil, imatinib, radiation therapy, extracorporeal shock wave therapy, tamoxifen, sorafenib, mitomycin C, and collagenase, have been documented. When non-operative care fails, surgical measures may be considered, even though recurrence is expected. We attempted to provide a better understanding of this disease by covering all of the important aspects: its history, clinical and radiologic findings, diagnosis, pathophysiology features, conservative and surgical treatment, recurrence rate, and prognosis.
PubMed: 37887082
DOI: 10.3390/clinpract13050106 -
Quantitative Imaging in Medicine and... Oct 2023Desmoid-type fibromatosis (DF) is a locally aggressive tumor characterized by peripheral infiltration of neoplastic cells and remote metastasis disability. This...
BACKGROUND
Desmoid-type fibromatosis (DF) is a locally aggressive tumor characterized by peripheral infiltration of neoplastic cells and remote metastasis disability. This systematic review examined the efficacy and safety of thermal ablative therapy for DF tumors.
METHODS
A literature search was conducted using PubMed, Web of Science, Cochrane Library, and Embase from January 1, 2000, to November 12, 2022. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement was used to guide literature selection. The inclusion criteria were the following: (I) the patients were diagnosed with aggressive fibromatosis pathologically, (II) the patients were treated by thermal ablations, and (III) a focus on treatment efficacy and safety. Meanwhile, the exclusion criteria were the following: (I) cohorts of patients with hypertrophic scar, Gardner fibroma, or nodular fasciitis; (II) conference abstracts, reviews, case reports, letters to editors, comments, or editorials; (III) number of patients <5; (IV) or animal experiments; and (V) non-English language articles. The inverse variance method with a random effects model was used to obtain the pooled data. Subgroup analyses were performed to identify treatment factors. Egger test was conducted to assess the risk of publication bias.
RESULTS
After literature selection, 694 DF tumors were identified in 23 studies. In terms of modality, 13 studies used cryoablation, 9 studies used high-intensity focused ultrasound (HIFU), and 1 study used microwave ablation (MWA). The pooled symptom relief rate was 90% [95% confidence interval (CI): 80-97%], with that for HIFU being 100% (95% CI: 85-100%), that for cryoablation being 87% (95% CI: 74-97%), and that MWA being 89% (95% CI). The pooled major complication rate was 3% (95% CI: 1-7%), and that for each modality was as follows: HIFU =2% (95% CI: 0-6%), cryoablation =4% (95% CI: 1-8%), MWA =11%, ultrasound =6% (95% CI: 1-13%), computed tomography (CT) =2% (95% CI: 0-7%), and magnetic resonance imaging (MRI) =3% (95% CI: 0-14%). The pooled nonperfused volume rate (NPVR) was 76% (95% CI: 71-81%), and that for each modality was as follows: HIFU =77% (95% CI: 71-85%), cryoablation =74% (95% CI: 69-79%), ultrasound =75% (95% CI: 67-83%), CT =76% (95% CI: 67-87%), and MRI =78% (95% CI: 70-87%). The pooled local control rate was 88% (95% CI: 79-94%) and that for each modality was as follows: HIFU =99% (95% CI: 96-100%), cryoablation =80% (95% CI: 68-90%), and MWA =78%. The differences in major complication rate (P=0.77) and NPVR between imaging-guided modalities (P=0.40) were not significant, nor were the differences in symptom relief rate (P=0.32) and major complication rate (P=0.61) between ablative techniques; however, the differences in local control rate (P=0.01) were significant between ablative techniques.
CONCLUSIONS
Imaging-guided thermal ablative therapies contribute to symptom relief with a duration of more than 6 months and a low major complication rate of DF tumors.
PubMed: 37869315
DOI: 10.21037/qims-23-289 -
Internal Medicine (Tokyo, Japan) Sep 2023A 36-year-old man was diagnosed with multiple gastric polyps by esophagogastroduodenoscopy. Subsequent colonoscopy identified two tubular adenomas, and computed...
A 36-year-old man was diagnosed with multiple gastric polyps by esophagogastroduodenoscopy. Subsequent colonoscopy identified two tubular adenomas, and computed tomography revealed subcutaneous tumors. Based on these findings, we suspected that gastric polyposis was associated with the APC gene, either attenuated familial adenomatous polyposis (AFAP) or gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). A genetic analysis demonstrated that he had a frameshift variant at codon 1928 of APC, suggesting AFAP. In this era of less Helicobacter pylori infection and frequent use of proton pump inhibitors, diagnoses of AFAP and GAPPS should be considered in patients with prominent gastric fundic gland polyposis.
Topics: Male; Humans; Adult; Helicobacter Infections; Helicobacter pylori; Adenomatous Polyposis Coli; Stomach Neoplasms
PubMed: 36725040
DOI: 10.2169/internalmedicine.1101-22 -
Cancer Science Feb 2024Desmoid tumors (DTs), also called desmoid-type fibromatoses, are locally aggressive tumors of mesenchymal origin. In the present study, we developed a novel mouse model...
Desmoid tumors (DTs), also called desmoid-type fibromatoses, are locally aggressive tumors of mesenchymal origin. In the present study, we developed a novel mouse model of DTs by inducing a local mutation in the Ctnnb1 gene, encoding β-catenin in PDGFRA-positive stromal cells, by subcutaneous injection of 4-hydroxy-tamoxifen. Tumors in this model resembled histologically clinical samples from DT patients and showed strong phosphorylation of nuclear SMAD2. Knockout of SMAD4 in the model significantly suppressed tumor growth. Proteomic analysis revealed that SMAD4 knockout reduced the level of Cysteine-and-Glycine-Rich Protein 2 (CSRP2) in DTs, and treatment of DT-derived cells with a TGF-β receptor inhibitor reduced CSRP2 RNA levels. Knockdown of CSRP2 in DT cells significantly suppressed their proliferation. These results indicate that the TGF-β/CSRP2 axis is a potential therapeutic target for DTs downstream of TGF-β signaling.
Topics: Animals; Humans; Mice; beta Catenin; Fibromatosis, Aggressive; LIM Domain Proteins; Mice, Knockout; Muscle Proteins; Nuclear Proteins; Proteomics; Transforming Growth Factor beta; Up-Regulation
PubMed: 38041233
DOI: 10.1111/cas.16037