• Ablation
• Locoregional
• Minimally-invasive
• Non-invasive
• Solid organ tumor

• CTNNB1 S45F
• CTNNB1 T41A
• Desmoid tumor
• Relapse-free survival (RFS)
• Tumor location

• Humans
• Male
• Female
• Adult
• Middle Aged
• Fibromatosis, Aggressive/genetics
• Fibromatosis, Aggressive/pathology
• Fibromatosis, Aggressive/mortality
• Fibromatosis, Aggressive/metabolism
• Adolescent
• Prognosis
• Young Adult
• Aged
• Retrospective Studies
• Child
• Mutation
• Aged, 80 and over
• beta Catenin/genetics
• beta Catenin/metabolism
• Transcriptome
• Child, Preschool
• Infant
• Biomarkers, Tumor/genetics
• Abdominal Neoplasms/genetics
• Abdominal Neoplasms/pathology
• Abdominal Neoplasms/mortality
• Gene Expression Profiling
• Thoracic Neoplasms/genetics
• Thoracic Neoplasms/pathology
• Thoracic Neoplasms/mortality

• Crosstalk
• Desmoid tumor
• Notch signaling
• Wnt signaling
• γ-Secretase inhibitors

• Humans
• Fibromatosis, Aggressive/drug therapy
• Fibromatosis, Aggressive/genetics
• Amyloid Precursor Protein Secretases/metabolism
• Receptors, Notch/genetics
• Receptors, Notch/metabolism
• Wnt Signaling Pathway

• papillary thyroid carcinoma
• desmoid
• Gardner syndrome

• Female
• Humans
• Middle Aged
• Thyroid Cancer, Papillary
• Fibromatosis, Aggressive/diagnostic imaging
• Fibromatosis, Aggressive/surgery
• Neoplasm Recurrence, Local
• Adenomatous Polyposis Coli/pathology
• Adenomatous Polyposis Coli/surgery
• Thyroid Neoplasms/diagnostic imaging
• Thyroid Neoplasms/surgery

• Beta catenin
• Desmoid tumor
• Inflammation
• Mutation
• Pancreatitis
• microRNA

• Desmoid fibromatosis
• Desmoid tumor
• Recurrent desmoid

• CTNNB1
• Aggressive fibromatosis
• Choristoma
• Peripheral nerves
• Wnt signaling pathway
• β-Catenin

A 23-year-old Korean female presented epigastric pain of two-months’ duration. She had a laparoscopic ovarian cyst excision 8 months previously. Clinical examination was normal. An abdominal computed tomogram (CT) demonstrated a 10-cm solid mass in the distal pancreas, with signs of splenic artery and vein occlusion, gastric and transverse colon invasion. Operative findings showed a mass involving distal pancreas, invasive to the posterior wall of the antrum of the stomach and transverse colon and 4th portion of the duodenum without lymph node involvement. The surgery consisted of a distal pancreatectomy, splenectomy and combined partial resection of the stomach, transverse colon and 4th portion of the duodenum. The immunohistochemistry and histopathological features were consistent with a confirmed diagnosis of intra-abdominal desmoid type fibromatosis (DTF). The prognosis of pancreatic DTF is not known and she showed no recurrence or distant metastasis during a 3 year follow-up. Herein we report a rare case with an isolated, sporadic, and non-trauma-related DTF, located at the pancreatic body and tail.

• Aggressivefibromatosis
• Desmoid tumor
• Pancreatic desmoid type fibromatosis

• Desmoid tumor
• Desmoid-type fibromatosis
• Outcome
• Surgery
• Treatment
• Wait-and-see

• Adult
• Aged
• Female
• Desmoid Tumors/mortality
• Desmoid Tumors/pathology
• Desmoid Tumors/surgery
• Humans
• Male
• Middle Aged
• Prospective Studies
• Survival Rate
• Watchful Waiting

Desmoid tumours are benign neoplasms of myofibroblasts, often occurring after soft-tissue trauma. Rarely, desmoid tumours can occur following operative intervention, including spine surgery. In this case report, we describe the first reported case of desmoid tumour following scoliosis corrective surgery in an adolescent.

• CT scan
• MRI
• desmoid tumors
• familial adenomatous polyposis (FAP)
• prognostic factors
• surveillance protocol
• tumor growth

• desmoid-type fibromatosis
• pharmacological treatment
• systematic review
• tumour location

• Adult
• Female
• Fibromatosis, Aggressive/drug therapy
• Humans
• Male
• Middle Aged
• Prognosis

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 up-regulated 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.

• B-catenin
• Wnt pathway
• desmoid tumor
• familial adenomatous polyposis
• miRNA

• Biologie
• Biology
• Desmoid tumors
• Fibromatose
• Fibromatosis
• Oncogenesis
• Oncogenèse
• Signaling pathways
• Tumeurs desmoïdes
• Voies de signalisation

Desmoid tumors (DTs), derived from the abdomen, are a type of rare and aggressive borderline tumor exhibiting high recurrence and malignant potential. The aim of the present study was to investigate the clinicopathological and molecular characteristics of abdominal DT in a Chinese population and to provide clues for selecting the optimal treatment strategy for different types of abdominal DT. The clinicopathological data of 15 consecutive patients with DT was collected. Matched fresh-frozen tumor tissues and peripheral blood samples were used to detect mutations of adenomatous polyposis coli gene (APC), β-catenin (CTNNB1) and MutY DNA glycosylase (MUTYH) using Sanger sequencing. Pearson's test was conducted to analyze the differences between sporadic DT and familial adenomatous polyposis (FAP) associated with DT. Time to progress (TTP) and overall survival curves were estimated using the Kaplan-Meier method and compared using the log-rank test. A review of the patient clinicopathological characteristics revealed that FAP-associated DT exhibited a higher rate of abdominal surgery history (P=0.011), with no significant differences in any other characteristics. Sequencing revealed that mutations in the APC, CTNNB1 and MUTYH genes were common in DT, and only one patient harbored no mutations in these genes. Survival analyses revealed that patients with FAP exhibited shorter TTP (P=0.030). Log-rank test demonstrated a tendency towards shorter TTP in the cases where an R2 resection was performed (P=0.072) and a tendency towards poor prognosis in the cases of DT associated with FAP (P=0.087). In conclusion, Abdominal DTs were prone to occur in patients with FAP with a history of abdominal surgery. Mutations in the APC, CTNNB1 and MUTYH genes were detected in patients with DTs. To the best of our knowledge, this is the first study of abdominal DT occurrence in patients with MUTYH-associated FAP. The prognosis of DT associated with FAP may be worse compared with that of sporadic DT.

• MutY DNA glycosylase
• adenomatous polyposis coli gene
• desmoid tumors
• familial adenomatous polyposis
• prognosis
• treatment
• β-catenin

• CTNNB1 mutation
• desmoid tumor
• desmoid-type fibromatosis
• review
• signaling pathways
• targeted therapies
• ß-catenin

This study aimed to assess the feasibility of split course radiotherapy (SCRT) and reports long-term outcomes in patients with desmoid tumors (DT).

Between 2001 and 2004, 31 patients with recurrent (n=19) or primary large desmoid fibromatosis (≥10 cm) (n=12) who were treated with SCRT were retrospectively analyzed. All patients were treated with two phases of radiotherapy with a median interval time of 99 days (range: 81–122 days) and a median total dose of 6,399 cGy (range: 5,013–7,039 cGy). The median dose for the first phase was 3,969 cGy/22 Fx (range: 2,999–4,305 cGy), and 2,495 cGy/14 Fx (range: 1,982–3,039 cGy) for the second phase. Progression-free survival (PFS) in response to radiotherapy was evaluated using the Kaplan–Meier method and compared using the log-rank test. The prognostic factors associated with survival were evaluated by univariate and multivariate analyses.

The median age of all patients was 30 years (range, 7–58 years). With a median follow-up of 60.4 months (range, 2–187 months), eight patients experienced disease progression after treatment. The PFS rate at 3 and 5 years for the whole population was 90% and 71.3%, respectively. PFS for patients with split course of <100 days or ≥100 days interval was 100% vs 78.6% at 3 years, and 80.4% vs 62.9% at 5 years, respectively (P=0.189). In multivariate analysis, the radiotherapy (RT) interval time was an independent prognostic factor for PFS (≥100 days vs <100 days, HR 11.544, 95% CI 1.034–128.878, P=0.047). PFS was not significantly influenced by age, gender, surgery, tumor location, RT technology, or RT dose. Radiation-related acute complications occurred in nine (29%) patients after RT, and RT-related long-term complications occurred in three (9.7%) patients.

SCRT with an appropriate treatment interval (<100 days) is well tolerated by DT patients with favorable long-term outcomes.

• desmoid tumors
• local control
• split course radiation

• Fibromatosis, Aggressive/pathology
• Humans
• Infant
• Male
• Maxilla/pathology
• Maxillary Neoplasms/pathology

• Desmoid-type fibromatosis
• Focus group
• Health-related quality of life
• Literature review

• Adult
• Female
• Fibromatosis, Aggressive/pathology
• Fibromatosis, Aggressive/psychology
• Focus Groups
• Humans
• Male
• Middle Aged
• Quality of Life/psychology

• 566 Stichting Coolsingel

• Aggressive fibromatosis
• Desmoid tumor
• Latissimus dorsi flap

• Desmoid
• Fibromatosis
• Tamoxifen/NSAID

• CT, computed tomography
• MRI, magnetic resonance imaging

• ex vivo resection
• fap
• feasible technique
• intestinal autotransplantation
• mesenteric desmoid tumor

• Adenomatous Polyposis Coli/complications
• Adult
• Duodenum/transplantation
• Fibroma/etiology
• Fibroma/surgery
• Humans
• Male
• Peritoneal Neoplasms/etiology
• Peritoneal Neoplasms/surgery
• Transplantation, Autologous

• CTNNB1 gene mutations
• Pediatric population
• Sporadic desmoid tumors

• NICD
• molecular insights

Aggressive fibromatosis (AF) or desmoid tumors is an aggressive fibroblastic proliferation which is locally invasive but can not metastasize. The treatment of AF is challenging. Surgery was the main treatment modality for AF in the past, other strategies including radiotherapy, systemic therapies and wait-and-see policy. The use of non-steroidal anti-inflammatory drugs (NSAIDs) and targeted therapies has demonstrated good results. In the case report, a 39-year-old man presented with progressive chest wall pain. Computed tomography (CT) showed an approximately 46× 13 mm soft-tissue mass between the inside of the fifth and sixth rib on the right side. The entire mass was excised and an AF was confirmed based on histopathology. Four months after surgery, magnetic resonance imaging (MRI) showed a soft-tissue mass in surgical areas and biopsy confirmed local recurrence. Therefore, Tomotherapy was administered. However, two months later, an (18)F-fluorodeoxyglucose (FDG) Positron Emission Tomography combined with CT (PET-CT) revealed the presence of an FDG-avid mass in the area of local recurrence. Genetic testing reported the presence of a p.T41A mutations on the CTNNB1 gene, which predicted that he is sensitive to the COX-2 inhibitor celecoxib. The tumor regressed rapidly after the application of celecoxib. Within the 20-month follow-up period, the patient showed remarkable regression without any signs and symptoms. Our case report provides further evidence for the efficacy of celecoxib in AF with CTNNB1 gene mutations. To our knowledge, this is the first report of AF treated with celecoxib under the guidance of the genetic testing. However, further studies are required.

• CTNNB1gene mutations
• aggressive fibromatosis
• celecoxib
• genetic testing

• aggressive fibromatosis
• desmoid tumor
• desmoid-type fibromatosis
• familial adenomatous polyposis (FAP)

• Beta-catenin
• Desmoid fibromatosis
• Management
• Margins
• Observation

• Bile
• Cholangiocarcinoma
• Next-generation sequence analysis

• Adult
• Aged
• Aged, 80 and over
• Bile/metabolism
• Cholangiocarcinoma/genetics
• DNA, Neoplasm/analysis
• Female
• Genes, Neoplasm
• High-Throughput Nucleotide Sequencing/methods
• Humans
• Male
• Middle Aged
• Mutation/genetics
• Polymorphism, Single Nucleotide/genetics
• Software

A 36-year-old woman with no medical or surgical history was evaluated for weight loss. Abdominal computed tomography (CT) showed signs of Crohn's disease, which was later confirmed endoscopically. She was started on tumor necrosis factor-α (TNF-α) inhibitor therapy. Nine months after treatment, she experienced additional weight loss and a 7 x 8 x 8-cm mass on repeat CT. Biopsy revealed retroperitoneal fibromatosis, so TNF-α was continued. Repeat CT showed an enlarged mass. TNF-α therapy had a suspected role in mass growth, therapy was discontinued, and the mass surgically resected. One year after resection, she has regained weight with no recurrence of the mesenteric fibromatosis.

Desmoid tumour (DT) is an unusual, benign tumour, more frequently observed in patients with familial polyposis and pregnant females. It usually presents as a single mass lesion, more frequently showing a compressive rather than an infiltrative growth pattern. We report a case of a 70-year-old male presenting with a multifocal, bilateral infiltrative DT of the perirenal tissue, with involvement of the choledochus wall. The patient was partly treated with tamoxifen and docetaxel, but both therapies were discontinued in accordance with the patient’s decision owing to mild toxicity; however, a CT examination performed 3 months later showed an unexpected remarkable reduction of the tumour at all sites. At 1 year follow-up, new pathologic tissue was visible surrounding the right renal pelvis and the calices.

•

Intra-abdominal desmoid tumours have a poor prognosis as they can cause intestinal bleeding, obstruction and perforation.

Desmoid tumours (DTs) are rare, soft tissue tumours which account for 0.03% of all neoplasms. They are characteristically locally invasive but do not metastasize. There is frequent association with females of reproductive age, a history of abdominal surgery or trauma and a family history of fibromatoses. Intra-abdominal DTs are infrequently sporadic and more commonly associated with inherited disorders such as familial adenomatous polyposis (FAP), attenuated FAP and Gardener’s syndrome.

The authors report a rare case of small bowel obstruction and perforation secondary to sporadic, synchronous intra-abdominal DTs in a 54-year old man with atypical symptoms and no risk factors or family history.

Intra-abdominal DTs have a worse prognosis as they can cause intestinal bleeding, obstruction and perforation. Due to the rarity of these tumours there are no clear guidelines on their management and this is instead based on small case series from specialist centres. In the non-acute setting patients with sporadic intra-abdominal DTs should be managed in a specialist sarcoma unit by a multidisciplinary team. In the presence of FAP or other polyposis syndromes patients with DTs should be managed at a specialist colorectal unit. Emergent presentations require emergency surgery in suitable candidates.

In non-emergency presentations of DTs, it is essential to exclude FAP, AFAP and other hereditary polyposis syndromes since this affects treatment and subsequent follow-up.

• Desmoid
• Polyposis
• Sarcoma
• Sporadic

Desmoid fibromatosis is a rare but locally aggressive tumor comprised of myofibroblasts. Desmoids do not have the ability to metastasize but can cause significant morbidity and mortality by local invasion. These tumors may occur throughout the body, but are commonly found on the abdominal wall and within the intestinal mesentery. Desmoids in these areas may cause unique clinical problems for physicians and patients. Mutations in either the β-catenin or the APC genes are usually the cause for the development of these tumors with the former comprising the sporadic development of tumors and the latter being associated with familial adenomatous polyposis syndrome. Surgical resection with histologically negative margins has been the cornerstone of therapy for this disease, but this paradigm has begun to shift. It is now common to accept a microscopically positive margin after resection as recurrence rates may not be significantly affected. An even more radical evolution in management has been the recent movement towards “watchful waiting” when new desmoids are diagnosed. As the natural history of desmoids has become better understood, it is evident that some tumors will not grow and may even spontaneously regress sparing patients the morbidity of more aggressive therapy. Other modalities of treatment for desmoids include radiation and systemic therapy which both can be used adjuvantly or as definitive therapy and have shown durable response rates as single therapy regimens. The decision to use radiation and/or systemic therapies is often based on tumor biology, tumor location, surgical morbidity, and patient preference. Systemic therapy options have increased to include hormonal therapies, non-steroidal anti-inflammatory drugs and chemotherapy, as well as targeted therapies. Unfortunately, the rarity of this disease has resulted in a scarcity of randomized trials to evaluate any of these therapies emphasizing the need for this disease to be treated at high volume multidisciplinary institutions.

• Abdominal desmoid tumor
• Abdominal wall desmoid tumor
• Desmoid fibromatosis
• Desmoid tumor

• Aggressive fibromatosis
• Autopsy
• Desmoid tumor
• Forensic pathology

Desmoid tumors are benign mesenchymal neoplasms with a locally aggressive nature. The mutational status of β‐catenin gene (CTNNB1) is presumed to affect the tumorous activity of the cells. In this study, we isolated three kinds of desmoid cell with different CTNNB1 status, and compared their characteristics. Cells were isolated from three patients with abdominal wall desmoid during surgery, all of which were resistant to meloxicam treatment. The mutational status of the CTNNB1 exon 3 was determined for both parental tumor tissues and isolated cultured cells. β‐catenin expression was determined with immunohistochemistry. Responsiveness to meloxicam was investigated with MTS assay together with COX‐2 immunostaining. mRNA expressions of downstream molecules of Wnt/β‐catenin pathway were determined with real‐time RT‐PCR. Three kinds of cell isolated from desmoid tumors harboring different CTNNB1 mutation status (wild type, T41A, and S45F), all exhibited a spindle shape. These isolated cells could be cultured until the 20th passage with unchanged proliferative activity. Nuclear accumulation of β‐catenin was observed in all cultured cells, particularly in those with S45F. Proliferating activity was significantly suppressed by meloxicam (25 μmol/L, P < 0.007) in all three cell cultures, of which parental desmoid was resistant to meloxicam clinically. The mRNA expressions of Axin2, c‐Myc, and Cyclin D1 differently increased in the three cultured cell types as compared with those in human skin fibroblast cells (HDF). Inhibitors of Wnt/β‐catenin pathway downregulated Axin2, c‐Myc, and Cyclin D1 significantly. Isolated and cultured desmoid tumor cells harboring any one of the CTNNB1 mutation status had unique characteristics, and could be useful to investigate desmoid tumors with different mutation status of CTNNB1.

• CTNNB1 mutation
• Wnt/β-catenin pathway
• desmoid tumor
• meloxicam
• β-Catenin

• Cystic-solid tumor
• Desmoid tumor
• Pancreatic tumor
• Whipple procedure

• Abdominal wall
• Desmoid tumor
• Oncological safety
• Tissue sparing
• Ultrasound

• aggressive fibromatosis in children and adolescents
• immunohistochemistry
• recurrence
• type of resection

• Aggressive fibromatosis
• Desmoid
• Radiotherapy
• Surgery
• Treatment

• Adolescent
• Adult
• Aged
• Breast/surgery
• Breast Neoplasms/diagnosis
• Breast Neoplasms/pathology
• Breast Neoplasms/therapy
• Breast Neoplasms, Male/diagnosis
• Breast Neoplasms, Male/pathology
• Breast Neoplasms, Male/therapy
• Disease Progression
• Female
• Fibromatosis, Aggressive/diagnosis
• Fibromatosis, Aggressive/pathology
• Fibromatosis, Aggressive/therapy
• Follow-Up Studies
• Humans
• Magnetic Resonance Imaging
• Male
• Mastectomy
• Middle Aged
• Neoplasm Recurrence, Local/radiotherapy
• Neoplasm Recurrence, Local/surgery
• Radiotherapy
• Tumor Burden
• Watchful Waiting
• Young Adult