• cryoablation
• desmoid
• desmoid fibromatosis
• interventional radiology

• Humans
• Desmoid Tumors/therapy
• Desmoid Tumors/diagnostic imaging
• Radiology, Interventional/methods

• cell proliferation
• invasion
• ovarian cancer
• paclitaxel
• sulindac
• synergy

• aortic coarctation
• desmoid tumor
• newborn
• respiratory failure

• Desmoid tumor
• Fibromatosis
• Head and neck sarcoma
• Multidisciplinary management

• chest wall tumour
• complex surgical management
• desmoid-type fibromatosis
• desmoid tumors
• reconstructive surgery

• Cytotoxic chemotherapy
• Desmoid tumors
• Doxorubicin
• Familial adenomatous polyposis
• Real-world evidence

• Humans
• Female
• Male
• Fibromatosis, Aggressive/drug therapy
• Fibromatosis, Aggressive/pathology
• Adult
• Retrospective Studies
• Middle Aged
• Young Adult
• Adolescent
• Antineoplastic Combined Chemotherapy Protocols/therapeutic use
• Doxorubicin/therapeutic use
• Doxorubicin/administration & dosage
• Neoplasm Recurrence, Local/drug therapy
• Republic of Korea
• Aged
• Disease Progression

• #2018-0570 Asan Institute for Life Sciences, Asan Medical Center

• desmoid tumor
• fibromatosis
• head neck
• national cancer database

• Male
• Middle Aged
• Humans
• Female
• Retrospective Studies
• Survival Analysis
• Cohort Studies
• Head
• Fibroma
• Head and Neck Neoplasms/therapy

• Humans
• Nerve Sheath Neoplasms/diagnosis
• Nerve Sheath Neoplasms/surgery
• Nerve Sheath Neoplasms/pathology
• Neurilemmoma/diagnosis
• Neurilemmoma/surgery
• Peripheral Nervous System Neoplasms/diagnosis
• Peripheral Nervous System Neoplasms/surgery
• Pain
• Peripheral Nerves

• Cancer
• GIST
• Gamma secretase
• Sarcoma
• Targeted therapy

• Humans
• Fibromatosis, Aggressive/drug therapy
• Fibromatosis, Aggressive/pathology
• Amyloid Precursor Protein Secretases/therapeutic use

• American Society of Maxillofacial Surgeons

• APC
• desmoid tumors
• familial adenomatous polyposis
• treatment

• Breast Implant
• Capsular Contracture
• Mouse Model
• Tamoxifen

• F32 HL144120 NHLBI NIH HHS
• T32 AI106704 NIAID NIH HHS

• ablation
• complication
• intra-abdominal desmoid tumor
• ultrasound-guided high-intensity focused ultrasound

• Fibromatosis, Abdominal/surgery
• Fibromatosis, Aggressive/diagnostic imaging
• Fibromatosis, Aggressive/surgery
• High-Intensity Focused Ultrasound Ablation/adverse effects
• High-Intensity Focused Ultrasound Ablation/methods
• Humans
• Retrospective Studies
• Treatment Outcome
• Ultrasonography, Interventional

• Aggressive fibromatosis
• Desmoid tumor
• Desmoid-type fibromatosis
• Fibromatosis
• Soft tissue sarcoma

Anticancer drugs and molecular targeted therapies are used for refractory desmoid-type fibromatosis (DF), but occasionally cause severe side effects. The purpose of this study was to identify an effective drug with fewer side effects against DF by drug repositioning, and evaluate its efficacy. FDA-approved drugs that inhibit the proliferation of DF cells harboring S45F mutations of CTNNB1 were screened. An identified drug was subjected to the investigation of apoptotic effects on DF cells with analysis of Caspase 3/7 activity. Expression of β-catenin was evaluated with western blot analysis, and immunofluorescence staining. Effects of the identified drug on in vivo DF were analyzed using Apc1638N mice. Auranofin was identified as a drug that effectively inhibits the proliferation of DF cells. Auranofin did not affect Caspase 3/7 activity compared to control. The expression level of β-catenin protein was not changed regardless of auranofin concentration. Auranofin effectively inhibited the development of tumorous tissues by both oral and intraperitoneal administration, particularly in male mice. Auranofin, an anti-rheumatic drug, was identified to have repositioning effects on DF. Since auranofin has been used for many years as an FDA-approved drug, it could be a promising drug with fewer side effects for DF.

• Cryoablation
• Desmoid
• Ultrasound
• chemotherapy
• tumor

• Amyloid Precursor Protein Secretases/therapeutic use
• Anthracyclines/therapeutic use
• Anti-Inflammatory Agents/therapeutic use
• Fibromatosis, Aggressive/drug therapy
• Fibromatosis, Aggressive/pathology
• Humans
• Neoplasm Recurrence, Local/drug therapy
• Protein Kinase Inhibitors/therapeutic use

• Aggressive fibromatosis
• Desmoid-type fibromatosis
• Hydronephrosis
• Radiation therapy

• aggressive fibromatosis
• desmoid tumors
• fibromatosis
• rare tumors

Hereditary colorectal cancer (HCRC) accounts for < 5% of all colorectal cancer cases. Some of the unique characteristics commonly encountered in HCRC cases include early age of onset, synchronous/metachronous cancer occurrence, and multiple cancers in other organs. These characteristics necessitate different management approaches, including diagnosis, treatment or surveillance, from sporadic colorectal cancer management. There are two representative HCRC, named familial adenomatous polyposis and Lynch syndrome. Other than these two HCRC syndromes, related disorders have also been reported. Several guidelines for hereditary disorders have already been published worldwide. In Japan, the first guideline for HCRC was prepared by the Japanese Society for Cancer of the Colon and Rectum (JSCCR), published in 2012 and revised in 2016. This revised version of the guideline was immediately translated into English and published in 2017. Since then, several new findings and novel disease concepts related to HCRC have been discovered. The currently diagnosed HCRC rate in daily clinical practice is relatively low; however, this is predicted to increase in the era of cancer genomic medicine, with the advancement of cancer multi-gene panel testing or whole genome testing, among others. Under these circumstances, the JSCCR guidelines 2020 for HCRC were prepared by consensus among members of the JSCCR HCRC Guideline Committee, based on a careful review of the evidence retrieved from literature searches, and considering the medical health insurance system and actual clinical practice settings in Japan. Herein, we present the English version of the JSCCR guidelines 2020 for HCRC.

• Familial adenomatous polyposis
• Guidelines
• Hereditary colorectal cancer
• Lynch syndrome

Extra-abdominal desmoid tumor fibromatosis (DTF) is a rare, locally aggressive soft tissue tumour. The best treatment modality for this patient cohort is still object of debate.

This paper aimed to (1) to compare the outcomes of DTF after different treatment modalities, (2) to assess prognostic factors for recurrence following surgical excision, and (3) to assess prognostic factors for progression during observation.

This was a retrospective multicenter study under the patronage of the European Musculoskeletal Oncology Society (EMSOS). All seven centres involved were tertiary referral centres for soft tissue tumours. Baseline demographic data was collected for all patients as well as data on the diagnosis, tumour characteristics, clinical features, treatment modalities and whether they had any predisposing factors for DTF.

Three hundred eighty-eight patients (240 female, 140 male) with a mean age of 37.6 (±18.8 SD, range: 3–85) were included in the study. Two hundred fifty-seven patients (66%) underwent surgical excision of ADF, 70 patients (18%) were observed without therapy, the residual patients had different conservative treatments. There were no significant differences in terms of tumour recurrence or progression between the different treatment groups. After surgical excision, younger age, recurrent disease and larger tumour size were risk factors for recurrence, while tumours around the shoulder girdle and painful lesions were at risk of progression in the observational group.

Local recurrence rate after surgery was similar to progression rates under observation. Hence, observation in DTF seems to be justified, considering surgery in case of dimensional progression in 2 consecutive controls (3 and 6 months) and in painful lesions, with particular attention to lesions around the shoulder girdle.

• Aggressive fibromatosis
• Radiation therapy
• Sorafenib
• Systemic therapy

Background: Differential responses to tamoxifen may be due to inter-patient variability in tamoxifen metabolism into pharmacologically active Z-endoxifen. Z-endoxifen administration was anticipated to bypass these variations, increasing active drug levels, and potentially benefitting patients responding sub-optimally to tamoxifen.

Materials and Methods: Patients with treatment-refractory gynecologic malignancies, desmoid tumors, or hormone receptor-positive solid tumors took oral Z-endoxifen daily with a 3+3 phase 1 dose escalation format over 8 dose levels (DLs). Safety, pharmacokinetics/pharmacodynamics, and clinical outcomes were evaluated.

Results: Thirty-four of 40 patients were evaluable. No maximum tolerated dose was established. DL8, 360 mg/day, was used for the expansion phase and is higher than doses administered in any previous study; it also yielded higher plasma Z-endoxifen concentrations. Three patients had partial responses and 8 had prolonged stable disease (≥ 6 cycles); 44.4% (8/18) of patients at dose levels 6–8 achieved one of these outcomes. Six patients who progressed after tamoxifen therapy experienced partial response or stable disease for ≥ 6 cycles with Z-endoxifen; one with desmoid tumor remains on study after 62 cycles (nearly 5 years).

Conclusions: Evidence of antitumor activity and prolonged stable disease are achieved with Z-endoxifen despite prior tamoxifen therapy, supporting further study of Z-endoxifen, particularly in patients with desmoid tumors.

• Z-endoxifen
• pharmacokinetics
• phase 1
• tamoxifen

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

Ligamentoid fibromatosis is a rare borderline tumor that occurs in the muscles, fascia, and aponeurosis. It is a kind of soft tissue tumor of fibrous origin, also known as invasive fibromatosis, desmoid fibroma, neurofibromatosis, etc. The tumor is between benign and malignant tumors and rarely has distant metastasis. Its characteristics are mainly local invasion, destruction and growth and easy recurrence. The World Health Organization defines it as a fibroblast cloning value-added lesion originating from deep soft tissue, which causes local invasion and growth leading to tissue reconstruction, extrusion and destruction of important structures and organs. The incidence rate accounts for 0.03% of all tumors and less than 3% of all soft tissue tumors. Definite diagnosis mainly depends on postoperative pathology. Surgical resection is still the main way to treat the disease, and a variety of nonsurgical treatment methods are auxiliary. Combined treatment can effectively reduce the risk of postoperative recurrence.

The patient is a 57-year-old female. One week ago, she accidentally found a mass in the left upper abdomen while lying flat. There was no abdominal pain and abdominal distention, no fever, no black stool and blood in the stool and no nausea and vomiting. She had a 10-year history of glaucoma on the left side, underwent hysterectomy for uterine fibroids 5 years ago, had no hypertension, heart disease, diabetes, hepatitis or tuberculosis, had no history of smoking and had been drinking for 20 years.

Accurate preoperative diagnosis is difficult, surgical resection is the main treatment, and a variety of nonsurgical treatment methods are auxiliary. Combined treatment can effectively reduce the risk of postoperative recurrence. The prognosis is still good, and the risk of recurrence of secondary surgery is greatly increased.

• Ligamentoid fibromatosis
• Borderline tumor
• Pathology
• Surgery
• Combined treatment
• Small mesenteric
• Case report

• Desmoid biopy
• Desmoid regression
• Extra-abdominal desmoid
• Fibromatosis

• Administration, Oral
• Adolescent
• Adult
• Aged
• Antineoplastic Agents, Phytogenic/administration & dosage
• Biomarkers, Tumor/genetics
• Female
• Fibromatosis, Aggressive/drug therapy
• Fibromatosis, Aggressive/genetics
• Fibromatosis, Aggressive/mortality
• Fibromatosis, Aggressive/pathology
• Follow-Up Studies
• Humans
• Male
• Middle Aged
• Mutation
• Prognosis
• Response Evaluation Criteria in Solid Tumors
• Retrospective Studies
• Survival Rate
• Vinorelbine/administration & dosage
• Young Adult
• beta Catenin/genetics

Desmoid tumor also called aggressive fibromatosis is a rare type of benign tumor. It is a mesenchymal malignancy without metastatic potential. The standard management is resection, but other options including observation may be discussed. Desmoid-type fibromatosis may occur throughout the body, but the abdominal wall is the most common site. The aim of our study was to assess the clinicoepidemiological profile, prognostic factors, and treatment outcome of desmoid tumors.

A monocentric retrospective study was conducted over a period of 19 years between February 2000 and November 2019 at the oncology department of Salah Azaïz Institute. Our study concerns 30 patients with desmoid tumor. All data regarding patients were obtained from the medical record.

Thirty patients were included. The median age was 35 years with a female predominance (sex ratio = 0.07). A palpable mass was the most common complaint (n = 27). Median tumor size was 5 cm. The principal site of involvement was the abdominal wall (n = 14). Surgery was performed in 27 patients. The histopathology reports listed 14 (52%) cases with negative margins and 13 (48%) cases with positive margins. Radiation therapy was performed in 2 patients. One patient received tamoxifen. Local recurrence occurred in 11 patients. Two patients died of their desmoid tumor. Abdominal wall tumors have less risk of recurrence compared with other sites (p=0.047). Macroscopic margin involvement (R2) was the only prognostic factor influencing disease-free-survival (p=0.034).

Desmoid tumors are aggressive tumors with a tendency for local recurrence. Abdominal wall tumors have less risk of recurrence. Macroscopic margin involvement was the only prognostic factor that affects disease-free-survival.

• benign
• elbow
• malignant
• soft tissue
• tumours

• CTNNB1
• Desmoid tumour
• Gardner syndrome
• Medical therapy
• Patient advocacy groups
• Radiotherapy
• SPAEN
• Surgery
• Treatment algorithm
• β-catenin

• Aggressive fibromatosis
• Case report
• Desmoid tumor
• Fibromatosis
• Intestinal mesentery
• Soft-tissue sarcomas

• Adolescent
• Adult
• Aged
• Biomarkers, Tumor/metabolism
• Child
• Child, Preschool
• Disease-Free Survival
• Estrogen Receptor alpha/genetics
• Estrogen Receptor alpha/metabolism
• Female
• Fibromatosis, Aggressive/diagnosis
• Fibromatosis, Aggressive/metabolism
• Fibromatosis, Aggressive/pathology
• Humans
• Immunohistochemistry
• Infant
• Male
• Middle Aged
• Neoplasm Recurrence, Local
• Poly (ADP-Ribose) Polymerase-1/antagonists & inhibitors
• Poly (ADP-Ribose) Polymerase-1/genetics
• Poly (ADP-Ribose) Polymerase-1/metabolism
• Prognosis
• Receptors, Androgen/genetics
• Receptors, Androgen/metabolism
• Receptors, Progesterone/genetics
• Receptors, Progesterone/metabolism
• Young Adult

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

• Chondrosarcoma
• Chordoma
• Desmoid
• Osteosarcoma
• Radiation therapy

• Desmoid-type fibromatosis
• Marginal resection
• Registry
• Treatment modality

Desmoid tumors are rare locally invasive, benign neoplasms that develop along aponeurotic structures. Current treatment is complicated by associated morbidity and high recurrence rates.

A retrospective, single‐institution review identified 23 patients (age: 16‐77) with extra‐abdominal desmoid tumors who received CT‐guided percutaneous cryoablation as either a first‐line (61%) or salvage (39%) treatment in 30 sessions between 2014 and 2018. Median maximal lesion diameter was 69 mm (range: 11‐209). Intent was curative in 52% and palliative in 48%. Contrast‐enhanced cross‐sectional imaging was obtained before and after treatment in addition to routine clinical follow‐up.

Technical success was achieved in all patients. The median follow‐up was 15.4 months (3.5‐43.4). Symptomatic improvement was demonstrated in 89% of patients. At 12 months, the average change in viable volume was  −80% (range −100% to  + 10%) and response by modified response evaluation criteria in solid tumors (mRECIST) was CR 36%, PR 36%, and SD 28% No rapid postablation growth or track seeding was observed. Four patients underwent repeat cryoablation for either residual or recurrent disease. Two patients sustained a major procedural complication consisting of significant neuropraxia.

Cryoablation for desmoid tumors demonstrates a high degree of symptom improvement and local tumor control on early follow‐up imaging with relatively low morbidity.

• ablation
• aggressive fibromatosis
• cryoablation
• desmoid
• sarcoma

• desmoid-type fibromatosis
• targeted therapy
• tyrosine kinase inhibitor
• γ-secretase inhibitor

• Desmoid-type fibromatosis
• retroperitoneum
• surgery

• case report
• desmoid tumor
• dumbbell-shaped tumor
• head and neck neoplasm
• spinal tumor

• Deep fibromatosis
• desmoid tumor
• pediatric sino-orbital tumor

• EPA
• NSAIDs
• aspirin
• docosahexaenoic acid (DHA)
• inflammation