• APC gene
• Familial adenomatous polyposis
• Gen APC
• Genetic mutation
• Poliposis adenomatosa familiar
• Variante patogénica

• Humans
• Adenomatous Polyposis Coli/genetics
• Adenomatous Polyposis Coli/complications
• Male
• Female
• Middle Aged
• Adult
• Phenotype
• Aged
• Young Adult
• Mutation
• Desmoid Tumors/genetics
• Desmoid Tumors/etiology
• Genetic Association Studies
• Thyroid Neoplasms/genetics
• Duodenal Neoplasms/genetics

• Colectomy
• Desmoid Tumors
• Familial Adenomatous Polyposis

• Humans
• Adenomatous Polyposis Coli/surgery
• Male
• Female
• Adult
• Anastomosis, Surgical/adverse effects
• Proctocolectomy, Restorative/adverse effects
• Fibromatosis, Aggressive/surgery
• Fibromatosis, Aggressive/etiology
• Fibromatosis, Aggressive/epidemiology
• Middle Aged
• Incidence
• Ileum/surgery
• Rectum/surgery
• Colectomy/adverse effects
• Colectomy/methods
• Young Adult
• Retrospective Studies
• Postoperative Complications/epidemiology
• Postoperative Complications/etiology
• Adolescent

• Child
• Humans
• Adenomatous Polyposis Coli/genetics
• Adenomatous Polyposis Coli/diagnosis
• Early Detection of Cancer/methods
• Early Detection of Cancer/standards
• Gastrointestinal Neoplasms/diagnosis
• Gastrointestinal Neoplasms/genetics
• Genetic Predisposition to Disease
• Genetic Testing/methods
• Neoplastic Syndromes, Hereditary/genetics
• Neoplastic Syndromes, Hereditary/diagnosis
• Peutz-Jeghers Syndrome/genetics
• Peutz-Jeghers Syndrome/diagnosis
• Peutz-Jeghers Syndrome/complications
• Practice Guidelines as Topic
• Risk Assessment/methods
• Risk Assessment/standards

• R37 CA244940 NCI NIH HHS
• St. Baldrick's Foundation (SBF)
• National Cancer Institute (NCI)
• R37CA244940 National Institutes of Health (NIH)

• case report
• desmoid-type fibromatosis
• hydronephrosis
• psoas muscle
• retroperitoneum

• Humans
• Male
• Young Adult
• Desmoid Tumors/complications
• Desmoid Tumors/diagnostic imaging
• Desmoid Tumors/pathology
• Desmoid Tumors/surgery
• Follow-Up Studies
• Hydronephrosis/etiology
• Hydronephrosis/surgery
• Hydronephrosis/diagnosis
• Hydronephrosis/diagnostic imaging
• Incidental Findings
• Psoas Muscles/diagnostic imaging
• Psoas Muscles/pathology
• Tomography, X-Ray Computed
• Ultrasonography
• Retroperitoneal Neoplasms/complications
• Retroperitoneal Neoplasms/diagnostic imaging
• Retroperitoneal Neoplasms/pathology
• Retroperitoneal Neoplasms/surgery

• APC
• desmoid
• familial polyposis
• fibromatosis

• Humans
• Adenomatous Polyposis Coli/diagnosis
• Adenomatous Polyposis Coli/surgery
• Rectum
• Surgeons
• Syndrome
• United States

• adenomatous polyposis coli
• desmoid tumor
• duodenal neoplasm
• familial adenomatous polyposis
• gastric lesion
• genotype-phenotype correlation

• Humans
• Genes, APC
• Fibromatosis, Aggressive/genetics
• Genotype
• Adenomatous Polyposis Coli/genetics
• Adenomatous Polyposis Coli/pathology
• Phenotype
• Stomach Neoplasms/genetics
• Stomach Neoplasms/pathology
• Genetic Association Studies
• Mutation

• 19ck0106271h0003 Japan Agency for Medical Research and Development
• Japan Agency for Medical Research and Development

• Anastomotic leakage
• Familial adenomatous polyposis
• Superior rectal artery preservation
• Surgical complications
• Total colectomy/ileorectal anastomosis

• Humans
• Male
• Female
• Young Adult
• Adult
• Middle Aged
• Anastomotic Leak/etiology
• Anastomotic Leak/prevention & control
• Anastomotic Leak/surgery
• Retrospective Studies
• Ileum/surgery
• Rectum/surgery
• Anastomosis, Surgical/adverse effects
• Anastomosis, Surgical/methods
• Adenomatous Polyposis Coli/surgery
• Colectomy/adverse effects
• Colectomy/methods
• Arteries/surgery

• APC
• desmoid tumors
• familial adenomatous polyposis
• treatment

• Aggressive fibromatosis
• Burden
• Desmoid tumors
• Epidemiology
• Quality of life
• Soft-tissue tumor

• Humans
• Fibromatosis, Aggressive/diagnosis
• Fibromatosis, Aggressive/therapy
• Fibromatosis, Aggressive/pathology
• Quality of Life
• Pain

• Springworks Therapeutics

• APC regulator of WNT signaling pathway
• adaptive sampling
• familial adenomatous polyposis
• multi-gene panel testing
• tumor protein 63

• Chemoprevention
• Colorectal Cancer
• Familial Adenomatous Polyposis
• Nonsteroidal Anti-Inflammatory Agent

• Desmoid tumors
• Familial adenomatous polyposis
• Hereditary disease
• Ileal pouch-anal anastomosis
• Ileorectal anastomosis
• Laparoscopic surgery
• Risk factor

• Humans
• Female
• Adult
• Fibromatosis, Aggressive/complications
• Fibromatosis, Aggressive/surgery
• Adenomatous Polyposis Coli/complications
• Adenomatous Polyposis Coli/surgery
• Fibromatosis, Abdominal/complications
• Fibromatosis, Abdominal/pathology
• Fibromatosis, Abdominal/surgery
• Colectomy

• Endoscopic mucosal resections
• Endoscopic submucosal dissections
• Familial adenomatous polyposis
• Gastric neoplasms

• Japanese Foundation for Research and Promotion of Endoscopy

Desmoid-type fibromatosis, also known as desmoid tumors, are rare fibroblastic neoplasms that account for less than 3% of all soft tissue tumors. Although they are benign neoplasms without metastatic potential, they are known to be locally aggressive and may invade adjacent structures leading to fatal complications.

We describe the case of a 26-year-old woman who presenting with the clinical picture of acute peritonitis. Emergency surgery was performed and a large poorly-circumscribed heterogeneous tumor was found, occupying the jejunum mesentery and infiltrating the jejunal wall causing its perforation into the abdominal cavity. En bloc resection of the tumor and the involved jejunum was performed. Histology and immunohistochemistry confirmed it to be mesenteric desmoid-type fibromatosis. The postoperative course was uneventful and the patient had no evidence of recurrence 18 months after tumor resection.

Mesenteric desmoid-type fibromatosis is a rare condition with insidious growth and locally aggressive behavior. Serious complications such as bowel perforation are rare but possible, as shown in our presentation. Complete surgical resection is the first-line treatment bur high recurrence rates remain problematic.

•

Desmoid-typefibromatosis are rare fibroblastic neoplasms that account for less than 3% of all soft tissue tumors.

• 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

• Colectomy
• Desmoid tumours
• Familial adenomatous polyposis
• Meta-analysis

• familial adenomatous polyposis
• genomic variant
• hereditary
• osteomas

• Desmoid tumor
• USgHIFU
• ablation
• aggressive fibromatosis
• high-intensity focused ultrasound (HIFU)

• Abscess
• Desmoid fibromatosis
• Retroperitoneal mass
• Soft tissue tumor
• Tamoxifen

Abdominal desmoids are rare fibroblastic tumors. Though these tumors do not display metastatic potential, their locally aggressive nature can cause severe outcomes. Most cases appear sporadically, but 5–15% are associated with familial adenomatous polyposis (FAP) syndrome. Current consensus recommendations do not offer a standard sequence of therapy due to the lack of data for some treatment options. Here, we present an ongoing clinical experience with abdominal desmoids. The majority of our patients suffered severe outcomes such as need for surgery or major tumor complications. A small, but unique group of 16 non-FAP mesenteric desmoid was found to harbor genetic alterations in cancer associated genes other than APC, including CHEK2, BLM, ERCC5, MSH6, and PALB2.

Introduction: Abdominal desmoid tumors are locally aggressive tumors that develop in familial adenomatous polyposis (FAP) patients, within the mesentery or abdominal wall. The understanding and implications of the treatment regimens are evolving. Aim: To assess the course, treatment, and outcomes of FAP and non-FAP abdominal desmoids and their related genetic alterations. Methods: Retrospective cohort study. Demographics, tumor characteristics, oncological and surgical history, complications, genetic-testing, and mortality data were retrieved from two tertiary referral centers. Results: Sixty-two patients were identified (46 FAP and 16 non-FAP). Thirty-eight patients (61.3%) underwent surgical procedures (12 urgent and 26 elective). Out of 33 tumor resections, 39.4% recurred. Hormonal therapy, COX-inhibitors, chemotherapy, imatinib, and sorafenib were used in 35 (56.4%), 30 (48.4%), 18 (29.1%), 7 (11.3%), and 8 (12.9%) of patients, respectively, with a 2 year progression-free survival of 67.8%, 57.7%, 38.4%, and 28.5%, respectively. Forty-one patients (66.1%) suffered complications: bowel obstruction (30.6%), hyperalimentation (14.5%), ureteral obstruction (12.9%), perforation (11.3%), abscess formation (3.2%), and spinal cord compression (3.2%). Non-FAP patients carried pathogenic mutations in CHEK2, BLM, ERCC5, MSH6, and PALB2. Conclusions: Abdominal desmoids are mostly FAP-related and are associated with severe outcomes. We also report a group of non-FAP abdominal desmoids, which includes patients with additional cancer-related gene alterations. This interesting group should be further explored.

• desmoid tumor
• familial adenomatous polyposis
• next generation sequencing

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

• Adolescence
• Desmoid
• FAP
• Familial adenomatous polyposis

• colorectal surgey
• gastrointestinal diseases
• genetic association studies
• genetic carrier screening
• genetic testing

• APC
• Gardner syndrome
• WNT
• familial adenomatosis polyposis
• medulloblastoma

• Beta-catenin
• CTNNB1
• Desmoid fibromatosis
• Familial Adenomatous Polyposis (FAP)

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

Gardner syndrome is a subtype of familial adenomatous polyposis (FAP), characterized by a combination of adenomatous intestinal polyps and extracolonic lesions such as multiple osteomas, dental abnormalities, and soft tissue tumors. Although 12% of patients with intestinal polyposis of FAP may occur intra-abdominal desmoid tumors, pregnancy complicating with giant abdominal desmoid tumors is a relatively rare case.

A 28-year-old pregnant woman was diagnosed with Gardner syndrome in whom an intra-abdominal tumor was found a year after undergoing a laparoscopic total colectomy due to family adenomatous polyposis. At 32 weeks’ gestation, she presented to our department for the third time complaining upper abdominal pain caused by the giant abdominal mass about 21 × 12 cm² in size. After multidisciplinary consultation and discussion, the decision of fetal preservation treatment was made. After the delivery of a baby girl, abdominal mass resection was performed, and pathological examination revealed a fibrous adenoma. The patient was discharged after a week and was uneventful in the follow-up for half a year.

Gardner syndrome is characterized by typical syndrome including family adenomatous polyposis and extra-intestinal tissue tumor. Were desmoid tumors rarely as large as fetus and local aggressively. In our case, we selected surgery to remove the intra-abdominal desmoid tumor after the natural delivery of the fetus and no abnormalities were observed during the 6 months follow-up. Women during pregnancy have an increased risk for the development of desmoid tumors, likely with the sex hormone to be one of the triggers. Therefore, we suggested that when a patient with Gardner syndrome desire to conceive again, they should go to the hospital for a regular review at least once every 3 months.

• Case report
• Desmoid tumor
• FAP
• Gardner syndrome
• Pregnancy

• Adult
• Fibromatosis, Aggressive/diagnosis
• Fibromatosis, Aggressive/surgery
• Foot
• Humans
• Neoplasm Recurrence, Local
• Radiotherapy, Adjuvant
• Retrospective Studies

• Cancer
• Colorectal
• Familial adenomatous polyposis
• Management
• Surgical indications

• APC
• Aggressive fibromatosis
• Desmoid tumor
• Fibromatose agressive
• Gardner syndrome
• Polypose
• Syndrome Gardner
• Tumeur desmoïde
• β catenin
• β caténine

• familial adenomatous polyposis
• polyposis

Familial adenomatous polyposis (FAP) is usually caused by germline mutations in the adenomatous polyposis coli (APC) gene. The classic form is characterized by hundreds to thousands of adenomas in the colorectum and early onset colorectal cancer (CRC) if left untreated. FAP is also associated with multiple extra-colonic manifestations such as gastroduodenal polyps, osteomas, epidermoid cysts, fibromas and desmoids. Most desmoid tumours in FAP patients occur intra-abdominally. Approximately 15–20% of the APC mutations are de novo mutations. Somatic mosaicism has been reported in some sporadic cases of polyposis but is probably an underestimated cause of the disease. This case report presents the detection of a mosaic APC mutation in a 26-year-old woman who as a child had been diagnosed with desmoid type fibromatosis. FAP was suggested when she presented with extensive extra abdominal fibromatosis. Our findings indicate that APC mutations may be suspected in patients presenting with a desmoid regardless of its location. If there is clinical evidence that the patient has FAP, adenomas and colonic mucosa in addition to leukocyte DNA should be included in the screening, preferably using methods that are more sensitive than Sanger sequencing.

• APC gene
• Desmoid type fibromatosis
• Desmoids
• Familial adenomatous polyposis
• Mosaicism

• colorectal cancer
• genetic testing
• genetics
• hereditary
• hereditary syndromes

• Adult
• Colonic Neoplasms/genetics
• Colonic Neoplasms/nursing
• Female
• Gene-Environment Interaction
• Genetic Predisposition to Disease
• Genetic Testing
• Humans
• Mutation

Laparoscopy is used increasingly in prophylactic surgery for patients with familial adenomatous polyposis (FAP) undergoing colectomy with ileorectal anastomosis (IRA). Little is known about the impact of laparoscopy on subsequent desmoid risk. This study documented the risk of desmoid in patients undergoing laparoscopic and open IRA.

This was an observational study of patients with FAP and known germline APC mutation, undergoing IRA at a tertiary referral centre between 1996 and 2016. Patients were retrieved from a prospectively maintained polyposis registry. Data included genotype, family history of desmoid, sex, surgical approach at IRA and postoperative complications. The main outcome was development of either a clinically or radiologically significant desmoid.

Some 112 patients (61 female) underwent colectomy and IRA. A laparoscopic approach was used in 69 patients (61·6 per cent). Baseline characteristics did not differ between patients having an open or laparoscopic approach. Median follow‐up was 5·8 (i.q.r. 2·4–11·2) years. Patients who underwent laparoscopic IRA had a reduced risk of desmoid formation (3 of 69 (4 per cent) versus 7 of 43 (16 per cent) in the open group; P = 0·043).

Laparoscopic IRA may reduce risk of subsequent desmoid formation in patients with FAP.

• aggressive fibromatosis
• biomarkers
• cyclins
• immunohistochemistry
• prognostic factors

• Familial adenomatous polyposis
• Mesenchymal tumour
• Small bowel mesentery
• Ureteric obstruction

• Desmoid
• Familial adenomatous polyposis
• Gastric adenoma
• Gastric cancer

Desmoid-type fibromatosis (DF) is a aggressive (myo)fibroblastic neoplasm with an infiltrative growth and a tendency to local recurrence. Resection of the tumour and/or radiation were proposed as principal treatment. The aim of this retrospective study was to analyze the local control rates focusing on the effect of surgical margins and radiotherapy.

From 1981 to 2014, 44 patients had been treated. Fifty four therapies had been applied, in 50 cases surgery +/− radiation therapy, NSAIDs or chemotherapy. In 4 cases a conservative approach was chosen. Thirty seven patients had primary, 17 recurrent disease. Endpoint was either local recurrence (LR), progression of residual disease or rare non-metastatic secondary lesions at the same extremity.

The mean age was 39,4 years. In 17 cases a R0, in 27 a R1 and in 6 cases a R2 resection was achieved. Four patients were treated conservatively. All together in 21 cases radiotherapy, in 5 NSAIDs, in 3 imatinib and in 2 cases each tamoxifen or chemotherapy had been applied. The median follow-up was 119 months. 5-year recurrence free survival after resection was 78%. 10 (20.4%) patients developed LR between 5 and 42 months after therapy. Recurrent disease was a negative factor on LR. Margins, radiotherapy, sex, or size of the tumour had no significant impact on LR. Patients younger than 40 years had a significant higher risk of LR.

Surgical margins are less important than keeping function. Radiotherapy might be an option in unresectable lesions, the role of adjuvant radiotherapy is controversially discussed.

• Desmoid
• Extra-abdominal
• Fibromatosis
• Prognosis
• Recurrence

• Familial adenomatous polyposis
• Hereditary nonpolyposis colorectal cancer
• Inherited colon cancer
• Lynch syndrome
• MUTYH-associated polyposis
• Serrated polyposis syndrome

• Chemotherapy
• Desmoid tumor
• Familial adenomatous polyposis
• Pharmacological treatment