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Without treatment, familial adenomatous polyposis (FAP) patients will inevitably develop colorectal cancer (CRC) during lifetime. Yet, surgical trauma is a high risk of desmoid tumor (DT), one of the main causes of death in FAP patients. So far, the timing for colectomy is primarily based on the clinician\'s experience and the patient\'s preference; most patients undergo surgery at mid-20\'s. In this study, we analyzed the germline mutation distribution in 35 FAP patients from different families, 16 of them diagnosed with DTs. We also investigated the association between the molecular alterations and the clinicopathological features. Capture-based targeted sequencing using a panel of 520 genes was performed on tumor tissue and paired normal mucosa or white blood cells from 18 FAP probands who were initially diagnosed with CRC. Of all 35 FAP patients, 30 (85.7%) of them harbored germline APC mutations scattered from codon 161 to 1578. The mutations in the 16 DT patients scattered from codon 457 to 1578. All three patients with the mutation at the 3\' of 1444 codon were diagnosed with DT. The percentage of high-risk DT (stage III or IV) harboring mutations at the 5\' of 1062 or 1062-1578 was 14.3% and 77.8%, respectively, and all three patients with 3\' of 1399 codon mutation had high risk. In addition, by using public database, we compared 140 FAP patients with DT to all 1880 FAP patients on the Leiden Open Variation Database and found that the odd ratio of DT in codon 159 to 495 was 0.34, while in codon 1310 to 2011 was 2.36. Compared to sporadic CRCs, the somatic spectrum of FAP CRCs was similar to the early onset CRCs, with higher TP53 (94.1%) and lower somatic APC mutations (65.7%), but the KRAS mutation rate was the highest (58.5%). One of the 18 FAP CRCs was identified as microsatellite instability-high (MSI-H), with tumor mutation burden (TMB) of 115.65 mut/Mb. Given that no TP53 mutations were detected in the low- and high-grade adenomas, ctDNA TP53 sequencing might be used for the close monitoring before FAP colectomy. In conclusion, except mutations at the 5\' end of APC (5\' to 495), all FAP patients need to consider the risk of DT after colectomy. The chance of life-threating DTs was higher in patients with 3\' 1062 codon mutation and peaked in patients with 3\' 1399 codon mutation. Scheduled monitoring of TP53 ctDNA is proposed to be a novel tool for optimizing the operation time.

Mesenteric fibromatosis is a locally invasive myofibroblastic proliferation and rarely metastasize to other organs. Hollow organ perforation and acute diffuse peritonitis caused by mesenteric fibromatosis rarely occurred. Here we report a case of huge mesenteric fibromatosis who complained a paroxysmal epigastric pain, and CT scan showed a huge mass, pneumoperitoneum and ascites. An urgent laparotomy showed an intro-abdominal mass and perforation locating at the jejunum. Postoperative histology confirmed it to be mesenteric fibromatosis. With one-year follow-up, the patient had no recurrence. We wish to share our treating experience of this interesting case because it did not belong to a typical type but presenting with acute diffuse peritonitis, and total resection and R0 margin is a key to treat acute case. This atypical one has not been reported in the literature till now.

OBJECTIVE: The purpose of the study was to review a large series of chest aggressive fibromatosis (AF) cases with an emphasis on the outcomes of different degrees of resection and the value of postoperative radiotherapy.
METHODS: The records of patients with chest AF treated at our hospital from 1982 to 2014 were retrospectively reviewed. Recurrence rates and non-disease survival (NDS) times were compared between the R0, R1, and R2 resection groups.
RESULTS: Forty-seven cases of chest AF were treated during the study period (21 men, 26 women), with an average age at diagnosis of 40 years (range, 9-77 years). One patient died before surgery, and 46 patients received a total of 85 resections. Forty-one patients had complete follow-up data, and the average follow-up time was 125.6 months (range, 11-524 months). Recurrence rates were 6.7%, 92.9%, and 100% for the R0, R1, and R2 resection groups, respectively, and the R0 recurrence rate was significantly lower than the R1 and R2 rates (both P values < 0.001). The NDS time of the R0, R1, and R2 groups was 80.3 ± 64.8, 23.6 ± 38.7, and 9.8 ± 10.8 months, respectively; the NDS time of the R0 group was significantly longer than that of the R1 and R2 groups (both P values < 0.01). Within each resection type, no significant differences were found in the recurrence rates of patients having surgery alone compared with those receiving surgery and radiotherapy (all P values > 0.05).
CONCLUSIONS: R0 resection is the most effective treatment for chest AF. Postoperative radiotherapy did not reduce the recurrence rate.