Surgical combination with radiotherapy for the treatment of postoperative recurrent desmoid-type fibromatosis: A case report

We present a distinctive case of DTF that posed challenges for diagnosis. Patients with superficially located DTF tumors may be more susceptible to tissue damage, and surgeons should exercise extreme caution when making surgical decisions. If surgery is unavoidable, minimizing incisions should be prioritized to prevent the occurrence of new tumors due to trauma. Additionally, prompt postoperative adjuvant radiotherapy may bring therapeutic benefits to DTF patients.

Purpose: In the INTRIGUE trial, ripretinib showed no significant difference versus sunitinib in progression-free survival for patients with advanced gastrointestinal stromal tumour (GIST) previously treated with imatinib. We compared the impact of these treatments on health-related quality of life (HRQoL).

Patients and methods: Patients were randomised 1:1 to once-daily ripretinib 150 mg or once-daily sunitinib 50 mg (4 weeks on/2 weeks off). Patient-reported outcomes were assessed using the European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire for Cancer-30 (EORTC QLQ-C30) questionnaire at day (D)1, and D29 of all cycles until treatment discontinuation. Change from baseline was calculated. Time without symptoms or toxicity (TWiST) was estimated as the mean number of days without progression, death, or grade ?3 treatment-emergent adverse events per patient over 1 year of follow-up.

Results: Questionnaire completion at baseline was 88.1% (199/226) for ripretinib and 87.7% (199/227) for sunitinib and remained high for enrolled patients throughout treatment. Patients receiving sunitinib demonstrated within-cycle variation in self-reported HRQoL, corresponding to the on/off dosing regimen. Patients receiving ripretinib reported better HRQoL at D29 assessments than patients receiving sunitinib on all scales except constipation. HRQoL was similar between treatments at D1 assessments, following 2 weeks without treatment for sunitinib patients. TWiST was greater for ripretinib patients (173 versus 126 days).

Conclusion: Patients receiving ripretinib experienced better HRQoL than patients receiving sunitinib during the dosing period and similar HRQoL to patients who had not received sunitinib for 2 weeks for all QLQ-C30 domains except constipation. Ripretinib may provide clinically meaningful benefit to patients with advanced GIST previously treated with imatinib.

Trial registration: ClinicalTrials.gov NCT03673501.

Desmoid type fibromatosis (DTF) is a rare intermediate soft tissue tumor. Here we report a case of DTF located in the tail of pancreas. A 39-year-old female presented epigastric pain of 1 week duration. An abdominal magnetic resonance imaging revealed a 3.4-cm irregular contour solid mass in the tail of the pancreas that was interpreted by radiology as suspicious for a benign pancreatic tumor. Endoscopic ultrasound (EUS) showed an irregularly shaped hypoechoic, heterogeneous mass within the tail of pancreas invading the adjacent gastric wall, suggesting a diagnosis of malignant pancreatic tumor. Subsequently, surgery consisted of a distal pancreatectomy, splenectomy and combined partial resection of the stomach, was performed. The immunohistochemistry and histopathological features were consistent with a diagnosis of pancreatic desmoid type fibromatosis. EUS is very useful for visually defining the location and character of pancreatic DTF and to determine whether the major vessels and the adjacent organs are infiltrated.

Anterior abdominal wall fibromatosis is a benign soft tissue tumor that is rare, but fast-growing with minimal chances of malignant change. We report a young female with a large abdominal swelling which on evaluation was provisionally diagnosed as anterior abdominal wall fibromatosis on imaging and confirmed by histopathology. She was successfully managed with resection of the tumor with a challenging abdominal wall reconstruction with bilateral inferiorly based external oblique muscle flap followed by a mesh repair. Though rare, these tumors are difficult to miss. The importance of this case report is that it describes the methods of multimodal management of a patient with surgery, reconstruction, and adjuvant therapy leading to better patient outcomes.

Objectives: The development of desmoid tumors (DT) is associated with trauma, which is an aspect with medicolegal relevance. The objective of this study was to analyze the proportion and type of trauma (surgical, blunt/fracture, implants), its lag time, and mutations of the CTNNB1 gene in patients with sporadic DT.

Methods: We analyzed a prospectively kept database of 381 females and 171 males, median age at disease onset 37.7 years (females) and 39.3 years (males) with a histologically confirmed DT. Patients with germline mutation of the APC gene were excluded. Details of the history particularly of traumatic injuries to the site of DT were provided by 501 patients.

Results: In 164 patients (32.7%), a trauma anteceding DT could be verified with a median lag time of 22.9 months (SD, 7.7 months; range, 9-44 months). A prior surgical procedure was relevant in 98 patients, a blunt trauma in 35 patients, a punctuated trauma (injections, trocar) in 18 patients, and site of an implant in 10 patients. In 220 patients, no trauma was reported (43.9%), and 58 females (11.6%) had a postpregnancy DT in the rectus abdominis muscle. In 42 patients (8.4%), data were inconclusive. The distribution of mutations in the CTNNB1 gene (codon 41 vs. 45) was similar in patients with and without a history of trauma before DT development.

Conclusions: A significant subgroup of patients suffers from a trauma-associated DT, predominantly at a prior surgical site including implants to breast or groin, accounting for 77.9% of the cases, whereas blunt trauma was responsible in 22.1%. We found no data to support that trauma-associated DT have different molecular features in the CTNNB1 gene.

A desmoid tumor is a fibroblastic proliferation of mesenchymal origin, which has no metastasizing potential but is locally aggressive. Although treatment has shifted to observation and active surveillance for newly diagnosed patients with desmoid tumors, intra-abdominal mesenteric tumors or tumors that persistently grow and provoke symptoms may need prompt surgical treatment. There have only been a small number of case reports that illustrate large sporadic intra-abdominal mesentery-deriving desmoid tumors in which the longest diameter was ?19 cm. In the present study, an adolescent male patient with a rapidly growing 38-cm long sporadic intra-abdominal desmoid tumor of mesenchymal origin is reported. The patient was treated with chemotherapy followed by surgical resection due to non-responsiveness and progression of symptoms, then with maintenance adjuvant chemotherapy to prevent recurrence due to the large size of the tumor. Despite the rapid growth of the tumor and its high occupancy in the intra-abdominal cavity, an R0 resection was successful with organ preservation. The patient has been recurrence-free for 2 years, and further follow-up is expected in the future.