Giant desmoid fibromatosis of chest wall: A case report

No abstract

Fibromatosis of the breast is a rare soft tissue lesion that arises from the mammary tissue or the pectoral fascia. We present a case of fibromatosis in a 39-year-old male patient who developed a right lateral breast mass in several weeks without prior trauma or surgery. Ultrasound-guided core needle biopsy findings included differential diagnoses of nodular fasciitis and fibromatosis. The patient was referred to a breast surgeon and underwent excisional biopsy. Final pathology report confirmed fibromatosis. The patient tolerated the surgery well and will continue to follow up post-operatively for recurrence.

Objective: To assess tumour behaviour and the efficacy of active surveillance (AS) in patients with desmoid-type fibromatosis (DTF). Summary background data: AS is recommended as initial management for DTF patients. Prospective data regarding the results of AS are lacking. Methods: In this multicentre prospective cohort study (NTR4714), adult patients with non-intra-abdominal DTF were followed during an initial AS approach for 3 years. Tumour behaviour was evaluated according to RECIST. Cumulative incidence of the start of an active treatment and progression-free survival (PFS) were calculated using the Kaplan-Meier method. Factors predictive for start of active treatment were assessed by Cox regression analyses. Results: A total of 105 patients started with AS. Median tumour size at baseline was 4.1 cm (IQR 3.0-6.6). Fifty-seven patients had a T41A CTNNB1 mutation; 14 patients a S45F CTNNB1 mutation. At 3 years, cumulative incidence of the start of active treatment was 30% (95% CI 21-39) and PFS was 58% (95% CI 49-69). Median time to start active treatment and PFS were not reached at a median follow-up of 33.7 months. During AS, 32% of patients had stable disease, 28% regressed and 40% demonstrated initial progression. Larger tumour size (?5 cm; hazard ratio (HR) = 2.38 [95% CI 1.15-4.90]) and S45F mutation (HR = 6.24 [95% CI 1.92-20.30]) were associated with the start of active treatment. Conclusions: The majority DTF patients undergoing AS do not need an active treatment and experience stable or regressive disease, even after initial progression. Knowledge about the natural behaviour of DTF will help to tailor the follow-up schedule to the individual patient.

Approximately 80% of desmoid tumors (DTs) show spontaneous regression or disease stabilization during first-line active surveillance. Medical treatment can be considered in cases of disease progression. This systematic review aimed to evaluate the effectiveness and toxicity of each medical treatment by reviewing only the studies that included progressive disease as the inclusion criterion. We searched the EMBASE, PubMed, and CENTRAL databases to identify published studies for progressive DTs. The disease control rates of the medical treatments, such as low-dose chemotherapy with methotrexate plus vinblastine or vinorelbine, imatinib, sorafenib, pazopanib, nilotinib, anlotinib, doxorubicin-based agents, liposomal doxorubicin, hydroxyurea, and oral vinorelbine for progressive DTs were 71-100%, 78-92%, 67-96%, 84%, 88%, 86%, 89-100%, 90-100%, 75%, and 64%, respectively. Low-dose chemotherapy, sorafenib, pazopanib, nilotinib, anlotinib, and liposomal doxorubicin had similar toxicities. Sorafenib and pazopanib were less toxic than imatinib. Doxorubicin-based chemotherapy was associated with the highest toxicity. Hydroxyurea and oral vinorelbine exhibited the lowest toxicity. Stepwise therapy escalation from an initial, less toxic treatment to more toxic agents is recommended for progressive DTs. Sorafenib and pazopanib had limited on-treatment side effects but had the possibility to induce long-term treatment-related side effects. In contrast, low-dose chemotherapy has some on-treatment side effects and is known to have very low long-term toxicity. Thus, for progressive DTs following active surveillance, low-dose chemotherapy is recommended in young patients as long-term side effects are minor, whereas therapies such as sorafenib and pazopanib is recommended for older patients as early side effects are minor.

Introduction/aim: The epidemiology, demographic, clinical, treatment, and healthcare resource utilization (HRU) characteristics of desmoid tumor (DT) patients treated at two sarcoma centers in Denmark is described. Methods: Using Danish health registers, we studied DT patients treated at two sarcoma centers between 2009 and 2018. For each patient, ten persons from the general population were randomly matched on birth year, sex, and region of residence. Results: Of the 179 DT patients identified, 76% were female and the median patient age was 38 years at diagnosis (interquartile range: 31-50). An average annual incidence of DTs over the study period was 3.2 per 1000,000 individuals with the observed annual incidence of DTs ranging from 2.2 (2011) to 4.3 (2017) per 1000,000 individuals. No notable linear time trend in incidence was observed. Anatomical DT sites included extra-abdominal (49%), abdominal wall (40%), and intra-abdominal or retroperitoneal areas (8%). In total, 56% of patients were initially treated surgically. However, while 75% of patients diagnosed with DT between 2009 and 2014 were initially treated surgically, this was true for only 32% of patients diagnosed with DT between 2015 and 2018. A total of 56% of DT patients used chemotherapeutic agents, tyrosine kinase inhibitors, NSAIDs, opioids, antidepressants, or steroids at some point during the three years before their DT diagnoses. In contrast, 70% of surgically treated and 63% of non-surgically treated patients used one of these drugs in the subsequent three years, including NSAIDs (45% surgical vs. 33% non-surgical), opioids (39% surgical vs. 27% non-surgical), and steroids (22% surgical vs. 18% non-surgical). The average number of inpatient and outpatient visits, days of hospitalization, and additional surgical procedures were higher among DT patients than the comparison cohort. Conclusion: DTs are rare but have a large impact on patients’ health, HRU, and medication utilization.

This study aimed to describe the characteristics of superficial desmoid fibromatosis (DF) using two-dimensional and contrast-enhanced ultrasonography, intending to improve diagnostic accuracy. We retrospectively analyzed 19 cases of superficial DF confirmed by surgery or core-needle biopsy in our hospital from January 2018 to August 2020. All patients underwent two-dimensional and contrast-enhanced ultrasound (CEUS) examination. Nineteen patients included 15 women and 4 men, with an average age of 33.37ñ12.13 years old. The mean size of lesions was 4.78ñ1.99 cm. On ultrasound, all lesions presented as solitary heterogeneous hypoechoic masses; 13 presented with ill-defined margins. Ten lesions (52.63%) presented with fusiform shapes, and 11 lesions (57.89%) presented with the “fascial tail” sign. CEUS suggested the tumors were hyperenhanced, with an enhanced pattern of rapid wash-in and slow wash-out. Four lesions (21.05%) showed an enlarged scope in the CEUS image compared with the grayscale ultrasound image. In conclusion, an ill-defined heterogeneous hyperechoic appearance with fusiform-shaped and “fascial tail” signs on US and heterogeneous hyperenhancement with an enlarged scope on CEUS are valuable clues in the diagnosis and treatment of superficial DF.