MRI features that predict progression of residual disease after ablation of extra-abdominal desmoid fibromatosis

OBJECTIVE: To identify MRI features of desmoid tumors (DTs) that predict the growth of residual disease following ablation. METHODS: Patients who underwent MRI-guided ablation for DTs between February 2013 and April 2021 were included in this single-center IRB-approved retrospective study. MRI scans assessed three suspicious tissue features: intermediate T2 signal [+iT2], nodular appearance [+NOD], and contrast enhancement [+ENH]. Percent-monthly change in diameter (PMCD) of suspicious foci determined growth (PMCD > 1%), unchanged (PMCD between -1% and +1%), or regression (PMCD < -1%). Statistical tests compared mean PMCD between groups and evaluated sensitivity and specificity. RESULTS: Thirty-three patients (32 years ± 13.3; 22 females) with 34 DTs underwent 47 MRI-guided ablations, with a median follow-up of 269 days (IQR 147). Of 93 suspicious foci, 62 (67%) grew (PMCD: +5.6% IQR: 5.8), 13 (14%) remained unchanged (PMCD: -0.1% IQR: 0.6), and 18 (19%) regressed (PMCD: -3.9% IQR: 4.2). Features [+iT2], [+ENH], and [+NOD] were associated with PMCDs of +5.2% IQR: 6.0, +3.4% IQR: 6.0, and +3.4% IQR: 6.5, respectively, compared to -1.5% IQR: 4.7 (p < 0.0001), -0.5% IQR: 0.8 (p = 0.003), and +0.4% IQR: 7.5 (p = 0.0056) for their respective negative counterparts. Sensitivity, specificity, and accuracy for distinguishing growth were [+iT2]: 0.95, 0.71, 0.87, [+ENH]: 1.00, 0.32, 0.77, and [+NOD]: 0.84, 0.42, 0.70. Combining [+iT2 + NOD + ENH] yielded PMCD +5.9% IQR: 6.2 and the best performance for distinguishing growth (sensitivity 0.81, specificity 0.94, accuracy 0.85). DISCUSSION: MRI features reliably predict the growth of residual or recurrent DTs post-ablation, with [+iT2] being the most accurate. Adding nodular enhancement to [+iT2] improved specificity without sacrificing accuracy. KEY POINTS: Question Post-ablation imaging of desmoids is challenging due to tumor heterogeneity and treatment-related inflammation. This study evaluates MRI features for assessing future tumor growth. Findings Foci of intermediate T2 signal post-ablation predicted desmoid growth with high sensitivity (0.95), while T2 signal, nodularity, and enhancement combined offer high specificity (0.94). Clinical relevance Intermediate T2 signal predicts desmoid tumor growth post-ablation with high sensitivity and accuracy but moderate specificity. Combining nodularity and enhancement improves specificity and predictive value, helping clinicians in managing desmoid tumor patients post-ablation.

OBJECTIVES: Abdominal wall and intra-abdominal fibromatoses are locally aggressive, nonmetastasizing neoplasms. Surgery has been the mainstay of local control, but new forms of therapy have been developed that may influence the clinical course and morbidity. We studied the clinical features and outcomes of patients with abdominal and intra-abdominal fibromatoses over time. METHODS: Ninety-one patients-46 with abdominal wall and 45 with intra-abdominal fibromatosis-treated in our hospital systems between 2009 and 2023 were included. The patients were allocated to 1 of 2 groups based on the year of their initial treatment: before and including 2016 vs 2017-2023. Medical records and available histologic slides were reviewed. RESULTS: Forty-six patients were treated between 2009 and 2016, and 45 patients were treated between 2017 and 2023. Patient ages ranged from 1 to 85 years (median, 39 years), and most patients (70%) were women (2:2 men to women). Patients self-reported as Hispanic (49%), followed by White (28%), Black (20%), and Asian (3%). A subset (21%) had familial adenomatous polyposis (F.A.P.)/Gardner syndrome. Individuals with intra-abdominal fibromatoses (37%) were more likely to have FAP than individuals with abdominal wall fibromatosis (4%) (P < .0001). The most common initial treatment before and during vs after 2016 was surgical excision (78% and 51% respectively; P = .02), followed by active surveillance with other medical intervention (9% and 18%, respectively; P = .28) and use of tyrosine kinase inhibitors (0% and 18%, respectively; P = .014). The rate of multivisceral transplant in patients with FAP/Gardner syndrome was 47% vs 4% in patients with sporadic disease (P < .001); most transplants (92%) were performed before and during 2016. The overall tumor recurrence/persistence rate in patients who had undergone surgery was 31%. The recurrence/persistence rate in patients treated before and during 2016 was 39% (median follow-up, 24 months), which fell to 13% (median follow-up, 18 months) in individuals treated after 2016 (P = .032). The overall recurrence/persistence rate in patients with FAP/Gardner syndrome was 64% vs 21% in patients with sporadic disease (P = .002). In patients with sporadic disease, there were recurrences in 29% of patients treated before and during 2016 and in 9% of patients treated thereafter (P = .086). Intra-abdominal vs abdominal wall lesions in patients with FAP and in patients with sporadic disease were more likely to recur (26% vs 10% and 16% vs 5%), but this occurrence did not reach statistical significance (P = .15). Most recurrent tumors were treated by surgical re-excision in both groups. CONCLUSIONS: Our data suggest that a combination of less morbid surgical approaches and the addition of nonsurgical approaches (active disease surveillance, use of tyrosine kinase inhibitors and other interventions) have resulted in substantially fewer surgical interventions over time for intra-abdominal and abdominal wall fibromatoses treated between 2009 and 2023. The overall probability of recurrences, however, in patients treated surgically remains similar.

Desmoid fibromatosis (DF) is a rare low-grade benign myofibroblastic neoplasm that originates from fascia and muscle striae. For giant chest wall DF, surgical resection offer a radical form of treatment and the causing defects usually need repair and reconstruction, which can restore the structural integrity and rigidity of the thoracic cage. The past decade witnessed rapid advances in the application of various prosthetic material in thoracic surgery. However, three-dimensional (3D)-printed custom-made titanium ribs have never been reported for chest wall reconstruction post-DF resection. Here, we report a successful implantation of individualized 3D-printed titanium ribs to repair the chest wall defect in a patient with DF.

Background/Objectives: Desmoid-type fibromatosis (DTF) is a locally invasive tumor composed of myofibroblast-like cells and collagen; it does not metastasize but can cause significant local morbidity. Most sporadic cases are associated with mutations in the CTNNB1 gene, which encodes beta-catenin. Various treatments have been used with differing efficacy and toxicity profiles. At our institution, pegylated liposomal doxorubicin (PLD) has become the preferred treatment for patients with DTF. We aim to describe our experience using PLD in patients with DTF who require treatment. Methods: A retrospective review of 61 DTF patients (41 females, 20 males) treated between 2000 and 2023 was conducted to assess the efficacy and toxicity of PLD. Results: Of the 26 patients treated with PLD, 23 had follow-up clinical data to assess benefit. Twenty-one showed clinical benefit, and only one progressed. Two patients did not benefit from PLD due to infusion reactions and chose alternative therapies. The primary side effect of PLD was hand-foot syndrome (HFS), but dose reduction and extended intervals allowed most patients to tolerate treatment. Other treatments, such as methotrexate, vinblastine/vinorelbine, and sorafenib, also showed activity but had significant toxicities, including severe HFS, malaise, and hypertension. Interestingly, 31 out of 61 patients had a pre-existing history of psychiatric conditions (primarily depression and anxiety), and 6 of 41 women had personal or family history of polycystic ovary syndrome (PCOS). Additionally, 15 patients had obesity, and 4 had hypothyroidism. Conclusions: PLD is an effective and well-tolerated treatment for DTF, with good clinical responses at lower, tolerable doses. The association of pre-existing psychiatric diagnoses, PCOS, and obesity warrants further investigation.

Desmoid tumors are a rare entity, especially in the pediatric population. There are no reports of such a tumor in newborns. They are associated with high rates of morbidity and mortality, even though they are benign soft tissue tumors. This is due to them exhibiting locally aggressive growth with the compression or invasion of adjacent structures. Abdominal localization is most commonly reported, although there are reports of mediastinal desmoid tumors. We present the case of a 6-day male patient with a mediastinal desmoid tumor that led to severe aortic coarctation with hemodynamic instability. The tumor also compressed the left pulmonary artery and obstructed the left main bronchus. The initial management consisted of successful emergency surgery with partial resection of the tumor mass and coarctation repair. In the postoperative setting, the patient evolved with severe respiratory dysfunction which was managed with tracheostomy, allowing weaning the child from the mechanical ventilation one month after surgery, along with chemotherapy. We also review the literature, focusing on the management of desmoid tumors.

The prevalence of goiter, thyroid nodules, and thyroid cancers in the pediatric population has increased. In some rare cases, local conditions such as juvenile desmoid-type fibromatosis (JDTF) can mimic specific thyroid pathology, complicating the diagnostic process. A 17-year-old obese adolescent girl was admitted to the Endocrinology Department with progressive swelling on the left side of the neck, persisting for approximately one year, recently accompanied by dysphonia and inspiratory dyspnea, and ultimately diagnosed as a unilateral nodular goiter associated with compressive phenomena. Despite her euthyroid status, the thyroid ultrasound identified a suspected, large, non-homogeneous, hypoechogenic nodule with calcifications in the left thyroid lobe (TI-RADS score of 4), confirmed by a cervical-region MRI. The biopsy specimens obtained through fine-needle aspiration were classified as Bethesda III (atypia of undetermined significance or follicular lesion of undetermined significance). Left thyroid lobe removal was performed by a specialized surgeon in thyroid pathology, with histopathological analysis revealing a diagnosis of JDTF in the thyroid gland. Post-surgery, the patient showed favorable progress without any relapse. Pediatric endocrinologists face challenges in diagnosing and managing thyroid nodules in children due to their higher malignancy potential. Familiarity with similar conditions, such as JDTF, is crucial in accurate diagnosis and appropriate pediatric management.