Desmoid Fibromatosis Research Articles

11513 Background: Desmoid fibromatosis (DF) often occurs during pregnancy/peripartum. Guidance for planning new pregnancies during active surveillance or following DF resection has been limited. Thus, we sought to evaluate outcomes and decision making in the peripartum. Methods: Women of child-bearing age with DF diagnosed between 2000 and 2020 were interviewed about procreation decisions, in a multicenter retrospective observational study (NCT05284305). Pregnancies simultaneous or after diagnosis were analyzed. Primary outcome was DF progression/recurrence within 1 yr postpartum. Secondary outcomes were spontaneous regression, switch to active treatment, and obstetric risks. To estimate probability of progression, a random intercept logistic model was fit to account for correlation of progression in multiple pregnancies in the same patient. Results: Of 483 pts interviewed, 120 (24.8%) postponed, 32 (6.6%) interrupted, and/or 232 (48%) avoided pregnancy (in 93.3%, 50%, and 72.9% of cases because of DF), respectively. 147 pregnancies in 131 pts were concurrent with or after diagnosis: 26 (17.7%, Group A) concurrent with diagnosis, 48 (32.7%, B) after DF resection, and 73 (49.7%, C) with DF on surveillance. Estimated probability of progression was 12.0% (CI 2.0 – 48.4) during pregnancy and 15.8% (5.6 – 37.5) postpartum; for pregnancies after diagnosis (Groups B and C), these rates were 5.1% (0.4 – 40.0) and 9.0% (1.8 – 35.0). On multivariate analysis, age at pregnancy and size of primary DF were significant risk factors for progression (Table). Estimated probability of spontaneous regression was 3.6% (CI 0.2-40.7) during pregnancy and 7.1% (CI 0.3 – 67.2) postpartum. 7/38 (18.4%) spontaneously regressed after pregnancy-related PD, 4/23 (17.4%) in Groups B and C. Treatment for progression was needed in 9/79 (11.4%) postpartum, in 4/63 (6.3%) in Groups B and C. Obstetric complications were comparable to population data in developed countries. Conclusions: After DF diagnosis, pregnancy is safe with a risk of progression of 5% during pregnancy and 9% postpartum. Treatment is needed in only 6%. Spontaneous regression is less common but occurs even after initial progression. Patients decision making about procreation appeared to be influenced by their DF diagnosis. This study supports counseling that fertility options should be fully explored with expert guidance as intervention rates are low. [Table: see text]

BACKGROUND: Desmoid fibromatosis is a rare, sarcoma-like neoplasm that aggressively invades surrounding soft tissue and is often quite painful. Surgery has historically been the mainstay of treatment. Given the high rates of recurrence and unpredictable nature of the lesions, multidisciplinary therapy may be needed to provide adequate analgesia. CASE REPORT: A 35-year-old woman with a history of inoperable desmoid fibromatosis was evaluated in our chronic pain clinic for chest wall and axillary pain due to tumor recurrence. An erector spinae plane block markedly improved her level of pain and functional status. CONCLUSION: This case report highlights the use of a thoracic erector spinae plane block (ESPB) for an inoperable desmoid tumor of the chest wall. Thoracic ESPB is growing in popularity in the field of interventional pain management, but has few definitive indications due to its relative newness. This case report demonstrates that a thoracic ESPB can be a viable, multiregional pain relief strategy for chest wall tumors since our patient reported enduring pain relief, an improved quality of life, and decreased opioid use as a result of the procedure. KEY WORDS: Erector spinae plane block, desmoid fibromatosis, chronic pain, desmoid tumor, regional anesthesia, case report

Prolonged Normothermic Machine Perfusion: Buying More Time for Liver Graft Assessment and Repair.

Background. Desmoid fibromatosis (DF) is a rare mesenchymal tumor with invasive growth, a high relapse rate, and low incidence (24 cases per 1 million people per year). Given the small number of patients with DF and, as a result, the lack of knowledge of this disease, the search for molecular predictors of the disease course and the individualization of treatment and prevention is relevant.
 Aim. To study tumor cells' molecular genetic and immunohistochemical profile and determine their clinical significance in patients with abdominal and retroperitoneal DF.
 Materials and methods. A comprehensive analysis of clinical and laboratory data of 31 patients with abdominal and retroperitoneal DF, a molecular genetic and morphological study of tumor samples was performed, including next-generation sequencing (NGS) using the Onconetix oncology panel and an immunohistochemical study using antibodies to -catenin and estrogen and progesterone receptors.
 Results. NGS testing showed somatic mutations in 28 (90%) of the 31 tumor samples. Somatic mutations in the CTNNB1 gene were detected in 26 (84%) tumor samples: 21 (68%) patients had c.121AG (p.Thr41Ala, rs121913412), 3 (10%) patients had c.134CT (p.Ser45Phe, rs121913409), 1 (3%) patient had c.133TC (p.Ser45Pro, rs121913407), and 1 (3%) patient had c.122CT (p.Thr41Ile, rs121913413). Two (6%) patients had mutations in the APC gene: c.4381GT (p.Glu1461Ter, COSM30779) and c.4634CA (p.Ser1545Ter, rs863225356). In 3 (9%) patients, no mutations were detected in the studied genes. The immunohistochemical study showed the expression of -catenin in the cytoplasm and nuclei of tumor cells in 16 (51.6%) samples. Nuclear expression of estrogen and progesterone receptors was detected in 6 (19%) and 1 (3.2%) samples, respectively. Of 10 patients with established relapses, sequencing (NGS) showed a c.121AG mutation (p.Thr41Ala, rs121913412) in 7; 1 patient had a c.134CT mutation (p.Ser45Phe, rs121913409), and 2 patients had no mutations in tumor samples.
 Conclusion. The combination of factors such as the retroperitoneal DF, the presence of the c.121AG mutation (p.Thr41Ala, rs121913412) in the CTNNB1 gene, female gender, and young age, can warrant assigning the patient to the group with an unfavorable DF prognosis.

Desmoid fibromatosis of the breast is a rare benign condition of the breast (0.2% of breast tumors) that clinically and sonographically mimics breast cancer. The diagnosis is confirmed by histology, allowing the elimination of the main differential diagnosis of this entity which is metaplastic spindle cell carcinoma. Breast fibromatosis is characterized by a local evolution and a tendency to recurrence, hence the interest of surgical excision with healthy margins. Radiation therapy should be discussed in such cases. Through our case and the review of the literature, we will try to focus on the diagnosis of this rare entity and its management because it influences the prognosis.

Desmoid-type fibromatosis are rare intermediate tumors in children and adolescents. Owing to local aggressiveness and relapse, systemic treatment for symptomatic advanced or progressive forms is recommended. Following promising results in adult patients, oral vinorelbine is investigated in young patients. A retrospective review of young patients (<25 years old) with advanced or progressive desmoid type fibromatosis treated with oral vinorelbine in eight large centers of the Société Française des Cancers de l'Enfant was performed. In addition to tumor assessment according to RECIST 1.1, pre-treatment and during-treatment imagery were reviewed centrally to assess tumor volume and estimate fibrosis score through the change in percentage in hypoT2 signal intensity. From 2005 to 2020, 24 patients (median age 13.9 years [range, 1.0-23.0]) received oral vinorelbine. Median number of prior systemic lines of treatment was 1 (range, 0-2), mainly based on intravenous low dose methotrexate and vinblastine. Before vinorelbine initiation, all patients had a progressive disease: radiological for 19, radiological and clinical (pain) for three and only clinical for two. Oral vinorelbine was delivered for a median duration of 12 months (range, 1-42). The toxicity profile was favorable, with no grade 3-4 event. Overall response estimated on 23 evaluable patients according to RECIST 1.1 criteria was three partial responses (13%), 18 stabilization (78%) and two progressive disease (9%). Overall progression-free survival was 89.3% (95% confidential intervals 75.2-100) at 24 months. Four stable tumors according to standard RECIST criteria displayed a partial response with > 65% tumor volume reduction. Among 21 informative patients, the estimated fibrosis score decreased for 15 patients, was stable for four patients and increased for two patients. Oral vinorelbine seems to be effective to control advanced or progressive desmoid type fibromatosis in young patients, with a well-tolerated profile. These results support testing this drug as first-line alone or in combination to improve response rate while preserving quality of life.

Sinonasal Myxoma: A Distinct Entity or a Myxoid Variant of Desmoid Fibromatosis?

Desmoid Fibromatosis (DF) is locally aggressive benign fibroblastic or myofibroblastic tumor with no metastatic potential, but has high recurrence rate. The symptoms vary according to tumor location, abdominal or extra-abdominal.

Desmoid fibromatosis is a myofibroblastic neoplasm of intermediate biologic potential, which has a strong predilection for local recurrence but does not metastasize. Arranged in long, sweeping fascicles with infiltrative borders, desmoid fibromatosis typically consists of uniform, bland myofibroblastic spindle cells that harbor mutation of CTNNB1 (or less often APC). In this report, we present a remarkable case of desmoid fibromatosis associated with striking nuclear pleomorphism. We hypothesize that this striking pleomorphism is due to a germline TP53 mutation, a finding first suspected due to strong and diffuse p53 staining by immunohistochemistry and subsequently confirmed by molecular testing. The combination of the pleomorphism and TP53 mutation in desmoid fibromatosis represents a novel finding unreported in the literature.

Desmoid tumors alternatively known as aggressive fibromatosis are benign myofibroblastic neoplasms originating from the muscle aponeurosis and classified as deep fibromatoses and these tumors are non-cancerous growth that occurs in the connective tissue. These tumors constitute 3% of all soft tissue tumors and 0.03% of all neoplasms and they occur usually between the age group of 20-40 years with a strong prevalence among women with fertile age group. In female patients presenting a tumor of the lower abdominal wall especially after cesarian section, an endometriotic tumor as well as an aggressive desmoid tumor should be considered. Symptoms in correlation with the monthly period can facilitate the presurgical differentiation between endometriosis and fibromatosis. Ultrasound reveals the typical location of both tumors and its remarkable sonographic appearance. In the clinical practice, the desmoid fibromatosis of the lower abdominal wall is a very rare disease. We present a case of a 19-year-old pregnant and discuss diagnostic and therapeutic options by literature review. With the knowledge of the prognosis of the desmoid fibromatosis and the respective treatment options including wait and see, complete surgical resection with macroscopically free margins and adjuvant approaches is essential to avoid further interventions and progression of the locally destructive tumor.&#x0D; EMCJ. July 2022; 7(2): 28-31

Retroperitoneal desmoid-type fibromatosis is a rare benign mesenchymal neoplasm that develops as a result of fibroblastic proliferation within the musculoaponeurotic stroma. The authors present the case of a 41-year-old male patient who was referred for a retroperitoneal neoplasm. A mesenteric mass core biopsy was done, and it revealed a low-grade spindle cell lesion consistent with desmoid fibromatosis.

Desmoid fibromatosis (DSM) is a rare, locally aggressive mesenchymal tumor genetically characterized by mutations in the CTNNB1 gene. A local control rate of up to 65‒80% for DSM is achieved with multiple modality treatments, including watchful monitoring, radiation therapy, chemotherapy, and surgery. However, several variables, such as age < 30years, extremity tumor location, and tumor size of > 10cm in diameter, are associated with poor local control rates in patients with DSM. The definitive treatments for DSM have not been established. Therefore, it is necessary to develop novel treatments for DSM. Moreover, although patient-derived tumor cell lines are potent tools for preclinical research, no DSM cell lines have been reported. Therefore, this study aimed to establish and characterize a novel DSM cell line for preclinical studies on DSM. Herein, we established the first cell line derived from a patient with DSM exhibiting poor prognostic factors (27-year-old male patient with a DSM tumor of > 10cm in diameter located at the lower extremity) and named it NCC-DSM1-C1. NCC-DSM1-C1 cells had a T41A mutation in CTNNB1 and exhibited constant proliferation, spheroid formation, and invasion capability in vitro. Screening of antitumor agents in NCC-DSM1-C1 cells showed that bortezomib and romidepsin are effective against DSM. In conclusion, we report the first officially characterized DSM cell line derived from a patient with DSM exhibiting factors associated with poor prognosis. We believe that NCC-DSM1-C1 cell line is a useful tool for developing novel treatments for DSM.

Desmoid Fibromatosis Infiltrating Left Adrenal Gland and Kidney

Desmoid type fibromatosis in pediatric and young adults from French databases: Clinical characteristics and initial outcome according to age

A Case of Mesenteric Desmoid Fibromatosis that could have been Removed by Laparoscopic Surgery

A Case of Giant Mesenteric Desmoid Fibromatosis (30 cm in Diameter) with Abscess Formation

Desmoid fibromatosis is a very slowly growing benign fibroblast tumor. Locally aggressive and non-metastasizing, it is a well-differentiated, unencapsulated monoclonal myofibroblastic proliferation that has a tendency for local invasion and recurrence. About 15% of all desmoidtype fibromatosis develops within the head and neck. The majority of head and neck desmoid tumor is located in the neck, but less frequently in the face, scalp, oral cavity, mandible, paranasal sinuses, orbit, ear and other structures. We report a very rare case in a 55-year-old female of a desmoid fibromatosis arising from the lateral nasal wall of anterior portion of uncinated process. We discuss the clinicopathologic features and successful treatment of nasal desmoid tumor with a literature review.

Pregnancy-associated desmoid fibromatosis: A Dutch multi-centre retrospective study

Data on the impact of desmoid type fibromatosis (DTF) on emotional distress and health-related quality of life (HRQoL) is sparse. In this prospective cross-sectional study, patients with DTF and healthy controls were asked to fill the EORTC QLQ-C30, GAD-7, and PHQ-9 questionnaires. The objectives were to determine HRQoL, anxiety, and depression in patients with DTF. Two hundred four subjects (102 DTF patients and 102 healthy controls) were recruited. The median age of DTF patients at recruitment into the study was 31years (IQR, 25-37years). There was a female preponderance with a male:female ratio of 1:1.83. Appendicular skeleton and abdomen sites were most commonly involved in 59% and 22.5% respectively. About half (54%) of patients were currently on sorafenib and 41% were under active surveillance. The mean global health status in DTF patients was 65.58 ± 22.64, significantly lower than healthy controls. Similarly, DTF patients scored low on all functional scales except cognitive functioning. The symptom scale showed a significantly higher symptom burden of fatigue, pain, insomnia, and financial difficulties. Anxiety and depression was observed in 39.22% and 50% of DTF patients respectively. DTF patients had higher rates of mild, moderate, and severe anxiety and depression compared to healthy controls. DTF patients have significant symptom burden, poor functioning, and heightened anxiety and depression as compared to healthy controls. HRQoL, anxiety, and depression should be routinely used to assess symptom burden and treatment efficacy in DTF patients.

Desmoid fibromatosis (DF) are mesenchymal neoplasms, with potential aggressive course and relevant clinical impact. New systemic therapy modalities are needed in this symptomatic/progressive population. In this multicenter, phase II trial (NCT03275818), patients with symptomatic/progressing DF received three cycles of weekly nab-paclitaxel. Brief pain inventory short form (BPI-SF) was collected at baseline and in every visit. MRI was performed every 3 months. Primary composite endpoint was RECIST 1.1 overall response rate (ORR) and/or clinical response (improvement ≥ 2 points in BPI-SF). If 40% of patients achieved clinical/radiological response, further investigation would be warranted. Toxicity, progression-free survival (PFS), pattern of response and its correlation with clinical best response and BPI, variation of physical function, and analgesic consumption were secondary endpoints. The translational research reported was not a pre-specified secondary outcome. Forty eligible patients started therapy, being 35 radiologically and clinically evaluable. The study achieved its primary endpoint, as 7(20%) patients obtained RECIST partial response, whereas 31(89%) experienced pain reduction of ≥2 points in BPI-SF worst pain. Therapy was well tolerated. With a median follow-up of 30(14–44) months, median 12 and 24-months PFS rates were 91%(CI 95%, 82–100) and 84%(CI 95%, 71–97). For clinical progression, 12 and 24-months PFS rates were 85% (CI 95%, 73–97) and 74% (CI 95%, 58–90) respectively. Short course of nab-paclitaxel is active, safe and achieves quick and durable responses in progressing/symptomatic DF patients.