BACKGROUND: Desmoid fibroma (DF) is a disorder characterized by strong clonal proliferation of myofibroblasts and fibroblasts. We describe a case of DF that mimicked a breast tumor, along with a review of the literature on the clinical manifestation, diagnostic process, and course of therapy for this combative disease.
METHODS: A 34-year-old female patient with breast lump at the junction of the upper quadrants of the left breast. After the diagnosis of DF, it was decided to perform a sectorectomy of the left breast associated with post-quadrant reconstruction, with immunohistochemistry and findings compatible with DF.
CONCLUSIONS: Clinically manifests as a solid mass that is often painless and occasionally adherent to the chest wall. A treatment strategy should be idealized for each patient. Thus, there is the possibility of performing radical surgery for resection and/or radiotherapy, and surgery may be followed by radiotherapy.

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder characterized by severe eczema, recurrent infections, and micro-thrombocytopenia. Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative therapeutic option for patients with classic form. The risk of developing post-transplant tumors appears to be higher in patients with WAS than in other inborn errors of immunity (IEIs), but the actual incidence is not well defined, due to the scarcity of published data.
Herein, we describe a 10-year-old patient diagnosed with WAS, treated with HSCT in the first year of life, who subsequently developed two rare solid tumors, kaposiform hemangioendothelioma and desmoid tumor. A review of the literature on post-HSCT tumors in WAS patients has been performed.
The patient received diagnosis of classic WAS at the age of 2 months (Zhu score = 3), confirmed by WAS gene sequencing, which detected the nonsense hemizygous c.37C>T (Arg13X) mutation. At 9 months, patient underwent HSCT from a matched unrelated donor with an adequate immune reconstitution, characterized by normal lymphocyte subpopulations and mitogen proliferation tests. Platelet count significantly increased, even though platelet count never reached reference values. A mixed chimerism was also detected, with a residual WASP- population on monocytes (27.3%). The patient developed a kaposiform hemangioendothelioma at the age of 5. A second abdominal tumor was identified, histologically classified as a desmoid tumor when he reached the age of 10 years. Both hematopoietic and solid tumors were identified in long-term WAS survivors after HSCT.
Here, we describe the case of a patient with WAS who developed two rare solid tumors after HSCT. An active surveillance program for the risk of tumors is necessary in the long-term follow-up of post-HSCT WAS patients.

Desmoid-type fibromatosis (DF) is a rare monoclonal, fibroblastic proliferation characterized by an unpredictable and variable clinical course. We present the case of a 56-year-old woman who underwent total thyroidectomy for papillary thyroid carcinoma in 2012 and who developed a cervical mass at the left laterocervical level during follow-up, raising the diagnosis of tumor recurrence. Computed tomography of the neck showed solid formations with heterogeneous contrast uptake in the right lateral region of the neck. At the level of the thoracic operculum, a second 26-mm formation was observed that medially contacted the left lateral wall of the trachea. Lateral lymphadenectomy was performed, which was incomplete. Histology showed findings consistent with desmoid-type fibromatosis. DF are slowly proliferating, non-metastatic tumors with a highly invasive capacity that are usually present in familial adenomatous polyposis (FAP)-Gardner syndrome. Our case had a history of massive colonic polyposis and first-degree relatives of colorectal cancer.
La fibromatosis de tipo desmoide (FD) es una rara proliferación fibroblástica monoclonal caracterizada por un curso clínico impredecible y variable. Presentamos el caso de una mujer de 56 años intervenida de tiroidectomía total por carcinoma papilar de tiroides en 2012 y que durante el seguimiento desarrolla una masa cervical a nivel laterocervical izquierdo, planteando el diagnóstico de recidiva tumoral. La tomografía computarizada de cuello demostró formaciones sólidas con captación heterogénea de contraste en la región lateral derecha del cuello. A nivel del opérculo torácico se observó una segunda formación de 26 mm que contactaba medialmente con la pared lateral izquierda de la tráquea. Se realizó una linfadenectomía lateral, que resultó incompleta. La histología mostró hallazgos compatibles con FD. La FD son tumores de proliferación lenta, no metastásicos y con una capacidad altamente invasiva que suelen estar presentes en la poliposis adenomatosa familiar (PAF)-síndrome de Gardner. Nuestro caso tenía antecedentes de poliposis colónica masiva y familiares de primer grado de cáncer colorrectal.

Desmoid tumors are rare soft-tissue tumors that exhibit locoregional aggressiveness and a high local recurrence rate following initial resection. No fixed recommendations have been established with regard to the timing and method of treatment for desmoid tumors that enlarge during pregnancy. Desmoid tumors tend to enlarge during pregnancy, and most do not regress spontaneously postpartum. Thus, surgery may be required even during pregnancy. We report a case of an abdominal wall desmoid tumor that grew to 90 mm during pregnancy and was resected at 17 weeks of gestation. Marginal resection was performed, and the surgical margin was microscopically positive. The postoperative course and the pregnancy were uneventful, and no recurrence was observed at the 15-month follow-up visit.

Desmoid tumors (DT) are rare, locally aggressive, fibroblastic soft-tissue tumors that are characterized by infiltrative growth and can affect organs and adjacent structures, resulting in substantial clinical burden impacting patients\' health-related quality of life. Searches of PubMed, Embase, Cochrane, and key conferences were conducted in November 2021 and updated periodically through March 2023 to identify articles describing the burden of DT. Of 651 publications identified, 96 relevant ones were retained. Diagnosis of DT is challenging because of its morphologic heterogeneity and variable clinical presentation. Patients visit multiple healthcare providers, often facing delays in correct diagnosis. The low incidence of DT (estimated 3-5 cases per million person-years) limits disease awareness. Patients with DT experience a high symptom burden: up to 63% of patients experience chronic pain, which leads to sleep disturbance (73% of cases), irritability (46% of cases), and anxiety/depression (15% of cases). Frequently mentioned symptoms are pain, limited function and mobility, fatigue, muscle weakness, and swelling around the tumor. Overall, quality of life in patients with DT is lower than in healthy controls. There is no treatment approved by the US Food and Drug Administration for DT; however, treatment guidelines reference available options, such as active surveillance, surgery, systemic therapy, and locoregional therapy. Choice of active treatment may depend on tumor location, symptoms, and risk of morbidity. The substantial burden of illness of DT is related to difficulties in timely and accurate diagnosis, high symptom burden (pain and functional limitations), and decreased quality of life. There is a high unmet need for treatments that specifically target DT and improve quality of life.

UNASSIGNED: Desmoid tumors (DT) are soft-tissue tumors that infiltrate into surrounding structures with ill-defined margins. Although surgery is a potential treatment option, complete excision with negative margins is not often possible, the postsurgery recurrence rate is high, and surgery can result in disfigurement and/or loss of function.
UNASSIGNED: We conducted a literature review to assess the burden of surgery in patients with DT, focusing on recurrence rates and functional deficits resulting from surgeries. Since economic data related to DT surgery is lacking, reviews of surgery costs in soft-tissue sarcomas and of general costs of amputations were conducted. Risk factors for DT recurrence after surgery are young age (<30 years), tumor location (extremities), tumor size (>5 cm in greatest diameter), positive resection margins, and history of trauma in the area of the primary tumor. Tumors in the extremities have the highest risk of recurrence (30%-90%). Lower rates of recurrences have been reported when radiotherapy was used after surgery (14%-38%).
UNASSIGNED: Although effective in specific cases, surgery may be associated with poor long-term functional outcomes and higher economic costs. Therefore, it is imperative to find alternative treatments with acceptable efficacy and safety profiles that do not adversely affect functional aspects in patients.

Sorafenib is currently one of the recommended treatments for symptomatic patients with desmoid-type fibromatosis (DTF). In this study, we aim to assess the clinical efficacy and tolerability of sorafenib in DTF patients.
Patients aged>18 years with a histological diagnosis of DTF and who have received sorafenib were enroled in this prospective observational study. Demographic data, clinical profile, the initial dose of sorafenib, treatment-related toxicities, dose modifications, and responses were recorded. The primary objective was to assess the objective response rate (ORR). The secondary objectives were to evaluate progression-free survival (PFS), tolerability, and adverse effects of sorafenib. Response assessment was based on response evaluation criteria in solid tumours 1.1 criteria. Adverse effects were graded according to National Cancer Institute Common Terminology Criteria for Adverse Events version 5.0 criteria. Time to event was calculated by Kaplan-Meier analysis, and survival was compared by log-rank test. Univariate and multivariable cox regression analysis were used to find independent predictors of relapse.
A total of 104 patients were enroled in the study. The median age of the study population was 32 (range, 18-81) years, and 66.35% of patients were females. On response assessment, ORR was 46.1% and stable disease was observed in 31.7% patients. ORR was higher in the appendicular site (51.7%) compared to the abdominal site (27.2%). PFS at 1 and 2 years was 86.6% (79.6-92.7%) and 73.7% (62.4-82.8%), respectively. Two-thirds (66.6%) of patients had already received some form of treatment. At the time of analysis, 70 (67.3%) patients were continuing sorafenib. Only 4.8% stopped sorafenib due to progression, 10.5% due to intolerable adverse effects, and 17.3% due to other reasons. The common treatment-related toxicities were hand-foot skin reaction (HFSR) (89.4%), fatigue (79.8%), alopecia (70.1%), and diarrhoea (48.0%). In the patients with a starting dose of ≥400 mg (48.0% of patients), discontinuation was necessitated in 12% of patients, and further dose reduction was required in 58%, while only about 13% required dose reduction or discontinuation at a starting dose of 200 mg (51.9% of patients). Responses were not compromised due to lower starting doses.
Sorafenib has good activity in DTF, but it is associated with significant toxicity. The adverse effect profile is distinct in Indian patients with higher HFSR and alopecia. Due to the high rate of dose reduction/discontinuation with a starting dose of 400 mg, a starting dose of 200 mg may be recommended in Indian patients.

Desmoid tumors (DTs) account for 3% of all soft tissue tumors. They are benign and have no malignant potential with a favorable prognosis, and predominantly occur in young women. The pathogenesis and clinical behavior of DTs are still uncertain. In addition, most cases of DTs were associated with abdominal trauma (including surgery), while genitourinary involvement seemed to be quite rare. Up to now, there has been only one DT case with urinary bladder involvement reported in the literature. We, Hereby, report a 67-year-old male patient with left lower abdominal pain while micturition. Computed tomography (CT) showed a mass located at the lower aspect of the left rectus muscle with an extension attached to the urinary bladder. Based on the pathological findings of tumor specimen, a diagnosis of benign desmoid tumor (DT) of the abdominal wall was made. Laparotomy with wide local excision was carried out. The patient had a smooth postoperative recovery and was discharged after 10 days. Introduction:Historically, MacFarland first described these tumors in 1832. Etymologically, the word desmoid was first coined by Muller in 1838 and is derived from the Greek word desmos, which means band or tendon-like. Stout first used the term fibromatosis in 1961[1,2,3]. Desmoid tumors (DTs) are a kind of rare neoplasm, which represents 3% of all soft tissue tumors and 0.03% of all neoplasms with an incidence of 5 to 6 per million of the population per annum[4,5,6]. DTs predominantly affect young females with a median age of 30 to 40 years old and is more than twice in female than male patients. However, there is no gender preference in older patients [7,8]. Furthermore, the symptoms of DTs are not typical in general. Symptoms can occasionally occur due to the size and location of the tumor but usually are nonspecific. Because of its rarity and unusual behavior, DT is often associated with diagnostic and therapeutic challenges. Computed tomography (CT) and magnetic resonance imaging (MRI) is beneficial for the diagnosis of this tumor but pathological diagnosis is mandatory. Surgical resection is now considered as the most efficient treatment option for patients with DT, because it offers a good chance of long-term survival. Our case is of unusual presentation and finding of abdominal wall desmoid tumor with an extension to urinary bladder in a male patient who is 67 years old. Keywords: desmoid tumor, fibromatosis, spindle cell tumor, urinary bladder.

Desmoid tumors occur throughout the body, presenting as aggressive, locally invasive lesions that can impede quality of life. Many controversies remain regarding the optimal surgical treatment of desmoid. This article presents a systematic review and meta-analysis on surgical management, focusing on risk of recurrence and the utility of reconstruction within this unique patient population.
A systematic review was conducted to search for articles. The clinical course of patients diagnosed with desmoid tumors and treated by our institution\'s multidisciplinary team was retrospectively reviewed over a 13-year period. Meta-analysis study findings were compared with our cohort.
From the systematic review, 10 studies with level of evidence III were found, which resulted in 981 patients. Twenty patients from our institution met the inclusion criteria for our study. In both our study cohort and the pooled results, recurrence was significantly higher in patients with positive microscopic margin after resection. In our study cohort, patients with recurrence had higher rates of positive margins compared with those without recurrence (83.3% vs 7.1%, P = 0.004), whereas the pooled study showed a difference of margin positivity of 50% vs 40% ( P = 0.01). No patients who underwent reconstruction in our study cohort had a recurrence during the study period.
In both our cohort and pooled results, recurrence was significantly higher in patients with positive margins after initial resection. Reconstruction was not found to be a risk factor for recurrence. Reconstruction following desmoid tumor resection should be considered a viable option if a large and aggressive resection is required to obtain negative margins.

OBJECTIVE: Desmoid fibromatosis (DF) is a rare, locally aggressive soft tissue tumor. Computed tomography (CT) and magnetic resonance imaging (MRI) play a critical role in the diagnosis of DF and in developing treatment plans. Currently, observation is the primary therapeutic option for a biopsy-confirmed DF. Here, we present a case of a DF that was misdiagnosed as uterine fibroid before surgery.
METHODS: A 36-year-old woman presented with urinary frequency and a palpable lower abdominal mass, which was suspected as uterine fibroid based on sonography and CT. During surgery, an abdominal wall mass was found to be densely adherent to the bladder. Permanent pathology revealed that the tumor was desmoid-type fibromatosis.
CONCLUSIONS: Desmoid tumors often occur in the abdomen, abdominal wall, extremities, head, and neck. Abdominal wall DF involving the rectus abdominis muscles is most commonly observed. Conversely, desmoid tumors involving the bladder are less described. The review of similar cases reported since 1985 showed that partial cystectomy was primarily performed for complete resection.