Desmoid Research Articles

Trauma and sporadic desmoid tumor development: An approach toward real incidence and aspects of causality.

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. We analyzed a prospectively kept database of 381 females and 171 males, median age at disease onset 37.7years (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. In 164 patients (32.7%), a trauma anteceding DT could be verified with a median lag time of 22.9months (SD, 7.7months; range, 9-44months). 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. 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.

Maxillary Fibromatosis: A Rare Clinical Report and Its Review of Literature.

Fibromatosis is a rare locally aggressive benign tumour which arises from the musculoaponeurotic structures throughout the body. In the oral and maxillofacial region, It has been described under a variety of synonyms, including 'extra articular desmoids', 'desmoids tumours', 'grade-1 fibrosarcomas','non metastasizing fibrosarcoma'and 'aggressive fibromatosis'. The pecularity of this entity in paranasal sinuses is that it is rare in this location and are locally aggressive with higher rates of recurrence in a relatively restricted area.The purpose of this study is to present a rare case report and reviewing the literature of this entity.

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.

Desmoid tumor (DT) is a fibroblastic proliferation arising in soft tissue characterized by localized infiltrative growth with an inability to metastasize but with a tendency to recurrence. Nuchal-type fibromas are benign soft tissue lesions that are usually developed in the posterior neck. The development of these neoplasms can be associated with a hereditary cancer predisposition syndrome, mainly familial adenomatous polyposis (FAP) syndrome caused by APC germline mutations. Gardner syndrome is a variant of FAP characterized by the presence of extracolonic manifestations including soft tissue tumors as DTs and nuchal-type fibromas. However, the development of these tumors could be associated with germline alterations in other genes related to colorectal cancer development. The objective of this study was to analyze germline variants in APC, MUTYH, POLD1 and POLE genes in five pediatric patients diagnosed with DTs or nuchal-type fibromas. We identified two pathogenic variants in the APC gene in two different patients diagnosed with nuchal-type fibroma and DTs and two variants of uncertain significance in POLD1 in two patients diagnosed with nuchal-type fibroma. Two patients had family history of colorectal cancer, however, only one of them showed an APC germline pathogenic variant. The analysis of germline variants and genetic counseling is essential for pediatric patients diagnosed with DTs or nuchal-type fibromas and their relatives.

Aggressive fibromatosis misdiagnosed as jejunal diverticulum inflammation.

Aggressive fibromatosis misdiagnosed as jejunal diverticulum inflammation.

773 Desmoid Tumor in the Cecum in a Pregnant Woman

Abstract Desmoid tumors (DT) are benign growths that invade the mesenchymal tissue locally without metastasizing. Also known as aggressive fibromatosis, these tumors tend to affect the abdomen and limbs. The etiology is still unclear, but DT happens more frequently in women during or after pregnancy. Histologically, they consist of spindle cells that are damaging locally. The gold standard treatment is complete resection, however even with this DT has a high risk of local recurrence. Due to rarity and lack of specificity on imaging, spindle cell tumors can be misdiagnosed, especially with abdominal wall endometriosis. A 36-year-old woman of Bangladeshi origin, gravida 3 and para 2, was booked into the antenatal clinic at 8 weeks gestation. This patient was thought to have a fibrothecoma, with plans to resect it during her elective cesarian. The lump was seen to be on the cecum instead and was removed. Immunohistochemical analysis of the resection pointed towards a desmoid tumor. Apparent in this case was the delay in identifying the correct diagnosis for this patient, which has profound impacts on the management. This tumor was removed in a right hemicolectomy, delayed till after the cesarian. The delay was necessary as there was no consent for a hemicolectomy and the bowel was unprepared. Interestingly, the patient did present with pregnancy complications, including an unstable lie, which questions whether there is a correlation between DT and pregnancy. Due to the rarity of this disease, there is a high need for further research into investigations and appropriate management.

567 Chest Wall Resection for Desmoid Fibromatosis with Neo Rib Reconstruction Using 3D Printing: A Case Report

Abstract Background Desmoid fibromatosis, also known as desmoid tumor, is a locally aggressive tumour that develops from fascia and musculoaponeurotic tissue. Chest wall desmoid fibromatoses represent 10-20% of all fibromatoses. Surgery is a successful treatment option for desmoid fibromatosis; however it can be difficult depending on the tumour's location or local spread, and post-resected chest wall reconstruction is becoming a new challenge for surgeons in cases involving ribs. Method we present a rare case of chest wall desmoid fibromatosis involving right sided 9th rib in a 35-year-old male, which was discovered due to a thoracic wall mass. The patient underwent wide tumour surgical excision of the 9th and part of the 10th rib. To reconstruct a neo rib 3D printing of the rib lesion with 1:1 ratio was done in order to obtain a good orientation. Two cannulated cancellous screws were fixed between the two ends of the resected ribs. A simple sternal wire was anchored between the two screws and bone cement was moulded similar to the rib architecture over the sternal wire. Results Post operatively margins were free and lung expansion was satisfactory. 5 year post operative follow up showed no local recurrence. Conclusions This case report sheds light on rare tumour of the rib and provides a comprehensive approach towards its surgical management which includes reconstruction of a neo rib with no major complications. Implications This technique has helped in reconstruction of the chest wall with very limited and easily available resources.

Unusual Presentation of an Uncommon Malignancy: A 74-Year-Old Woman with Aggressive Fibromatosis of the Large Intestine Presenting as a Liver Mass and the Therapeutic Management.

BACKGROUND Desmoid tumors are a fibroblastic proliferation of soft tissues, with an extreme inclination for local dissemination and recurrence. Surgical excision is the usual treatment choice, with data regarding pharmaceutical treatment being scarce. CASE REPORT A 74-year-old female patient was admitted to "Laikon" General Hospital of Athens, Greece presenting with acute kidney injury secondary to diarrhea. The ultrasound, CT, and abdominal MRI performed showed a 12×6×10 cm tumorous liver lesion. Biopsy of the lesion revealed loosely organized, mesenchymal tissue with spindle cells, and myxoid stroma. Immunochemistry was positive for SMA and b-catenin. Right hemicolectomy was performed with tumor-free surgical margins (R0 resection) and tamoxifen was initiated. Six months after the last MRI (3 months after the use of tamoxifen), a follow-up MRI was performed. The tumor had increased to 14.2×11×12.3 cm, and at the next follow-up it had grown to 20.3×19 cm maximal dimensions; no new metastases were found. The patient received sorafenib and pazopanib. Our patient had PFS with sorafenib for more than 2 years and remained in a good performance status (ECOG 1). For Pazopanid, the median PFS for this treatment option was 6.5 months. CONCLUSIONS The results were good and show a promising method for the treatment of this rare but severe malignancy.

Iodine-125 brachytherapy for a desmoid tumor in the abdomen-thorax: A retrospective study

To investigate the safety and efficacy of iodine-125 seed implantation in the treatment of abdomen-thorax desmoid tumors (DTs). Data from 14 DT patients who received brachytherapy with iodine-125 seeds were retrospectively collected from 2014 to 2020. The operation was completed using CT guidance and the treatment plan system (TPS). The number of lesions and the target dosimetry parameters were recorded. After brachytherapy, the lesions were evaluated using response evaluation criteria in solid tumors (RECIST). Fourteen patients with 18 lesions were enrolled in this study; eleven lesions were in the thorax, seven were in the abdomen, and the lesion gross tumor volume (GTV) was 82.10 cc (interquartile range [IQR]: 40.37, 203.42 cc). The median number of seeds was 88 (IQR: 35, 158), and the median prescription dose was 120 Gy (IQR: 115, 120 Gy). The D90 was 123 ± 16.7 Gy, the V90 was 97% (IQR: 95.00, 97.25%), and the V200 was 27% (IQR: 14.50, 33.00%). The median follow-up time for each lesion was 34 (IQR: 23, 67) months, and the local response rate was 100%. Following brachytherapy, the overall survival was 52.3 ± 30.72 months. One year after brachytherapy, one patient experienced persistent worsening of a brachial plexus injury; another received a ureteral stent. No brachytherapy-related complications were observed in the remaining patients. Iodine-125 brachytherapy is a novel treatment option for DT of the abdomen and thorax. Although it is a safe and effective treatment, the radiation dose of iodine-125 brachytherapy for DT-embedded organs at risk must be investigated further.

Surgical Decision-Making in Familial Adenomatous Polyposis.

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder affecting patients with germline mutations of the adenomatous polyposis coli (APC) tumor suppressor gene. The surgical treatment of colorectal disease in FAP, which has the goal of colorectal cancer prevention, varies based on both patient and disease factors but can include the following: total colectomy with ileorectal anastomosis, proctocolectomy with stapled or hand-sewn ileal pouch-anal anastomosis, or total proctocolectomy with end ileostomy. The operative options and extent of resection, as well as the use of endoscopy and chemoprevention for the management of polyposis, will be discussed in detail in this article. In addition, commonly debated management decisions related to the treatment of patients with FAP, including the timing of prophylactic colorectal resections for patients with FAP and management of the polyp burden in the rectum, will be discussed. Finally, genotype considerations and the impact of desmoid disease on operative decisions in the setting of FAP will also be reviewed.

Novel insights into biomarkers of progression in Desmoid tumor.

Desmoid tumor (DT) is a rare neoplasm characterized by the proliferation of myofibroblastic cells that infiltrates and invades adjacent tissues. Due to its locally aggressive and recurrent nature, DT often causes local symptoms and can be challenging to manage clinically. Therefore, identifying biomarkers that can predict the progression of DT and guide treatment decisions is critical. This review summarizes several biomarkers that have been implicated in active surveillance (AS) and the prediction of postoperative recurrence and attempts to elucidate their underlying mechanisms. Some of these novel markers could provide prognostic value for clinicians, and ultimately help facilitate optimal and accurate therapeutic decisions for DT.

Breast Sarcomas, Phyllodes Tumors, and Desmoid Tumors: Turning the Magnifying Glass on Rare and Aggressive Entities.

Breast sarcomas (BSs), phyllodes tumors (PTs), and desmoid tumors (DTs) are rare entities that arise from connective tissue. BSs can be classified as either primary or secondary, whether they develop de novo or after radiation exposure or lymphedema. PIK3CA seems to play an important common role in different BS. Malignant PTs show similar behavior to BSs, while DTs are locally aggressive but rarely metastasize. BSs usually present as unilateral, painless, rapidly growing masses with rare nodal involvement. The diagnosis should be based on magnetic resonance imaging and a core needle biopsy. Staging should comprise a chest computed tomography (CT) scan (except for benign PT and DT), while abdominal and pelvic CT scans and bone scans should be added in certain subtypes. The mainstay of treatment for localized BS is surgery, with margin goals that vary according to subtype. Radiotherapy and chemotherapy can be used as neoadjuvant or adjuvant approaches, but their use in these settings is not standard. Advanced BS should be treated with systemic therapy, consistent with recommendations for advanced soft tissue sarcomas of other topographies. Given the rarity and heterogeneity of these entities, multidisciplinary and multi-institutional collaboration and treatment at reference centers are critical.

Rare Presentation of a Large Desmoid Tumor after Surgery for Meckel’s Diverticulum

The patient is a 54-year-old male with no personal history of interest and only one previous surgery for ileal resection and mechanical anastomosis 3 years earlier due to a complicated Meckel’s diverticulum. Presently, he came to the Emergency Department with abdominal discomfort and distension over the past 3 months. Physical examination detected a mass in the right flank, and CT revealed a large exophytic mass measuring about 18_15 cm originating at the terminal ileum (Figure 1). We conducted en bloc excision of the tumor as well as 30 cm of the terminal ileum that were encompassed by it (Figure 2), followed by appendectomy and ileocolic anastomosis. The pathology report described a 17-cm desmoid fibromatosis with free resection margins and beta-catenin positivity.

THE NEED FOR MULTIPLE SURGERIES FOR FREQUENT DESMOID TUMOR RECURRENCE

Desmoid tumors are very rare mesenchymal neoplasms with an estimated incidence of 3 per 100 soft tissue tumor cases. They are locally invasive, aggressive and cause significant complications. The treatment modalities of desmoids include surgery, radiotherapy, chemotherapy, hormonal therapy. Currently there is no gold standard and neither therapy is effective for high recurrence (25‑77%) desmoid tumors. Desmoid tumors also have the capacity for self-limitation and, therefore, no treatment other than observation is possible expecting spontaneous regression. Treatment options for desmoid tumors are limited and as­sessment of treatment effects remains an unresolved issue due to no standard validated response criteria available.

Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis.

Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome marked by extensive colorectal polyposis and a high risk of colorectal cancer (CRC). Having access to screening and enrollment programs can improve survival for patients with FAP by enabling them to undergo surgery before the development of colorectal cancer. Provided that there are a variety of surgical options available to treat colorectal polyps in patients with adenomatous polyposis, the appropriate surgical option for each patient should be considered. The gold-standard treatment to reduce this risk is prophylactic colectomy, typically by the age of 40. However, colectomy is linked to morbidity and constitutes an ineffective way at preventing extra-colonic disease manifestations, such as desmoid disease, thyroid malignancy, duodenal polyposis, and cancer. Moreover, extensive studies have been conducted into the use of chemopreventive agents to prevent disease progression and delay the necessity for a colectomy as well as the onset of extracolonic disease. The ideal chemoprevention agent should demonstrate a biologically plausible mechanism of action and provide safety, easy tolerance over an extended period of time and a lasting and clinically meaningful effect. Although many pharmaceutical and non-pharmaceutical products have been tested through the years, there has not yet been a chemoprevention agent that meets these criteria. Thus, it is necessary to develop new FAP agents that target novel pathways, such as the mTOR pathway. The aim of this article is to review the prior literature on FAP in order to concentrate the current and future perspectives of diagnosis and treatment. In conclusion, we will provide an update on the diagnostic and therapeutic options, surgical or pharmaceutical, while focusing on the potential treatment strategies that could further reduce the risk of CRC.

Surgery for primary malignant tumors of the abdominal wall: experiences of three African surgical oncology units and review of the literature

Background and objectivesTumors of the abdominal wall are uncommon but diverse. The surgical challenge is double. The tumor must be completely removed and the abdominal wall repaired. Our aim was to describe the indications, techniques, and results of surgery on these tumors in an African context.MethodsRetrospective, multicentric and descriptive study conducted in three West African surgical oncology units. We included all abdominal wall tumors followed up between January 2010 and October 2022. Histological type, size, surgical procedure, and method of abdominal wall repair were considered. Survival was calculated using the Kaplan–Meier method and comparisons of proportions were made using the Student t test.ResultsWe registered 62 tumors of the abdominal wall and we operated on 41 (66.1%). The mean size of the tumors was 14.3 ± 26 cm. Dermatofibrosarcoma and desmoid tumor were present in 33 and 3 cases respectively. In 31.7% of cases in addition to the tumour, the resections carried away the muscular aponeurotic plane. Parietal resections required the use of a two-sided prosthesis in 6 cases. In 13 cases, we used skin flaps. The resections margins were invaded in 5 cases and revision surgery was performed in all of them. Incisional hernia was noticed in 2 cases. The tumor recurrence rate was 12.2% with an average time of 13 months until occurrence. Overall survival at 3 years was 80%.ConclusionsSurgery is the mainstay of treatment for abdominal wall tumors. It must combine tumor resections and parietal repair. Cancer surgeons need to be trained in abdominal wall repair.

Management of Desmoid Disease in Familial Adenomatous Polyposis.

Desmoid disease, though technically a benign condition, is nevertheless a leading cause of morbidity and mortality in patients with familial adenomatous polyposis (FAP). Desmoid disease impacts approximately 30% of FAP patients, with several known risk factors. It runs the gamut in terms of severity-ranging from small, slow-growing asymptomatic lesions to large, focally destructive, life-threatening masses. Desmoids usually occur following surgery, and several patient risk factors have been established, including female sex, family history of desmoid disease, 3' APC mutation, and extraintestinal manifestations of FAP. Desmoid disease-directed therapy is individualized and impacted by desmoid stage, severity, postsurgical anatomy, and consequences of disease. Medical therapy consists of options in multiple classes of drugs: nonsteroidal anti-inflammatory drugs, hormonal therapy, tyrosine kinase inhibitors, and cytotoxic agents. Surgical excision is sometimes an option, but can be limited by common location of disease at the root of the small bowel mesentery. Palliative surgical treatments are often considered in management of desmoid disease. Intestinal transplantation for severe desmoid disease is an emerging and promising option, though long-term data on efficacy and survival is limited.

An unexpected intrabdominal discovery: a mesenteric desmoid tumor with small bowel obstruction. Case report and literature review

This case report describes a 54-year-old man who presented with abdominal discomfort, nausea, early satiety, and constipation. A CT scan revealed a large mass infiltrating the mesentery and close to bowel loops, raising suspicion of intestinal sub-occlusion. Urgent surgery was performed, resulting in a segmental jejunum resection to remove the identified mesenteric mass. Histological examination revealed a diagnosis of desmoid fibromatosis which is a rare type of soft tissue tumor with borderline malignancy that can cause bowel obstruction when it develops intra-abdominally. It is often associated with genetic predispositions and risk factors such as previous surgery and pregnancy. The case highlights the importance of considering a patient's surgical history when encountering desmoid fibromatosis to determine the most appropriate treatment approach.

Desmoid Tumors: A Comprehensive Review.

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.

Desmoid tumours (extra-abdominal), a surgeon's nightmare.

Desmoid tumours are a rare fibroblastic proliferation of monoclonal origin, arising in deep soft-tissues. Histologically, they are characterized by locally aggressive behaviour and an inability to metastasize, and clinically by a heterogeneous and unpredictable course. Desmoid tumours can occur in any anatomical site, but commonly arise in the limbs. Despite their benign nature, they can be extremely disabling and sometimes life-threatening, causing severe pain and functional limitations. Their surgical management is complex and challenging, due to uncertainties surrounding the biological and clinical behaviour, rarity, and limited available literature. Resection has been the first-line approach for patients with a desmoid tumour but, during the last few decades, a shift towards a more conservative approach has occurred, with an initial 'wait and see' policy. Many medical and regional forms of treatment are also available for the management of this condition, and others have recently emerged with promising results. However, many areas of controversy remain, and further studies and global collaboration are needed to obtain prospective and randomized data, in order to develop an appropriate shared stepwise approach.

Mesenteric fibromatosis involving intestine mimicking a gastrointestinal stromal tumor

Mesenteric fibromatosis (MF) or intra-abdominal desmoid tumour is a rare proliferative disease affecting the mesentery. MF is a locally aggressive tumour that lacks metastatic potential, but the local recurrence is common. We report a case of 33-year-old female with chief complaints of mass in abdomen which was hard on palpation arising from the pelvis and extending up to the umbilicus. Magnetic resonance imaging (MRI) suggestive of soft tissue mass and exploration was planned. Intra-operatively a mass of 16×16×8 cm with attached ileum and caecum which was excised completely and sent for histopathological examination. Histopathology was suggestive of Mesenteric fibromatosis spindle cell type. Considering the rarity of this tumour and difficulties in diagnostic and therapeutic ambit, we believe it is justified to publish this case which came to our observation.