Incidental discovery of unilateral hydronephrosis unveiling psoas major desmoid-type fibromatosis in a 24-year-old male: A case report with a 5-year follow-up.

RATIONALE: Desmoid-type fibromatosis (DTF), also known as aggressive fibromatosis, is a rare neoplasm originating from the fascial or musculoaponeurotic tissues. While benign and characterized by slow growth, it exhibits local aggressiveness and lacks specific clinical characteristics. However, in a considerable percentage of patients, it could be asymptomatic and discovered by accident during routine clinical examinations. Only a few cases of DTF arising from the psoas major muscle have been reported in the medical literature. PATIENT CONCERNS: A 24-year-old male, asymptomatic and without significant personal or family medical history, was diagnosed with grade 2 hydronephrosis by abdominal ultrasonography during a routine physical examination. This diagnosis was made 15 days after undergoing uncomplicated open-heart surgery to repair an atrial septal defect. DIAGNOSIS: Intravenous pyelogram revealed hydronephrosis with dilation of the pelvicalyceal system. Ureteroscopy ruled out any intrinsic lesions of the ureter. Contrast-enhanced computed tomography identified a 3.5 × 2 × 5.2 cm mass in the retroperitoneum, closely associated with the psoas muscle and enveloping the ureter adjacent to the iliac artery. Postoperative pathological analysis confirmed a definitive diagnosis of sporadic DTF. INTERVENTIONS: The patient underwent exploratory abdominal surgery, during which the tumor was resected without any intraoperative complications. RESULTS: After close monitoring over a 5-year follow-up period, which included periodic physical examinations, magnetic resonance imaging, and ultrasonography, no local recurrence was detected. LESSONS: Achieving an accurate preoperative diagnosis presents a challenge in cases involving retroperitoneal tumors originating from the psoas major muscle and encasing the ureter. However, the insertion of a double J stent is deemed a crucial step in the surgical process, facilitating the dissection and isolation of the ureter from the tumor while preserving kidney function.

A rare cause of small bowel obstruction caused by duodenum-derived aggressive fibromatosis with ß-catenin T41A mutation: A case analysis.

RATIONALE: Aggressive fibromatosis (AF) is a fibroblastic/myofibroblastic tumor known for its locally aggressive properties. Intra-abdominal AF primarily occurs in the small intestine mesentery, ileocolic mesocolon, omentum, retroperitoneum, and pelvis, and rarely originates from the intestinal wall. Here, we report a rare case of small bowel obstruction caused by duodenum-derived AF with ß-catenin (CTNNB1) T41A mutation. PATIENT CONCERNS: A 35-year-old male had a 4-month history of abdominal pain, nausea, and vomiting, which gradually worsened over time. DIAGNOSES: Based on the results of CT examination, histopathology and Sanger sequencing, the patient was diagnosed with small bowel obstruction caused by duodenum-derived AF. INTERVENTIONS: Due to the extensive adhesion between the tumor and surrounding tissue, it is extremely challenging to completely remove the tumor through surgical resection with negative margins in this case. In order not to damage the function of surrounding vital organs, gastrojejunostomy was performed to relieve the symptoms of small bowel obstruction. OUTCOMES: The patient experienced a successful recovery. It is important to note that this patient is still at risk of local recurrence and requires regular follow-up. LESSONS: The best treatment should be taken based on the individual patient to relieve symptoms and improve quality of life. Moreover, histopathology plays a crucial role in diagnosing and differentiating duodenum-derived AF. The detection of mutations in exon 3 of the CTNNB1 has become strong evidence for diagnosing duodenum-derived AF.

Neuromuscular choristoma-associated desmoid-type fibromatosis of the brachial plexus: Additional evidence to support a nerve-driven mechanism.

BACKGROUND: We have recently described circumferential nerve involvement of neuromuscular choristoma associated with desmoid-type fibromatosis (NMC-DTF) in cases involving the sciatic nerve, supporting a nerve-derived mechanism for the DTF. We wondered whether a similar growth pattern occurs in cases involving the brachial plexus (BP). METHODS: We reviewed all available magnetic resonance (MR) imaging in patients diagnosed at our institution with NMC or NMC-DTF of the BP. We also performed a literature search of patients with NMC or NMC-DTF of the BP. RESULTS: In our clinical records, four patients with NMC of the BP were identified, and three developed NMC-DTF. All three patients had MR imaging evidence of circumferential encasement of the BP. In the literature, we identified 15 cases of NMC of the BP, of which 12 had identified NMC-DTF. Four published cases included MR images, and only two were of sufficient quality for review. The single provided image in both cases demonstrated a similar pattern of circumferential encasement of the BP by the NMC-DTF. One additional case report was published without MR images but described circumferential involvement in the surgical findings. One unpublished case of NMC-DTF of the BP from an international radiology meeting also had this circumferential pattern pattern on MRI. CONCLUSIONS: The MRI findings of circumferential nerve involvement in patients with NMC-DTF of the BP are similar to our previously reported data in patients with NMC-DTF of the sciatic nerve, providing further imaging-based support of a nerve-driven mechanism. Clinical implications are presented based on the proposed pathogenetic mechanism.

Correlation Between the Severity of Adhesions and Desmoid Disease in Patients With Familial Adenomatous Polyposis: A Prospective Cohort Study.

BACKGROUND: Clinical experience teaches that intraperitoneal adhesions are more severe in patients with familial adenomatous polyposis than in patients without it. This impression may come from the common association of familial adenomatous polyposis with desmoid disease. OBJECTIVES: This study aimed to determine whether patients with familial adenomatous polyposis and desmoid disease develop more severe adhesions than those without desmoid disease. DESIGN: Prospectively collected data study. SETTINGS: Hereditary colorectal cancer center in a tertiary referral hospital. PATIENTS: Patients undergoing first reoperative intra-abdominal surgery for familial adenomatous polyposis; controls were those having their initial abdominal surgery. INTERVENTIONS: Surgery and adhesiolysis. MAIN OUTCOME MEASURES: Presence and type of desmoid disease; presence and severity of nondesmoid intraperitoneal adhesions. Where patients had multiple operations, only the first reoperative surgery was chosen. Desmoid disease was noted as reaction (sheet) or mass. Adhesions were graded as none, mild (<10 min for mobilization), average (10-30 min), and severe (>30 min or significant bowel damage). Patients having their first abdominal surgery for familial adenomatous polyposis were used as a control group. RESULTS: A total of 211 patients had no prior surgery; 5% had desmoids and 1% had adhesions. One hundred thirty-seven patients underwent reoperative surgery: 39% had desmoid disease ( p < 0.05 vs no prior surgery), the highest rate being in patients after IPAA (57%), and 45% had severe adhesions ( p < 0.01 vs no prior surgery), worst after Koch pouch (89%), and total proctocolectomy with ileostomy (82%). Thirty-six percent of patients without desmoid disease had severe adhesions. Desmoid reaction was associated with severe adhesions in 47% of cases and desmoid tumors in 66% of cases. LIMITATIONS: Possible limitations include the potential overlap between desmoid adhesions and nondesmoid adhesions and the potential for inaccuracy in defining the time of adhesiolyses. CONCLUSIONS: Familial adenomatous polyposis is associated with severe postoperative adhesions after reoperative abdominal surgery, especially in patients who develop desmoid disease. See Video Abstract . CORRELACIN ENTRE LA GRAVEDAD DE LAS ADHERENCIAS Y LA ENFERMEDAD DESMOIDEA EN PACIENTES CON POLIPOSIS ADENOMATOSA FAMILIAR ESTUDIO PROSPECTIVO DE COHORTES: ANTECEDENTES:La experiencia clínica demuestra que las adherencias intraperitoneales son más graves en pacientes con poliposis adenomatosa familiar que en pacientes sin enfermedad desmoidea. Esta impresión puede provenir de la asociación común de poliposis adenomatosa familiar con enfermedad desmoidea.OBJETIVOS:Ver si los pacientes con poliposis adenomatosa familiar y enfermedad desmoidea desarrollan adherencias más graves que aquellos sin enfermedad desmoidea.DISEÑO:Estudio de datos recolectados prospectivamente.AJUSTES:Centro de cáncer colorrectal hereditario en un hospital de referencia terciario.PACIENTES:Pacientes sometidos a una primera cirugía intraabdominal de caracter reoperatorio por poliposis adenomatosa familiar: los controles fueron los que se sometieron a su cirugía abdominal inicial.INTERVENCIONES:Cirugía y adhesiolisis.PRINCIPALES MEDIDAS DE RESULTADO:Presencia y tipo de enfermedad desmoidea; presencia y severidad de adherencias intraperitoneales no desmoideas. Cuando los pacientes tenían múltiples operaciones, solo se eligió la primera cirugía reoperatoria. La enfermedad desmoidea se anotó como reacción (hoja filamentosa) o masa. Las adherencias se calificaron como ninguna, leve (<10 minutos para la movilización), promedio (10 a 30 minutos) y severa (>30 minutos o daño intestinal significativo). Los pacientes sometidos a una primera cirugía abdominal por poliposis adenomatosa familiar se utilizaron como grupo de control.RESULTADOS:211 pacientes no tenían cirugía previa: 5% desmoideos y 1% adherencias. 137 pacientes se sometieron a cirugía reoperatoria: 39% tenía enfermedad desmoidea ( p < 0,05 frente aquellos sin cirugía previa), la tasa más alta se presentó en aquellos pacientes después de una anastomosis ileoanal con reservorio (57%) donde el 45% tenía adherencias graves ( p < 0,01 frente aquellos sin cirugía previa), peores resultados se observaron después de la confección de un reservorio de Koch (89%) y luego de proctocolectomía total con ileostomía (82%). El 36% de los pacientes sin enfermedad desmoidea tenían adherencias graves. La reacción desmoidea se asoció con adherencias graves en el 47% de los casos, y los tumores desmoides se asociaron con adherencias graves en el 66% de los casos.LIMITACIONES:Superposición potencial entre adherencias desmoideas y adherencias no desmoideas. Posible inexactitud en la definición del tiempo de adhesiolisis.CONCLUSIONES:La poliposis adenomatosa familiar se asocia con adherencias postoperatorias graves después de una cirugía abdominal reoperatoria, especialmente en pacientes que desarrollan enfermedad desmoidea. (Traducción-Dr. Xavier Delgadillo ).

Neuromuscular choristoma and circumferential nerve territory desmoid-type fibromatosis: imaging findings supporting a nerve-driven mechanism.

OBJECTIVE: Neuromuscular choristoma (NMC) is a rare developmental malformation of peripheral nerve that is frequently associated with the development of a desmoid-type fibromatosis (DTF). Both NMC and NMC-DTF typically contain pathogenic CTNNB1 mutations and NMC-DTF develop only within the NMC-affected nerve territory. The authors aimed to determine if there is a nerve-driven mechanism involved in the formation of NMC-DTF from the underlying NMC-affected nerve. METHODS: Retrospective review was performed for patients evaluated in the authors' institution with a diagnosis of NMC-DTF in the sciatic nerve (or lumbosacral plexus). MRI and FDG PET/CT studies were reviewed to determine the specific relationship and configuration of NMC and DTF lesions along the sciatic nerve. RESULTS: Ten patients were identified with sciatic nerve NMC and NMC-DTF involving the lumbosacral plexus, sciatic nerve, or sciatic nerve branches. All primary NMC-DTF lesions were located in the sciatic nerve territory. Eight cases of NMC-DTF demonstrated circumferential encasement of the sciatic nerve, and one abutted the sciatic nerve. One patient had a primary DTF remote from the sciatic nerve, but subsequently developed multifocal DTF within the NMC nerve territory, including 2 satellite DTFs that circumferentially encased the parent nerve. Five patients had a total of 8 satellite DTFs, 4 of which abutted the parent nerve and 3 that circumferentially involved the parent nerve. CONCLUSIONS: Based on clinical and radiological data, a novel mechanism of NMC-DTF development from soft tissues innervated by NMC-affected nerve segments is proposed, reflecting their shared molecular genetic alteration. The authors believe the DTF develops outward from the NMC in a radial fashion or it arises in the NMC and wraps around it as it grows. In either scenario, NMC-DTF develops directly from the nerve, likely arising from (myo)fibroblasts within the stromal microenvironment of the NMC and grows outward into the surrounding soft tissues. Clinical implications for patient diagnosis and treatment are presented based on the proposed pathogenetic mechanism.

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

PURPOSE: To investigate the safety and efficacy of iodine-125 seed implantation in the treatment of abdomen-thorax desmoid tumors (DTs). METHODS AND MATERIALS: 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). RESULTS: 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. CONCLUSIONS: 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.

Pain in desmoid-type fibromatosis: Prevalence, determinants and prognosis value.

The aim of this study is to evaluate the prevalence, determinants and prognostic value of pain at diagnosis in patients with desmoid-type fibromatosis (DF). We selected patients from the ALTITUDES cohort (NCT02867033), managed by surgery, active surveillance or systemic treatments, with pain assessment at diagnosis. Patients were invited to fill QLQ-C30 questionnaire and Hospital Anxiety Depression Scale. Determinants were identified using logistic models. Prognostic value on event-free survival (EFS) was evaluated using the Cox model. Overall, 382 patients were included in the current study (median age: 40.2 years; 117 men). The prevalence of pain was 36%, without significant difference according to first-line treatment (P = .18). In the multivariate analysis, pain was significantly associated with tumor size >50 mm (P = .013) and tumor site (P < .001); pain was more frequent in the neck and shoulder locations (odds ratio: 3.05 [1.27-7.29]). Pain at baseline was significantly associated with poor quality of life (P < .001), depression (P = .02), lower performance status (P = .03) and functional impairment (P = .001); we also observed a nonsignificant association with anxiety (P = .10). In the univariate analysis, baseline pain was associated with poor EFS; the 3-year EFS was 54% in patients with pain compared to 72% in those without pain. After adjustment for sex, age, size and line of treatment, pain was still associated with poor EFS (hazard ratio: 1.82 [1.23-2.68], P = .003). One third of recently diagnosed patients with DF experienced pain, especially those with larger tumors and neck/shoulder locations. Pain was associated with unfavorable EFS after adjustment for the confounders.

Intra-abdominal desmoid tumors in familial adenomatous polyposis: How much do clinical and surgical variables interfere with their development?

OBJECTIVE: Familial Adenomatous Polyposis is a complex hereditary disease that exposes the carrier to a great risk of Colorectal Cancer (CRC). After prophylactic surgery, intra-abdominal desmoid tumors are known to be one the most important cause of death. Therefore, recognition of increased-risk patients and modification of operative strategy may be crucial. AIM: The objective of this study was to estimate the desmoid tumor risk in relation to various surgical and clinical variables. METHODS: Patients who had undergone polyposis since 1958 were included in the study. After exclusion criteria were met, those who had developed desmoid tumors were selected to undergo further evaluation. RESULTS: The study revealed that the risk of developing desmoid tumors was associated with various factors such as sex ratio, colectomy, and reoperations. On the other hand, the type of surgery, family history, and surgical approach did not affect the risk of developing desmoid tumors. The data collected from 146 polyposis patients revealed that 16% had desmoid polyps. The sex ratio was 7:1, and the median age at colectomy was 28.6 years. Family history, multiple abdominal operations, and reoperations were some of the characteristics that were common in desmoid patients. CONCLUSION: Recognition of clinical (female sex) and surgical (timing of surgery and previous reoperations) data as unfavorable variables associated with greater risk may be useful during the decision-making process.

Large Intra-Abdominal Desmoid Tumor in a Deployed Soldier Initially Presented With Chronic Diarrhea.

Diarrhea is a common condition seen among soldiers in both garrison and deployed environments. Although the vast majority of soldiers with diarrhea will recover uneventfully with supportive care, clinicians should also maintain suspicion for less common causes and perform a thorough physical exam. We report the case of a young, healthy soldier with chronic diarrhea and progressively worsening abdominal distention that began during his deployment to Honduras who was subsequently found to have a large intra-abdominal desmoid tumor. Desmoid tumor is a rare and benign neoplasm that typically appears on the extremity, abdominal wall, intra-abdominal space, and occasionally in the chest wall. This tumor may be associated with abdominal distension and gastrointestinal complaints. A large tumor can compress organs, causing local tissue damage and, in rare cases, death.

Large Intrathoracic Desmoid Tumor and Re-Expansion Pulmonary Edema: Case Report and Review of the Literature.

Re-expansion pulmonary edema is a potentially life-threatening situation following thoracic surgery of a compromised lung. We report the case of a 24-year-old female scheduled for a resection of a large intrathoracic desmoid tumor that presented with re-expansion pulmonary edema at the conclusion of her surgery and discuss the clinical presentation, mechanism and predictors of this entity and review similar cases reported in the literature.

Unusual and rare cause of abdominal pain: abdominal desmoid fibromatosis masquerading as a postoperative haematoma.

Desmoid fibromatosis is a rare connective tissue malignancy. It can occur in a variety of locations, including the abdominal wall, extremities and abdominal cavity. There has been an association with development in a prior surgical scar. Common symptoms can vary depending on the location and can include being painless to having pain at the site, functional impairment and bowel obstruction from intra-abdominal masses. In the following report, we discuss a case in which a patient's abdominal pain was attributed to a postoperative haematoma based on CT radiographic features; however, further work-up and biopsy yielded desmoid fibromatosis, a rare locally aggressive malignancy.

Desmoid tumor of Meckel's diverticulum presenting as intestinal obstruction: A rare case report with literature review.

Meckel's diverticulum (MD) is among the many known congenital malformations of intestine. It is seen in approximately 2% of the population. Desmoid tumors are unusual. They are unique, well-differentiated, and fast-growing musculoaponeurotic fibromatosis tumors, contemplated as Grade 1 fibro sarcoma. They offer exclusive management challenges to surgeons. The most common presentation of desmoid tumors is of painless masses with sluggish growth. Rarely, they may present as intestinal obstruction leading to surgical emergency. We present the only case in history till date along with review of the relevant literature of a 65-year-old gentleman who presented to us with features of intestinal obstruction who successfully underwent elective segmental resection of ileum containing MD with its desmoid tumor. A multimodality approach is needed to tackle such kind of diseases with a team comprising oncosurgeons, oncophysicians, and radiation oncologist to design a standard treatment protocol.

Approach to screening for Familial Adenomatous Polyposis (FAP) in a cohort of 226 patients with Desmoid-type Fibromatosis (DF): experience of a specialist center in the UK.

INTRODUCTION: Desmoid-type fibromatosis (DF) are locally infiltrative, non-metastasizing tumours associated with significant morbidity and mortality if located intra-abdominally, retroperitoneally or in head and neck localisation. They are mostly sporadic, due to somatic CTNNB1 mutations. Alternatively, they can be associated with germline pathogenic variants in APC causing Familial Adenomatous Polyposis (FAP). Germline APC variants and somatic CTNNB1 mutations are mutually exclusive. AIMS AND METHODS: We conducted a retrospective descriptive analysis of patients with DF seen at the Royal Marsden NHS Foundation Trust Sarcoma Unit in London. We aimed to describe the methods of screening for FAP in patients with DF from a specialist unit. Patients diagnosed between 1992 and 2020 were selected from the prospectively maintained Sarcoma Unit database. RESULTS: 226 patients were identified and 67% (n = 152) were female. Median age at diagnosis was 37.5 (range 2-81) years. Tumour localisation was limbs/pelvis in 30.9% (N = 70), intra-abdominal 16.8% (N = 38), abdominal wall 23.5% (N = 53), thorax 18.6% (N = 42), head and neck 3.1% (N = 7) and vertebral/paravertebral 7.1% (N = 16). Colonoscopy was requested in 65 patients (28.8% of all cases) and was completed in forty-six (20.4%). Molecular testing of CTNNB1 testing was requested in 35 cases (15.5%). APC germline test was requested in 12 cases. Four patients in our cohort had an FAP-associated DF. CONCLUSIONS: CTNNB1 ± APC testing and colonoscopy are useful tools for the screening of patients with DF. CTNNB1 molecular testing should be performed in all cases of newly diagnosed DF. Negative CTNNB1 results, alongside clinical assessment, should prompt APC testing and/or colonoscopy.

Familial adenomatous polyposis associated with desmoid tumors presenting with abdominal abscess: A case report and literature review.

RATIONALE: Familial adenomatous polyposis (FAP) associated with desmoids tumors (DTs) complicated by abscess formation is rare. The management is not easy and the choice of the best treatment may be controversial. PATIENT CONCERNS: A 33-year-old man was admitted to our hospital for abdominal pain, fever, chills, nausea, and vomiting. He had a family history of FAP, and history of abdominal surgery. DIAGNOSES: An abdominal enhanced chest computed tomography (CT) scan revealed a soft tissue mass in the abdominal wall and an irregular mesenteric soft tissue mass with internal fistula and intra-abdominal abscess. A CT-guided biopsy of the abdominal wall mass revealed DTs. INTERVENTIONS: The patient was given oral antibiotics for 6 months, and ultimately underwent surgery. OUTCOMES: The patient had no evidence of recurrence on follow-up at 10 months. LESSONS: This case indicates that for patients with FAP who have a history of abdominal surgery and a progressively enlarging mass and abscess in the abdomen, it is necessary to consider the possibility of DTs. FAP-related DTs are rarely complicated by abscess formation. Antibiotic therapy plus surgical resection of the tumor may be effective and make good prognosis.

Successful treatment with radiation therapy for desmoid-type fibromatosis with unilateral hydronephrosis: a case report.

BACKGROUND: Desmoid-type fibromatosis is a rare disease that can result in hydronephrosis. Hydronephrosis associated with desmoid-type fibromatosis often requires surgery or ureteral stent insertion. Although radiation therapy is recommended for inoperable cases of desmoid-type fibromatosis, there has been no report of treatment for hydronephrosis associated with desmoid-type fibromatosis by radiation therapy alone. We herein report a case of successful treatment for inoperable recurrence of desmoid-type fibromatosis with unilateral hydronephrosis by radiation therapy alone. CASE PRESENTATION: A 43-year-old Japanese female underwent resection of desmoid-type fibromatosis in the right inguinal region and combined resection of the right external iliac vein 5 years before. Other treatment was not performed because of her pregnancy. Four years after surgery, desmoid-type fibromatosis recurred in the right pelvic wall. Cyclooxygenase-2 selective inhibitor treatment was given for 1 year, but her desmoid-type fibromatosis enlarged to more than 10 cm, and she had swelling of her right leg and hydronephrosis of her right kidney. The patient received 50.4 Gy in 28 fractions of prophylactic irradiation using 10 MV X-ray and 9 Gy in five fractions of a sequential boost for the recurrent desmoid-type fibromatosis. Although there was temporary tumor progression at 1 month after radiation therapy, slow regression of the tumor was seen. At 5 years after radiation therapy, there was no disease progression or severe complications. CONCLUSION: We experienced successful treatment for an inoperable case of desmoid-type fibromatosis with hydronephrosis. Moderate-dose radiation therapy alone is an effective and feasible approach for the management of hydronephrosis associated with desmoid-type fibromatosis.