Treatment of a Desmoid Tumor That Enlarged During Pregnancy: A Case Report and Literature Review.

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.

Fibromatosis del recto anterior del abdomen. Reporte de caso / Fibromatosis of the rectus abdominis. Case report

La fibromatosis es un tumor fibroblástico benigno, poco frecuente. El músculo recto anterior del abdomen es uno de los músculos de la pared abdominal más habitualmente afectado. Es un tumor con una alta frecuencia en la invasión local y recurrencia. La marcación para ß-catenina en el inmunofenotipo certifica el diagnóstico. Los márgenes negativos microscópicos (R0) deben ser el objetivo de la resección quirúrgica. La edad joven, el gran tamaño tumoral y los márgenes positivos son parámetros asociados a la recurrencia local. Presentamos el caso clínico de una paciente joven a la cual en el contexto de una abdominoplastia se le diagnostica una tumoración en el sector medio del recto anterior del abdomen izquierdo. Se hizo una biopsia incisional que certificó que correspondía a una fibromatosis abdominal (FA). Confirmado el diagnóstico se realizó resección de la tumoración y reparación de la pared abdominal con malla de polipropileno.

Fibromatosis is a rare, benign fibroblastic tumor. The rectus abdominis muscle is one of the most commonly affected abdominal wall muscles. It is a tumor with a high frequency of local invasion and recurrence. Marking for ß-catenin in the immunophenotype certifies the diagnosis. Microscopic negative margins (R0) should be the target of surgical resection. Young age, large tumor size, and positive margins are parameters associated with local recurrence. We present the clinical case of a young patient who, in the context of an abdominoplasty, was diagnosed with a tumor in the middle sector of the left rectus abdominis. An incisional biopsy was performed, which certified that it corresponded to abdominal fibromatosis (AF). Once the diagnosis was confirmed, the tumor was resected and the abdominal wall repaired with polypropylene mesh

Surgical management of abdominal desmoids: a systematic review and meta-analysis.

BACKGROUND: Desmoid tumours are benign fibromatous tumours arising from dysregulated myofibroblast proliferation within musculoaponeurotic structures. They can occur sporadically but more commonly are associated with genetic syndromes such as familial adenomatous polyposis (Sakorafas et al. in Surg Oncol 16(2):131-142, 2007) (FAP). Mutations in either the Wnt, ß-catenin or APC genes are 'key' triggers for the development of these tumours (Howard and Pollock in Oncol Ther 4(1):57-72, 2016). Classically, these tumours do not metastasise; however, they are associated with significant morbidity and mortality due to their infiltrative pattern and/or local invasion. Historically, surgical resection was the cornerstone of treatment. There remains paucity of data regarding outcomes following the surgical management of abdominal desmoid tumours in terms of success, recurrence and morbidity. OBJECTIVES: The aim of this review was to assess the current evidence for surgical management of abdominal desmoid tumours in terms of success, recurrence and morbidity. METHODS: A systematic search of articles in PubMed, EMBASE and The Cochrane Library databases was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines for the period from January 2000 to November 2020. RESULTS: Twenty-three studies were included, of which, 749 patients had surgical resection (696 for primary and 53 for recurrent desmoids), 243 patients (18.8%) were medically managed and 353 patients (27.3%) underwent surveillance. Median follow-up was 51.4 months (range 1-372). Six-hundred and ninety-six of the 749 resections (92.9%) underwent primary desmoid resection, with the remaining 53 (7.1%) undergoing resection for recurrence. One-hundred and two surgically managed patients (19%) developed a (re)recurrence, with mesenteric involvement the commonest site for recurrence (55%). When comparing recurrence post-surgery to progression following medical therapy, there was a trend towards better outcomes with surgery, with 25% of surgical patients having a recurrence versus 50.5% having progression with medical therapy [OR 0.40 (95% CI 0.06-2.70), p = 0.35]. Major morbidity following surgery was 4.4% (n = 33) with 2% (n = 14) mortality within 30 days of resection. CONCLUSION: The management of desmoids has considerable heterogeneity. Surgical resection for abdominal desmoids remains a valid treatment option in highly selective cases where negative margins can be obtained, with low major morbidity and/or mortality.

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.

A Case of Mesenteric Desmoid Tumor Causing Bowel Obstruction After Laparoscopic Surgery.

BACKGROUND: A desmoid tumor is a rare neoplasm that is derived from soft tissues. Although it shows benign characteristics pathologically, local recurrence can occur. CASE REPORT: We herein report the case of a patient with an intraabdominal desmoid tumor that developed 3 years after laparoscopic appendectomy for acute appendicitis. A 59-year-old male visited our emergency room with complaints of abdominal pain and fullness. Abdominal computed tomography revealed distention of the small intestine with a point of obstruction by an intraabdominal tumor-like region. Pathological findings showed that the tumor was compatible with desmoid fibromatosis. CONCLUSION: In cases with an intraabdominal tumor after laparoscopic surgery, it is important to consider the possibility of a desmoid tumor, since it is difficult to diagnose it accurately before surgery.

Giant mesenteric fibromatosis associated with non-Hodgkin lymphoma. A case report and literature review.

BACKGROUND: Mesenteric fibromatosis is a benign locally-aggressive mesenchymal neoplasm that lacks the potential for metastasis. It is related to Gardner's Syndrome, previous trauma, abdominal surgery, and prolonged intake of oestrogen. Differentially diagnosing this from similar tumours is crucial in order for establishing the appropriate treatment and only immunohistochemical features can be used for a definitive diagnosis. Although medical therapies play a role in the treatment of mesenteric fibromatosis, surgical resection is the gold-standard procedure. METHODS: Our case study is a 40-year-old male with a concomitant diagnosis of non-Hodgkin lymphoma and mesenteric fibromatosis, not associated with any of the risk factors mentioned above. We performed CT and PET scans and observed a vascularised and well-defined mesenteric centre-abdominal hypermetabolic solid mass in contact with the gastric body, duodenum, body and tail of the pancreas, transverse colon, and spleen. An ultrasound-guided tru-cut biopsy revealed features suggestive of mesenteric fibromatosis. RESULTS: An elective laparotomy was carried out and a giant mass, arising from mesentery, was excised, including a partial gastrectomy and segmental resection of the transverse colon. Distal pancreatectomy, small bowel resection and successive splenectomy were performed due to a large hypertensive component. The postoperative period was uneventful. The histopathology of the surgical pieces was compatible with intra-abdominal desmoid fibromatosis. CONCLUSION: As far as we know from the literature, this is the largest mesenteric fibromatosis tumour ever to be excised. We also noticed that this is the first reported case of the concomitant presence of mesenteric fibromatosis and non-Hodgkin lymphoma that is not related to any of the described risk factors. Further research is needed to establish what type of association this presentation may indicate.

Efficacy and safety of cyclooxygenase 2 inhibitors for desmoid tumor management: a systematic review.

The efficacy and safety of cyclooxygenase 2 (COX2) inhibitors for the treatment of desmoid-type fibromatosis (DF) are unclear. Therefore, we systematically reviewed related literature to assess the efficacy and safety of COX2 inhibitors for DF treatment. We searched pertinent literature between January 1999 and August 2017 to identify relevant studies using the keywords "Fibromatosis, aggressive" and "Cyclooxygenase inhibitors." Thereafter, we screened and determined the quality of the studies using the Grading of Recommendations Assessment, Development, and Evaluation system and extracted the article data. The critical outcomes selected were the efficacy and adverse effects of COX2 inhibitors. Efficacy was evaluated in terms of clinical benefit when patients showed complete response, partial response, and stable disease. Thirty-one articles were identified from the database search, and one was identified through the reviewers' manual search. Finally, we retrieved six studies, including three case reports, comprising 89 patients after the first and second screenings. Fifty-three patients were excluded because three studies were reported from the same institution; hence, in total, 36 patients were included. Clinical benefit was noted in 64% of the patients. Three adverse effects were identified from the records of the six extracted studies. The strategy of watchful waiting using COX2 inhibitors with few side effects is weakly recommended for DF, especially DF patients with pain.

What is the best front-line approach in patients with desmoid fibromatosis? - A retrospective analysis from a reference center.

INTRODUCTION: Desmoid fibromatosis (DF) is a locally aggressive, not metastasizing tumor associated with high local recurrence rates. Surgery was a standard-of-care for DF treatment; however, recently, conservative treatment and active surveillance are preferred. This study aimed to evaluate the real-life outcomes of DF treatment. MATERIALS AND METHODS: All consecutive patients diagnosed with DF and treated between 01.1999 and 12.2018 at one sarcoma reference institution were included in this retrospective analysis. Kaplan-Meier estimator, long-rank test, Cox regression model, and Chi2 tests were used for statistical analyses. RESULTS: The analyses included 363 patients (254 female, 109 male). 195 patients (53.7%) underwent surgical resection, and 139 (38.3%) experienced a watch-and-wait approach with or without concomitant therapy with nonsteroid anti-inflammatory drugs (NSAIDs) in the first line. Disease recurrence/progression occurred in 43.2% of patients treated with surgery and 42.6% in the watch-and-wait group, resulting in 5-year event-free survival (EFS) rates of 60% and 55%, respectively. There was no difference in EFS between both groups (HR1.28, 95%CI 0.91-1.79). Surgery without prior biopsy and extra-abdominal wall location was associated with inferior outcomes. CONCLUSIONS: Results of DF treatment in our center showed that watch-and-wait approach ± NSAIDs has similar efficacy to upfront surgery and allows to avoid unnecessary surgery in approximately half of the patients, primarily when tumors are located in unfavorable sites, like extremities.

Giant desmoid tumour of abdominal wall: resection and reconstruction by posterior component separation.

Management of large abdominal wall desmoid tumours is complicated due to the unpredictable behaviour of desmoids and the need for laborious reconstruction of the abdominal wall after wide local excision. A multidisciplinary team approach, including surgeons, oncologists and plastic surgeons, is necessary for proper management. This case highlights the diagnostic and surgical challenges related to the reconstruction of abdominal wall defect, after radical excision of a 30×30×25 cm desmoid tumour, originating from left rectus muscle. The defect was closed successfully by a perspicuous technique of posterior component separation. The awareness of this straightforward technique will allow the surgeons to do these radical procedures with confidence and without any consternation of complex reconstructive procedures.

Desmoid tumours in the surveillance era: What are the remaining indications for surgery?

The treatment of desmoid tumours (DTs) has greatly evolved in recent years, and surgery is no longer considered a first-line treatment. Percutaneous biopsy with molecular analysis for beta-catenin or APC gene mutation provides a certain diagnosis. After imaging, a specialized multidisciplinary tumour board (MDT) addresses the following therapeutic strategy. As more than half of patients stabilize or regress, despite initial progression, active surveillance is offered to most patients as the first option. Surgery is proposed for complications such as perforation and occlusion, which sometimes are the first manifestations of the disease. In these cases, limiting surgery to the treatment of complications and leaving the tumour in place is possible if significant bowel sacrifice is needed, especially in patients with previous colectomy for polyposis. Medical therapy is discussed by the MDT in cases of functional or life-threatening masses and is preferred to local treatments that could be mutilating and often incomplete. First-line surgery is now contraindicated in cases of incomplete unplanned surgery, recurrence, pregnancy or DTs occurring in familial adenomatous polyposis (FAP). The best indications of second-line surgery are significantly progressing disease when morbidity is acceptable, such as parietal locations. Medical and other locoregional treatments (radiotherapy, isolated limb perfusion and cryotherapy) should be considered by the MTB when surgery might cause sequelae.

Retroperitoneal fibromatosis presenting as a mesenteric mass: A case report.

RATIONALE: Fibromatoses or desmoid tumors are relatively rare tumors derived from the musculoaponeurotic system. This tumor has no specific clinical symptoms and it is sometimes misdiagnosed as other diseases such as gastrointestinal stromal tumors (GISTs). PATIENT CONCERNS: A 28-year-old man visited Peking Union Medical College for a tangible abdominal mass without abdominal pain or distention. DIAGNOSES: Considering the imaging characteristics and clinical manifestation, this mass was primarily diagnosed as GIST before surgery. During the surgery, the occupancy was found under the ileocecal mesentery, with grayish white appearance, tough texture, and poor mobility, which was not consistent with the character of the GIST. After the surgery, pathological examination and individual immunohistochemistry results demonstrated that the lesion was compatible with the diagnosis of retroperitoneal fibromatosis with purulent inflammation of chronic lymphadenitis. INTERVENTIONS: Therefore, we decided to perform tumor mass resection, right colon resection, partial duodenum resection, and intestinal anastomosis on laparotomy, but the right ureter was retained. After excision of the tumor, the ends of the intestine segment were continuously sutured. OUTCOMES: The patient experienced no intraoperative or postoperative complications, and was discharged 3 days after surgery. Periodic follow-up physical examinations such as the abdominal ultrasound and computed tomography were performed each 3 months, and no evidence of recurrence was observed during the whole 12 months. LESSONS: To sum up, intra-abdominal fibromatosis is an extremely rare tumor that must be differentiated from other tumors of the digestive tract, and pathological and immunohistochemical examination is a critical part of the diagnosis. Early diagnosis of fibromatosis is essential for the outcome. Extensive resection of the mass minimizes the risk of relapse.

An Intra-abdominal Solid-cystic Desmoid That Emerged after Distal Gastrectomy.

Desmoid is a locally aggressive fibroblastic neoplasm, typically showing a heterogeneous solid mass, and its pathogenesis is multifactorial, including surgical scars. We herein report a rare case of an intra-abdominal desmoid, consisting of solid and cystic components covered with epithelial linings, that emerged after distal gastrectomy. The preoperative diagnosis was inconclusive, so laparotomy was performed. Histopathology of the solid component showed proliferating spindle cells, which were positive for beta-catenin in their nuclei. Clinicians need to bear in mind that desmoids can appear in a solid-cystic form, and immunostaining of beta-catenin should be applied for tumors that emerge around postoperative wounds.

Outcome of Primary Desmoid Tumors at All Anatomic Locations Initially Managed with Active Surveillance.

BACKGROUND: The behavior of desmoid tumors is unpredictable and varies from spontaneous remission to symptomatic and radiologic progression. This study aimed to evaluate the radiologic and symptomatic course of the disease in patients initially managed with active surveillance. METHODS: Patients with a primary desmoid tumor at any anatomic location diagnosed between 1998 and 2016 were identified in a prospectively maintained database from a single sarcoma reference center in the United Kingdom. Inverse univariate Cox proportional hazard regression analyses were conducted to evaluate the course of the disease and indications for initiating treatment. RESULTS: The study identified 168 patients with a primary desmoid tumor initially managed with active surveillance. The tumors were located in the abdominal wall (n = 61, 36%), an extremity (n = 51, 30%), chest wall (n = 30, 18%), intra-abdominal site (n = 15, 9%), or elsewhere (n = 11, 6%). Of all the patients, 36% experienced radiologic progressive disease, 36% had stable disease, and 27% regressed. The patients younger than 50 years were more likely to progress (p = 0.046), whereas the patients with chest wall or upper-extremity tumors reported significantly more pain (p = 0.01). Eventually, 46% of the patients proceeded to treatment. The median time to start of treatment after initial surveillance was 31 months, whereas the median follow-up time for the patients not receiving any treatment was 40.5 months. The indications for initiation of treatment were pain (32%), progression (31%), or both (13%). CONCLUSIONS: Patients with desmoid tumors can be managed with initial active surveillance, although almost half of patients may eventually need treatment. Pain, tumor progression, or both are the most common indications for the initiation of treatment.

A giant mesenteric fibromatosis involving the muscular layer of the colon wall: A case report.

RATIONALE: Mesenteric fibromatosis (MF) is a rare tumor whose biological behavior is intermediate between benign fibrous neoplasms and fibrosarcomas, and the characteristic of these tumors are local aggressive lesions which is prone to local recurrence but non-metastasizing. The common symptom is abdominal distention or painless mass. We report a case of giant MF in abdominal cavity with abdominal distention as the main symptom. PATIENT CONCERNS: A 26-year-old male presented with 2-month history of abdominal distention, lack of appetite, and symptoms grew progressively more debilitating with time. DIAGNOSES: This patient underwent a contrast-enhanced computed tomography scan which showed a giant (37 × 25 × 13 cm), inhomogeneous enhancing, well-defined, and soft tissue density mass in abdominal cavity, possibly arising in mesocolon, which suggested a high possibility of MF. The postoperative pathology showed that the tumor cells to be positive for ß-catenin, vimentin, negative for CD34, CD117, DOG-1, S-100, Desmin, which confirmed the diagnosis of MF. INTERVENTIONS: Exploratory laparotomy was performed, which revealed a large mass involving the transverse colon wall, the root of mesocolon, and encasing the middle colic vessels and the 1st branch of jejunal arteries. The complete surgical resection was performed and the mass weighted 10 kilograms (kg). OUTCOMES: The patient recovered uneventfully and was discharged 9 days after surgery. Three-month, 6-month, 12-month and 18-month on follow-up after surgery, showed no evidence of recurrence. LESSONS: The MF is a very rare tumor, especially a giant tumor (10 kg) involving the muscular layer of colon wall. In addition, treatment of giant MF still remains a challenge. We consider that surgical resection with negative margins is the goal but not at the expense of damaging the function of vital organs. Specific measures should be considered based on the individual patient in order to relieve symptoms and improve quality of life.

Surgical excision versus observation as initial management of desmoid tumors: A population based study.

SYNOPSIS: Desmoid tumors can be safely managed with watchful waiting, including either observation alone or tamoxifen/NSAIDs. Surgery at first presentation can be associated with significant treatment burden. BACKGROUND: Immediate surgery was historically recommended for desmoid tumors. Recently, watchful waiting, (tamoxifen/NSAIDs or observation alone), has been advocated. METHODS: All diagnoses of desmoid tumor within the Alberta Cancer Registry from August 2004 to September 2015 were identified. Patients with FAP were excluded. Demographics, tumor characteristics and treatment and outcome data were collected. Outcomes were compared between immediate surgery and watchful waiting. The effect of abdominal wall site on progression and recurrence and the effect of microscopic margin on recurrence were assessed with Fisher's exact test. RESULTS: We identified 111 non-FAP patients. Median follow-up was 35 months from diagnosis. 74% were female. Mean age was 42. Fifty (45%) underwent watchful waiting, of whom 21(42%) progressed, with median PFS of 10 months. Fifty-three (48%) underwent resection at presentation, of whom 8 (15%) recurred, with median disease-free survival of 22 months. Abdominal wall lesions were equally represented in both groups, and equally likely to progress on watchful waiting (50% vs 39%, p = 0.53), but there was a trend toward decreased recurrence after surgery. (5% vs 23%, p = 0.08). Microscopic margin had no effect on recurrence (14% of margin negative vs 20% of margin positive, p = 1.0). CONCLUSIONS: Watchful waiting was successful in 58% of patients, and a further 28% only required one aggressive treatment thereafter, for a total of 86%. Surgery had a favorable recurrence rate (15%), but some recurrences were associated with significant treatment burden. Treatment should be tailored to individual patients in a multidisciplinary setting. A trial of observation appears warranted in most patients. Recurrence rate was not affected by positive margins.

Desmoid-type fibromatosis mimicking cystic retroperitoneal mass: case report and literature review.

BACKGROUND: Retroperitoneal desmoid-type fibromatosis (DF) is an uncommon mesenchymal neoplasm presenting as a firm mass with locally aggressive features. It usually manifests as a well-circumscribed or ill-defined, solid mass on cross-sectional imaging. Cystic changes of DF have been described in the literature in association with prolonged medical treatment or abscess formation. However, spontaneous cystic change is rarely reported. CASE PRESENTATION: Here we report the case of a 46-year-old patient with a DF mimicked a large cystic tumor in the retroperitoneum. Ultrasonography and computed tomography were performed in order to search for localizations and characteristics of the cystic tumor. Radiological findings showed an oval cystic mass with a relatively thick wall, measuring 18.3 × 12.3 × 21.5 cm in the left upper abdomen. Laparoscopic spleen-preserving distal pancreatectomy was performed and histopathological examination by immunohistochemical study enabled us to diagnose a DF invading the pancreatic parenchyma. The patient remained asymptomatic during an 8-month follow up period. CONCLUSIONS: We report an extremely rare case of retroperitoneal DF with spontaneous cystic change. DF can manifest as a mainly cystic mass with a thick wall, as in our case, which makes the correct diagnosis difficult. DF should be included in the preoperative differential diagnosis of a cystic retroperitoneal mass, regardless of its rarity.

Misdiagnosis of aggressive fibromatosis of the abdominal wall: A case report and literature review.

RATIONALE: Aggressive fibromatosis (AF) of abdominal wall is also called desmoid tumor, ligament tumor, fibrous tissue tumor hyperplasia, tendon membrane fibroma or soft tissue ligament fibroma, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838. This disease has been mistaken for a benign lesions for a long time because when the cells were examined by pathology often show normal mitosis, and distant metastases are not found clinically, but actually the disease is locally invasive and shows a local invasive growth. So it is a rare low-grade malignant soft tissue tumor. At present, the main treatment for the disease is operation, and radiotherapy and hormone therapy have a certain effect, but these therapies are not ideal. PATIENT CONCERNS: A 32-year-old woman, who underwent cesarean section three years ago came to the hospital for finding a mass on abdominal wall for half a month. DIAGNOSES: Mass of abdominal wall. INTERVENTIONS: Underwent surgery. OUTCOMES: Pathology: The lesion is aggressive fibromatosis of abdominal wall (ligament tumor of abdominal wall). LESSONS: We discussed the particularity of its clinical characteristics, treatment strategies and prognosis combined with literature review, and we think the surgeons need to pay high attention to this disease and make more patients get timely, correct and reasonable treatment, so as to improve the quality of life.