Desmoid Fibromatosis of the Breast: 1 Case Report and Review of the Literature

Fibromatose mammaire chez une fillette de neuf ans

Chest Wall Desmoid Tumors: Results of Surgical Intervention

Background: Aggressive angiomyxoma (AA) is a rare, locally aggressive mesenchymal neoplasm that commonly involves the vulvoperineal region of females in reproductive age [1]. AA commonly presents as a painless, gelatinous soft mass of varying size [1]. It carries a high risk of local recurrence and can rarely metastasize [1]. Aggressive angiomyxoma is often misdiagnosed because it is such a rare tumor, therefore it should always be included in the differential diagnosis of vulvar masses. The rate of misdiagnosis varies from about 70-100% [2]. It must also be distinguished from a variety of other more common benign and malignant myxoid tumors. Along with this, it should also be differentiated from Bartholin cysts, Gartner duct cyst and from a vulval lipoma [3]. The differential diagnosis should include neurofibromas, desmoids tumors, leiomyomas, sarcomas and levator hernia [4,5]. The treatment of choice for aggressive angiomyxoma is surgical excision with wide margins to help prevent local recurrences [6]. A perineal surgical approach is often most successful. The tumor can recur at any time, therefore close monitoring of the patient is necessary following surgery. Case: We present a case of aggressive angiomyxoma of the vulva in a 20-year-oldcelibate female. The patient underwent wide local excision of the tumor with clear margins. Conclusion: Aggressive angiomyxoma (AA) is a mesenchymal tumor that most commonly occurs in women between the ages of 31-35 years old [3]. The tumor usually occurs in either the perineal or pelvic region and typically presents as a slow growing, painless mass [7]. AA is considered to be an aggressive tumor because it has a high risk of infiltration and local recurrence. However, it rarely metastasizes so it has an overall good prognosis [8]. This case highlights the need to consider angiomyxoma in the differential diagnosis for tumors of unknown cause in the vulvar region [7]. Even though it is a rare diagnosis, it must be identified in order to properly treat it and prevent invasion of local structures. Histopathology is the key to correctly diagnosing this mass. Magnetic resonance imaging (MRI) can help provide additional information about the size and extent of the tumor as well. Surgical excision of the tumor with wide margins to prevent local recurrence is the treatment of choice [6]. Alternative treatments such as GnRH agonists can aid in treatment as well by decreasing the size of the tumor prior to surgery. Since the local recurrence rate is about 30-72%, close monitoring after surgery is extremely important.

OBJECTIVE. The purpose of this study was to evaluate CT as a screening tool for determining high risk of local recurrence of rectal tumors in a scenario of limited MRI availability. MATERIALS AND METHODS. Data were retrospectively analyzed for 180 consecutively registered patients with rectal adenocarcinoma and no previous treatment who underwent baseline CT and MRI staging within 30 days of each other. Two radiologists independently reviewed CT and MR images. CT scans were interpreted in multiplanar reformation. High risk of local recurrence was based on the MRI reference standard: T3cd (more than 5 mm of mesorectal fat infiltration) or T4 disease, N2 nodal status, mesorectal fascia involvement, extramural venous invasion, or positive pelvic sidewall nodes. The performance of CT for determination of high risk of local tumor recurrence was evaluated. RESULTS. Among the 180 patients 128 (71%) met MRI criteria for high risk of local recurrence. CT sensitivity was 84.4% (108/128) and specificity was 78.8% (41/52). The positive predictive value (PPV) of any high-risk CT feature was 90.7% (108/119). When T status was considered, the sensitivity of CT was 75.2% (79/105), specificity was 90.7% (68/75), and PPV was 91.9% (79/86). When tumors within 5.0 cm of the anal verge were excluded, sensitivity was 89.5% (51/57), specificity was 85.7% (24/28), and PPV was 92.7% (51/55). Using CT for disease staging could reduce MRI use by 66%. CONCLUSION. Tumors at high risk of local recurrence can be identified with CT without baseline MRI. Use of CT rather than MRI could markedly reduce costs of baseline staging and shorten time to initiation of neoadjuvant treatment.

The role of adjuvant radiotherapy in the treatment of resectable desmoid tumors

Multidisciplinary Management of Laryngeal Carcinoma

INTRODUCTION: Aggressive fibromatosis or desmoid tumors consist of infiltrative proliferations of fibroblastic and myofibroblastic cells, accounting for less than 0. 2% of breast tumors. These tumors are characterized by a locally aggressive growth pattern with frequent recurrences but are non-metastasizing. The ethiology is unknown however there is a well documented association with genetic disorders such as Gardner s syndrome. REPORTING: The authors report two cases of desmoid tumor in young women, one of them bilateral. The first case presented in a 23 year old woman, with a 3 month history of painful palpable mass with rapid growth in the upper external quadrant of the right breast associated with skin retraction. The mammogram and ultrasound show in the right breast two images suggesting a carcinoma and in left breast another image BI-RADS 5. Core biopsies were performed, the right breast suggested a desmoid tumor, but the left one was informed as normal tissue. To establish the diagnosis an excisional biopsy in both breasts was performed. The second case consists of a 22 year old woman, who presented with a rapidly growing breast mass with a presumptive diagnosis of phylloides tumor. A lumpectomy was performed with an attempt of free margins however macroscopically it was difficult to distinguish between the tumor and the normal breast tissue. Delayed biopsy informed a desmoid tumor. Both patients were treated with mastectomy followed by immediate breast reconstruction with expansors. The second one completed her reconstruction with implants, contralateral symmetrization and nipple areola complex reconstruction. DISCUSSION: Even though this tumor has no metastatic potential, wide excision is required because of the higher risk of local recurrence when it is incompletely excised. The role of radiotherapy and of medical treatments such as antioestrogens remains unclear. Desmoid tumors should be considered in the differential diagnosis of a rapid growth tumor in young women, in this way local treatment can be achieved with better oncologic and cosmetic results.

Multicenter ambispective cohort analysis. The purpose of this study is to determine whether applying Enneking's principles to surgical management of primary bone tumors of the spine significant decreases local recurrence and/or mortality. Oncologic management of primary tumors of spine has historically been inconsistent, controversial, and open to individual interpretation. A multicenter ambispective cohort analysis from 4 tertiary care spine referral centers was done. Patients were analyzed in 2 cohorts, "Enneking Appropriate" (EA), surgical margin as recommended by Enneking, and "Enneking Inappropriate" (EI), surgical margin not recommended by Enneking. Benign tumors were not included in mortality analysis. Two cohorts represented an analytic dataset with 147 patients, 86 male, average age 46 years (range: 10-83). Median follow-up was 4 (2-7) years in the EA and 6 (5.5-15.5) years in the EI. Seventy-one patients suffered at least 1 local recurrence during the study, 57 of 77 in the EI group and 14 of 70 in the EA group. EI surgical approach caused higher risk of first local recurrence (P < 0.0001). There were 48 deaths in total; 29 in the EI group and 19 in the EA. There was a strong correlation between the first local recurrence and mortality with an odds ratio of 4.69, (P < 0.0001). EI surgical approach resulted in a higher risk of mortality with a hazard ratio of 3.10, (P = 0.0485) compared to EA approach. Surgery results in a significant reduction in local recurrence when primary bone tumors of the spine are resected with EA margins. Local recurrence has a high concordance with mortality in resection of these tumors. A significant decrease in mortality occurs when EA surgery is used.

Because knowledge has advanced in several fields related to the treatment of early breast cancer, revising the landmark 1992 standards for breast-conservation treatment by these four organizations is appropriate. The current report reviews and summarizes the literature and describes the selection and evaluation of patients, the technical aspects of surgical treatment and irradiation, follow-up care, and areas for further research.

Aggressive Fibromatosis of the Chest Associated With a Silicone Breast Implant

Giant Desmoid Tumor of the Chest Wall

Subsets of Women With Close or Positive Margins After Breast-Conserving Surgery With High Local Recurrence Risk Despite Breast Plus Boost Radiotherapy

BackgroundThe initial approach to the treatment of desmoid tumors has changed from surgical resection to watchful waiting. However, surgery is still sometimes considered for some patients, and it is likely that a few patients would benefit from tumor removal if the likelihood of local recurrence could be predicted. However, to our knowledge, there is no tool that can provide guidance on this for clinicians at the point of care.Question/purposeWe sought to explore whether a combined molecular and clinical prognostic model for relapse in patients with desmoid tumors treated with surgery would allow us to identify patients who might do well with surgical excision.MethodsThis was a retrospective, single-center study of 107 patients with desmoid tumors who were surgically treated between January 1980 and December 2015, with a median follow-up of 106 months (range 7 to 337 months). We correlated clinical variables (age, tumor size, and localization) and CTNNB1 gene mutations with recurrence-free survival. Recurrence-free survival was estimated using a Kaplan-Meier curve. Univariate and multivariable analyses of time to local recurrence were performed using Cox regression models. A final nomogram model was constructed according to the final fitted Cox model. The predictive performance of the model was evaluated using measures of calibration and discrimination: calibration plot and the Harrell C-statistic, also known as the concordance index, in which values near 0.5 represent a random prediction and values near 1 represent the best model predictions.ResultsThe multivariable analysis showed that S45F mutations (hazard ratio 5.25 [95% confidence interval 2.27 to 12.15]; p < 0.001) and tumor in the extremities (HR 3.15 [95% CI 1.35 to 7.33]; p = 0.008) were associated with a higher risk of local recurrence. Based on these risk factors, we created a model; we observed that patients considered to be at high risk of local recurrence as defined by having one or two factors associated with recurrence (extremity tumors and S45F mutation) had an HR of 8.4 compared with patients who had no such factors (95% CI 2.84 to 24.6; p < 0.001). From these data and based on the multivariable Cox models, we also developed a nomogram to estimate the individual risk of relapse after surgical resection. The model had a concordance index of 0.75, or moderate discrimination.ConclusionCTNNB1 S45F mutations combined with other clinical variables are a potential prognostic biomarker associated with the risk of relapse in patients with desmoid tumors. The developed nomogram is simple to use and, if validated, could be incorporated into clinical practice to identify patients at high risk of relapse among patients opting for surgical excision and thus help clinicians and patients in decision-making. A large multicenter study is necessary to validate our model and explore its applicability.Level of EvidenceLevel III, therapeutic study.

Preoperative staging for rectal cancer

Surgical margin status is reported to be a relevant prognostic factor in head and neck squamous cell carcinoma (HNSCC), associated with a high risk of local recurrence. This study examines whether gene-promoter hypermethylation could be detected in HNSCC surgical margins with no histologic evidence of malignancy, and if so, whether it reflects epigenetic events of primary tumors. Promoter methylation status of MGMT, p16, and DAP-K genes was evaluated by methylation-specific PCR in 20 primary HNSCC tumors. Histopathologically negative surgical margins of hypermethylated tumors were collected, and their methylation status compared with the primary tumor status. Promoter hypermethylation in at least one of the three tested genes was detected in 65% (13 of 20) of tumors. MGMT was hypermethylated in 50% (10 of 20), DAP-K in 45% (9 of 20), and p16 in 20% (4 of 20) of tumors. Methylation status was analyzed in 35 margins from 11 of 13 patients showing promoter hypermethylation in the tumor tissue. Identical methylation events were seen for at least one gene in primary tumor and surgical margins in 9 of 11 cases (82%). Association was found for gene-specific hypermethylation status in tumors and paired surgical margins, and gene-specific concordance was 63% for MGMT (kappa = 0.24), 90% for DAP-K (kappa = 0.74), and 90% for p16 (kappa = 0.79). Our results support the hypothesis that detection of gene promoter hypermethylation in HNSCC tumor cells-free surgical margins may be a helpful biomarker to identify molecularly altered fields in areas adjacent to the tumor.