[Long-term Effectiveness of “West China Classification” Guided Surgical Treatment of Desmoid-Type Fibromatosis in Shoulder Girdle] [Article in Chinese]

The clinical data of 32 patients with desmoid-type fibromatosis (DTF) in the shoulder girdle admitted between June 2003 and December 2016 were retrospectively analyzed, including 14 males and 18 females, aged 14-56 years with an average age of 36.8 years. The maximum diameter of the tumor was 7-19 cm, with an average of 11.1 cm. According to the “West China Classification” of DTF in the shoulder girdle, there were 4 cases of region I, 3 cases of region II, 6 cases of region III, 3 cases of region IV, 5 cases of regions I+II, 5 cases of regions II+III, and 6 cases of regions I+II+III. In addition, the involvement of blood vessels and nerves was also taken into consideration for choosing a surgical approach. Finally, 12 cases were operated via anteroposterior approach (group A), 14 via posterior approach (group B), and 6 via combined anterior-posterior approach (group C). The 1993 Musculoskeletal Tumor Society (MSTS93) score (including pain, limb function, satisfaction, hand position, hand flexibility, and lifting ability), Japanese Orthopedic Association (JOA) score, range of motion (ROM) of shoulder joint (including flexion, extension, abduction, and adduction), and complications of patients in the 3 groups were recorded and compared. All the 32 patients were followed up 30-190 months, with an average of 94.6 months. At last follow-up, complications occurred in 5 cases (15.6%), including 2 cases (16.6%) in group A, 2 (14.3%) in group B, and 1 (16.6%) in group C. There was no significant difference in the incidence of complications among the 3 groups ( P=1.000). Tumor recurrence occurred in 5 (15.6%) cases, including 1 (8.3%) case in group A, 2 (14.3%) in group B, and 1 (16.6%) in group C. No significant difference was found in the recurrence rate among the 3 groups ( P=1.000). At last follow-up, MSTS93 score of pain, limb function, satisfaction, hand flexibility, and hand position in groups A and B were significantly better than those in group C ( P<0.05), even though no significant difference existed between group A and group B ( P>0.05). The lifting ability score in group C was significantly lower than in group A ( P<0.05), and no significant difference was found between other groups ( P>0.05). The JOA score and flexion, extension, abduction, and adduction activities of shoulder in groups A and B were significantly better than those in group C ( P<0.05). The extension activity in group A was significantly better than that in group B ( P<0.05), the flexion activity in group B was significantly better than that in group A ( P<0.05). There was no significant difference in other indexes between groups A and B ( P>0.05). Taking a rational approach to fully expose and completely remove the tumor is the key point of surgical treatment for patients with DTF in the shoulder girdle. At the same time, preservation of vital structures and reconstruction of soft tissues should also be taken into consideration. Overall, surgical treatment under the guidance of “West China Classification” of DTF in the shoulder girdle has achieved satisfactory long-term effectiveness.

A 73-year-old Japanese male complained of a painless, left anterior neck mass of 3-month duration. Computed tomography revealed the mass measured 9 × 7 × 6 cm and extended to the anterior mediastinum, with invasion of the left clavicle. En bloc resection of the tumor with the left sternoclavicular joint and the medial portion of the left clavicle was performed by cervico-thoracic approach with L-shaped partial sternotomy. Histopathologic examination showed fascicular growth of spindle-shaped cells separated by abundant collagen. Immunohistologic examination revealed nuclear staining of Beta-catenin and cytoplasmic staining of vimentin. Genetic analysis of 160 cancer-related genes by next-generation sequencing (NGS) demonstrated only a missense mutation in the CTNNB1 gene (c.133T>C, p.S45P). DF extending from the neck to the anterior mediastinum is rare. We report the complete resection of a large-sized DF with the clavicular invasion. A low-frequency CTNNB1 mutation of DF was identified. Genetic analysis with NGS was beneficial for the diagnosis.

Desmoid-type fibromatosis is a rare, potentially locally aggressive disease. Herein we present our experience in the treatment with radiotherapy. In total 40 patients who received 44 treatments from 2009 to 2018 at the Heidelberg University Hospital with photons (N = 28) as well as protons (N = 15) and carbon ions (N = 1) were investigated. The median age at radiotherapy was 41 years [range 8-78]. Familial adenomatous polyposis (FAP) was confirmed for nine patients and 30 had a unifocal desmoid tumor. The localizations were abdominal wall, abdominopelvic cavity, thoracic wall, extremity, head and neck and trunk. The median prescribed dose was 54 Gy/ Gy (RBE) [range 39.6-66, IQR 50-60]. Eleven treatments were performed at the time of first diagnosis; 33 at the time of progression or recurrence. Post-operative radiotherapy was performed in 17 cases. The median follow-up time was 32 months [1-153]. At the end of the follow-up interval all patients but one were alive. The estimated local progression free survival of the treated lesion in 3 and 5 years was 76.4% and 63,8%, respectively. The progression-free survival in 3 and 5 years was 72.3 and 58.4% and the overall survival was 97.4 and 97.4%, respectively. In case of macroscopic tumor (N = 31) before radiotherapy a partial remission was observed in 12 cases (38.7%) and a complete remission in 4 cases (12.9%). Progression was observed in 13 (29.5%) cases, predominantly at the margin of the planning target volume (PTV, N = 5, 38,4%) followed by progression within the PTV (N = 4, 30.8%). In univariate analysis multifocal localization was associated with impaired progression-free survival (p = 0.013). One patient developed a grade V gastrointestinal bleeding, otherwise no acute toxicity >°III was observed. Late toxicity was depending on the localization of the desmoid tumor and was especially severe in patients with FAP and abdominopelvine desmoids including gastrointesinal fistula, perforation and abscess. Radiotherapy in the treatment of desmoids can lead to long term control. Treatment of patients with abdominopelvine desmoids should be avoided, as the risk of higher-grade complications is substantial.

Image-guided non-invasive high-intensity focused ultrasound (HIFU) has been gaining recognition in treating musculoskeletal tumors and desmoids. However, there is no consensus on the appropriate perioperative management for patients on ongoing anticoagulation who undergo HIFU ablation. Image-guided HIFU treatment was performed in swine on an ongoing oral anticoagulation protocol (N = 5) in two treatment sessions seven days apart. On day one, a total of twenty locations were ablated, and on day eight, ten more muscle ablations were performed, and the animals were euthanized. Imaging, clinical examination, and histopathology were performed to investigate treated tissue for bleeding. Imaging, clinical examination, and histopathology revealed either no bleeding or, in some samples, only small scattered cavities (0.2-2 mm in diameter) filled with blood. Noninvasive HIFU ablation of muscle may not require a coagulation profile within normal limits.

A total of 14 women and 1 man underwent surgery on desmoid type fibromatosis of the breast. The average patient age was 49 years (range: 22-72 years). The mean tumor size was 2.2 cm (range: 0.8-4.2 cm). The tumor was detectable in mammography in 12 out of 13 patients and in all 15 patients in sonography. MRI was performed preoperatively in 6 patients; in all of the patients, the tumor was visualized with inhomogeneous contrast enhancement. In the imaging procedures, all desmoid type fibromatoses were classified as suspicious. Performing the core biopsy, preoperative histology confirmed desmoid fibromatosis in 12 out of 15 patients. Nuclear stain for beta-catenin was positive in 7 out of 10 patients. Negative staining was found for AE1/A3 in 10 out of 10 and CD34 in 12 out of 12 patients. In all of the patients, a single-stage operation without the detection of border-forming tumor margins was performed. The follow-up interval ranged from 16 to 96 months (mean: 44.86 months, median: 43 months). In this follow-up period, no patient was diagnosed with desmoid tumor recurrence. In imaging, desmoid type fibromatosis of the breast has typical malignancy-related criteria. Extensive preoperative diagnostics enable the planning of complete primary excision of the lesion and reduce the recurrence risk.

Desmoid type fibromatoses has proven to be a diagnostic and therapeutic challenge, as they often appear primarily as a carcinoma of the breast with a high recurrence risk. A digital archive search was performed for the period from 2009 to the end of 2018. Inclusion criteria consisted of histological examination of at least the surgical specimen in the reference pathology department and at least a second opinion diagnosis in the reference radiology department. A total of 14 women and 1 man underwent surgery on desmoid type fibromatosisof the breast. The average patient age was 49 years (range: 22?72 years). The mean tumor size was 2.2 cm (range: 0.8?4.2 cm). The tumor was detectable in mammography in 12 out of 13 patients and in all 15 patients in sonography. MRI was performed preoperatively in 6 patients; in all of the patients, the tumor was visualized with inhomogeneous contrast enhancement. In the imaging procedures, all desmoid type fibromatoses were classified as suspicious. Performing the core biopsy, preoperative histology confirmed desmoid fibromatosis in 12 out of 15 patients. Nuclear stain for beta-catenin was positive in 7 out of 10 patients. Negative staining was found for AE1/A3 in 10 out of 10 and CD34 in 12 out of 12 patients. In all of the patients, a single-stage operation without the detection of border-forming tumor margins was performed. The follow-up interval ranged from 16 to 96 months (mean: 44.86 months, median: 43 months). In this follow-up period, no patient was diagnosed with desmoid tumor recurrence. In imaging, desmoid type fibromatosis of the breast has typical malignancy-related criteria. Extensive preoperative diagnostics enable the planning of complete primary excision of the lesion and reduce the recurrence risk.