ABSTRACT
Nine cases of mesenteric desmoid-type fibromatosis were diagnosed and treated in Taizhou Hospital, Wenzhou Medical University between January 2010 and May 2022, including 2 females and 7 males, aged 16 to 59 years. The lesions were in the mesentery of small intestine with 7 cases, ileocecal junction with 1 cases and transverse colon with 1 case. The tumors had an unclear boundary and no envelope, the section was solid, gray and tough. The mean maximum diameter was (10.7±8.5) cm (range 3.5-33.0 cm). Microscopically, fusiform fibroblasts and myofibroblasts were parallel, bunched or staggered, buried in a large amount of extracellular collagen. The cell morphology was relatively consistent, without obvious atypia, and mitosis was rare. Immunohistochemistry showed that the tumor cells were positive for vimentin (9/9), β-catenin (9/9), while smooth muscle actin (5/9) stains were focally positive. Ki-67 proliferation index was 1%-10%. Cytokeratin Pan, S-100, STAT6, CD117, DOG1, CD34, desmin and anaplastic lymphoma kinase stains were negative. Genetic analysis showed that there were 7 cases of c.121G>A(p.Thr41Ala) mutation of CTNNB1 gene, 1 case of c.121G>A(p.Thr41Ala) and 1 case of c.134C>T(p.Ser45Phe) double mutation, and 1 case of wild type. Tumors were surgically resected in all 9 cases. Eight cases had no recurrence or metastasis, 1 case had recurrence 6 months later, and no recurrence or metastasis after additional surgical resection.
Subject(s)
Male , Female , Humans , Fibromatosis, Aggressive/diagnosis , Immunohistochemistry , Fibroblasts/metabolism , Mesentery/pathology , beta Catenin/analysisABSTRACT
Desmoid-type fibromatosis is a rare benign tumor with invasive growth, which can occur in all parts of the body, mostly in the abdominal wall, and also in the abdomen and skeletal muscle. This paper reports a case of right ureteral stenosis caused by pelvic desmoid-type fibromatosis. Pelvic tumor resection, ileocecal resection and ureterovesical replantation were performed. The patients were followed up for 18 months without local recurrence and distant metastasis.
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Abstract Desmoid-type fibromatosis (DF) is a tumor with high local recurrence rate. Sixteen patients (18 desmoid tumors) were retrospectively evaluated. Initial surgery was performed in 13/18 tumors, with complete resection in 6 (one with free margin and five with microscopic residual disease); 10/13 had local relapse. Eleven patients with 13 tumors underwent treatment with methotrexate-vinblastine. The response rate to chemotherapy was 54%, and up to 81% if stable disease cases were included. The best response was partial remission. Only 2 had grade 4 toxicity. Twelve of 15 patients had sequelae. In 8 cases sequelae were directly related to the surgical intervention and 3 of them were severe. The 5-year progression-free survival and overall survival were 30% and 93.3%, respectively. DF has a high local relapse rate, regardless of surgical margin involvement. Low dose chemotherapy achieved stable disease and even remission of the lesions with low toxicity. The high rate of sequelae is probably related to the initial surgery performed in the majority of patients and may be avoided by the use of neoadjuvant low dose chemotherapy.
Resumen La fibromatosis tipo desmoide (FD) es un tumor con alta tasa de recurrencia local. Dieciséis pacientes (18 tumores desmoides) fueron evaluados retrospectivamente. La cirugía inicial se realizó en 13/18 tumores, con resección completa en 6 (uno con margen libre y cinco con margen microscópicamente comprometido); 10/13 tuvieron recaída local. Once pacientes con 13 tumores recibieron tratamiento con metotrexato/vinblastina. La tasa de respuesta a la quimioterapia fue del 54% y de hasta el 81% si se incluyen los casos que lograron enfermedad estable. La mejor respuesta fue remisión parcial. Solo 2 tuvieron toxicidad grado 4. Doce de 15 pacientes tuvieron secuelas. En 8 casos, las secuelas estuvieron directamente relacionadas con la intervención quirúrgica y 3 de ellas fueron graves. La sobrevida libre de progresión a 5 años y la supervivencia global fueron del 30% y del 93.3%, respectivamente. La FD tiene una alta tasa de recaída local, independientemente del margen quirúrgico. Dosis bajas de quimioterapia lograron una enfermedad estable e incluso la remisión de las lesiones, con baja toxicidad. La alta tasa de secuelas probablemente esté relacionada con la cirugía inicial realizada en la mayoría de los pacientes y podría evitarse mediante el uso de quimioterapia neoadyuvante en dosis bajas, como sugieren las estrategias actuales de tratamiento.
Subject(s)
Humans , Child , Gaucher Disease/diagnosis , Methotrexate , Retrospective Studies , Follow-Up Studies , Fibromatosis, Aggressive/surgery , Fibromatosis, Aggressive/drug therapy , Neoplasm Recurrence, LocalABSTRACT
Objective@#To compare the characteristics of MRI signals in different therapeutic effect of desmoid-type fibromatosis (DF).@*Methods@#One hundred and twenty-four DF patients with pathologically proven postoperative recurrent lesions from Peking University Cancer Hospital from 2008 to 2015 were enrolled in the study. All patients had baseline MRI scans, followed by once MRI scan at least every six months, and the follow-up period was three years. All patients had MRI images at the end of the third year. The therapeutic effect was evaluated by response evaluation criteria in solid tumors (RECIST) criteria, and the patients were divided into three groups: progressive disease (PD), stable disease (SD) and partial response (PR). Differences in features in the PD, SD, and PR groups were compared using one-way analysis of variance, Kruskal-Wallis, or Chi-square test. Multiple comparisons were performed using Bonferroni to correct P values. The spearman correlation coefficient was used to test the correlation between signal score and tumor maximum diameter.@*Results@#Among the 124 patients, 17 experienced PD, 37 exhibited SD and 70 exhibited PR. There were no significant differences in age, gender distribution and the location of lesion among three groups (P>0.05). The difference of treatment strategies was statistically significant (P<0.05). The difference of tumor maximum diameter of baseline and the last follow-up MRI scan was also statistically significant between three groups (P<0.05). There was no significant differences in T2 scores and enhancement scores of baseline MRI scan among the PD, SD, and PR groups (P>0.05). At the last follow-up MRI scan, the T2 signal scores, the changes of T2 signal, the scores of enhancement and the changes of enhancement of the PD, SD, and PR groups were significantly different among three groups (P<0.05). At the last follow-up MRI scan, the tumor maximum diameter was positively correlated with the score of T2 signal (r=0.434, P<0.01), and the tumor maximum diameter was positively correlated with the score of enhancement (r=0.743, P<0.01).@*Conclusion@#MRI has great value in evaluating the therapeutic effect of DF.
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Objective: To evaluate the long-term effectiveness of patients received surgical treatment under the guidance of "West China Classification" of desmoid-type fibromatosis (DTF) in the shoulder girdle. Methods: The clinical data of 32 patients with 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. Results: 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 ( P0.05). The lifting ability score in group C was significantly lower than in group A ( P0.05). 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 ( P0.05). Conclusion: 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.
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Desmoid-type fibromatosis (DF) is a rare monoclonal fibroblastic proliferation that is characterized by locally infiltrative but rarely metastatic lesions. Tyrosine kinase and γ-secretase inhibitors are primarily used in the targeted therapy of DF. The use of these drugs, however, is mainly based on the recommendations of retrospective studies with small sample sizes. Previous studies that focused on the mechanism, efficacy, and safety of targeted therapy for DF were reviewed to provide references for clinical applications and research. The efficacy and safety of targeted therapy were compared with those of other systemic therapy options. Targeted therapy does not provide considerable advantages in efficacy and safety over other medical treatments and is usually applied after the failure of antihormonal therapies, nonsteroidal anti-inflammatory drugs, and chemotherapy. Further studies are required to explore the mechanism, indications, and appropriate drug dosage of the targeted therapy of DF.
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Purpose To explore the clinicopathologic fea-tures, diagnosis and differential diagnosis of desmoid-type fibro-matosis (DTF). Methods The clinicopathological data of 55 cases of DTF were retrospectively analyzed and followed up. Re-sults Among 55 cases of DTF, 18 cases were male and 37 cases were female. Median age was 33 years old (range from 6-71). 19 cases were occurred in abdominal wall, 23 cases were extra-abdomen, 13 cases in intra-abdomen and mesentery. DTF was composed of proliferating spindle fibroblasts and a number of collagen fibers. The cell showed no obvious atypia and the mitot-ic figures were rare. Immunohistochemical results showed posi-tive expression of vimentin, partial expression of SMA, desmin. The positive expression of β-catenin was located in nucleus of DTF cells. CD34, CD117, DOG1, S-100 were negatively ex-pressed. Ki-67 proliferation index was low. The effect of surgical resection was good for DTF. After 2-82 months follow-up, 17 ca-ses recurred and the remainders were disease-free survival. Con-clusion DTF is a rare intermediate tumor of soft tissue with no specificity of clinical and imaging features, which should be dif-ferentiated with a variety of benign and malignant diseases. The nuclear expression of β-catenin acts an important role in diagno-sis and differential diagnosis of DTF.
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Desmoid type fibromatosis is a benign fibroblastic tumor arising from the fascia or musculoaponeurosis. It may occur in various locations, but most commonly in the shoulder girdle and neck; to our knowledge, there has been no reported case originating from a facet joint of the spine. We report CT and MR imaging findings of a desmoid type fibromatosis, involving the facet joint of the L3-4 spine with bone involvement.
Subject(s)
Adult , Humans , Male , Biopsy , Fibromatosis, Aggressive/diagnosis , Lumbar Vertebrae , Magnetic Resonance Imaging , Spinal Neoplasms/diagnosis , Zygapophyseal JointABSTRACT
Desmoid-type fibromatosis is an uncommon and aggressive neoplasia, associated with a high rate of recurrence. It is characterized by an infiltrative but benign fibroblastic proliferation occurring within the deep soft tissues. There is no consensus about the treatment of those tumors. We present a surgical series of four cases, involving the brachial plexus (two cases), the median nerve and the medial brachial cutaneous nerve. Except for the last case, they were submitted to multiple surgical procedures and showed repeated recurrences. The diagnosis, the different ways of treatment and the prognosis of these tumoral lesions are discussed. Our results support the indication of radical surgery followed by radiotherapy as probably one of the best ways to treat those controversial lesions.
A fibromatose do tipo desmoide é uma lesão tumoral agressiva e rara, associada a alto índice de recorrência. É caracterizada pela fibroblástica infiltrativa, porém benigna, que ocorre no interior de tecidos moles profundos. Não existe consenso com relação ao tratamento desses tumores. Apresentamos uma série cirúrgica de quatro casos comprometendo o plexo braquial (dois casos), o nervo mediano e o nervo cutâneo medial do braço. Com exceção do último caso, todos foram submetidos a múltiplos procedimentos cirúrgicos e apresentaram recorrências repetidas. São discutidos o diagnóstico, as diferentes formas de tratamento e o prognóstico dessas lesões tumorais. Nossos resultados apoiam o conceito de que cirurgia radical seguida por radioterapia é uma das melhores formas de se tratar essas controvertidas lesões.