MR-guided focused ultrasound therapy of extra-abdominal desmoid tumors: a multicenter retrospective study of 105 patients.

OBJECTIVE: To assess the safety and efficacy of magnetic resonance-guided focused ultrasound (MRgFUS) for the treatment extra-abdominal desmoids. METHODS: A total of 105 patients with desmoid fibromatosis (79 females, 26 males; 35 ± 14 years) were treated with MRgFUS between 2011 and 2021 in three centers. Total and viable tumors were evaluated per patient at last follow-up after treatment. Response and progression-free survival (PFS) were assessed with (modified) response evaluation criteria in solid tumors (RECIST v.1.1 and mRECIST). Change in Numerical Rating Scale (NRS) pain and 36-item Short Form Health Survey (SF-36) scores were compared. Treatment-related adverse events were recorded. RESULTS: The median initial tumor volume was 114 mL (IQR 314 mL). After MRgFUS, median total and viable tumor volume decreased to 51 mL (95% CI: 30-71 mL, n = 101, p < 0.0001) and 29 mL (95% CI: 17-57 mL, n = 88, p < 0.0001), respectively, at last follow-up (median: 15 months, 95% CI: 11-20 months). Based on total tumor measurements (RECIST), 86% (95% CI: 75-93%) had at least stable disease or better at last follow-up, but 50% (95% CI: 38-62%) of remaining viable nodules (mRECIST) progressed within the tumor. Median PFS was reached at 17 and 13 months for total and viable tumors, respectively. NRS decreased from 6 (IQR 3) to 3 (IQR 4) (p < 0.001). SF-36 scores improved (physical health (41 (IQR 15) to 46 (IQR 12); p = 0.05, and mental health (49 (IQR 17) to 53 (IQR 9); p = 0.02)). Complications occurred in 36%, most commonly 1st/2nd degree skin burns. CONCLUSION: MRgFUS reduced tumor volume, reduced pain, and improved quality of life in this series of 105 patients with extra-abdominal desmoid fibromatosis. CLINICAL RELEVANCE STATEMENT: Imaging-guided ablation is being increasingly used as an alternative to surgery, radiation, and medical therapy for the treatment of desmoid fibromatosis. MR-guided high-intensity focused ultrasound is an incisionless ablation technique that can be used to reduce tumor burden effectively and safely. KEY POINTS: • Desmoid fibromatosis was treated with MR-guided high-intensity focused ultrasound in 105 patients. • MR-guided focused ultrasound ablation reduced tumor volume and pain and improved quality of life. • MR-guided focused ultrasound is a treatment option for patients with extra-abdominal desmoid tumors.

Evolving strategies for management of desmoid tumor.

Desmoid tumors (DTs) are rare soft tissue mesenchymal neoplasms that may be associated with impairments, disfigurement, morbidity, and (rarely) mortality. DT disease course can be unpredictable. Most DTs are sporadic, harboring somatic mutations in the gene that encodes for ß-catenin, whereas DTs occurring in patients with familial adenomatous polyposis have germline mutations in the APC gene, which encodes for a protein regulator of ß-catenin. Pathology review by an expert soft tissue pathologist is critical in making a diagnosis. Magnetic resonance imaging is preferred for most anatomic locations. Surgery, once the standard of care for initial treatment of DT, is associated with a significant risk of recurrence as well as avoidable morbidity because spontaneous regressions are known to occur without treatment. Consequently, active surveillance in conjunction with pain management is now recommended for most patients. Systemic medical treatment of DT has evolved beyond the use of hormone therapy, which is no longer routinely recommended. Current options for medical management include tyrosine kinase inhibitors as well as more conventional cytotoxic chemotherapy (e.g., anthracycline-based or methotrexate-based regimens). A newer class of agents, γ-secretase inhibitors, appears promising, including in patients who fail other therapies, but confirmation in Phase 3 trials is needed. In summary, DTs present challenges to physicians in diagnosis and prognosis, as well as in determining treatment initiation, type, duration, and sequence. Accordingly, evaluation by a multidisciplinary team with expertise in DT and patient-tailored management are essential. As management strategies continue to evolve, further studies will help clarify these issues and optimize outcomes for patients.

Whole-Genome and Transcriptome Sequencing Identified NOTCH2 and HES1 as Potential Markers of Response to Imatinib in Desmoid Tumor (Aggressive Fibromatosis): A Phase II Trial Study.

PURPOSE: Desmoid tumor, also known as aggressive fibromatosis, is well-characterized by abnormal Wnt/ß-catenin signaling. Various therapeutic options, including imatinib, are available to treat desmoid tumor. However, the molecular mechanism of why imatinib works remains unclear. Here, we describe potential roles of NOTCH2 and HES1 in clinical response to imatinib at genome and transcriptome levels. MATERIALS AND METHODS: We identified somatic mutations in coding and noncoding regions via whole-genome sequencing. To validate the genetic interaction with expression level in desmoid-tumor condition, we utilized large-scale whole-genome sequencing and transcriptome datasets from the Pan-Cancer Analysis of Whole Genomes project. RNA-sequencing was performed using prospective and retrospective cohort samples to evaluate the expressional relevance with clinical response. RESULTS: Among 20 patients, four (20%) had a partial response and 14 (66.7%) had stable disease, 11 of which continued for ≥ 1 year. With gene-wise functional analyses, we detected a significant correlation between recurrent NOTCH2 noncoding mutations and clinical response to imatinib. Based on Pan-Cancer Analysis of Whole Genomes data analyses, NOTCH2 mutations affect expression levels particularly in the presence of CTNNB1 missense mutations. By analyzing RNA-sequencing with additional desmoid tumor samples, we found that NOTCH2 expression was significantly correlated with HES1 expression. Interestingly, NOTCH2 had no statistical power to discriminate between responders and non-responders. Instead, HES1 was differentially expressed with statistical significance between responders and non-responders. CONCLUSION: Imatinib was effective and well tolerated for advanced desmoid tumor treatment. Our results show that HES1, regulated by NOTCH2, as an indicator of sensitivity to imatinib, and an important therapeutic consideration for desmoid tumor.

Ultrasonographic findings of desmoid fibromatosis / 中国医师杂志

Objective:To explore the ultrasonographic features of desmoid fibromatosis and provide evidence for clinical management.Methods:The ultrasonic images and clinical data of 22 cases of desmoid fibromatosis confirmed by pathology in the Union Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology from 2016 to 2021 were retrospectively analyzed. The location, size, shape, boundary, internal echo, posterior acoustic enhancement, relationship with surrounding tissues and blood flow of the lesion were evaluated.Results:The maximum diameter of lesions in 22 patients ranged from 0.8 cm to 11.3 cm (5.2±2.4)cm. (1) There were 17 cases of extra-abdominal shape: 10 cases of irregular shape, 4 cases of spindle shape, and 3 cases of oval shape. In 10 cases, the lesion boundary was not clear, and the lesion was infiltrated along the muscle, fascia or adipose tissue. Uneven hypoechogenicity was found in 11 cases, and strip or patchy strong echo was found in 4 cases. 5 cases with posterior echogenicity enhancement; color Doppler flow imaging (CDFI) blood flow classification: grade 0 in 2 cases, grade 1 in 7 cases, grade 2 in 7 cases, and grade 3 in 1 case. (2) Abdominal wall type in 5 cases: oval shape in 2 cases, spindle shape in 2 cases, irregular shape in 1 case; In 3 cases, the boundary was not clear and was infiltrative along the muscle. Inhomogeneous hypoecho was found in 4 cases. Posterior echogenicity was enhanced in 1 case. CDFI blood flow classification: grade 1 in 2 cases, grade 2 in 2 cases, grade 3 in 1 case.Conclusions:The sonograms of typical desmoid fibromatosis have certain features. Combined with the patient′s history and clinical manifestations, they can provide an important basis for the clinical management of the disease.

Percutaneous Microwave Ablation of Desmoid Fibromatosis.

OBJECTIVE: To demonstrate the feasibility of percutaneous microwave ablation in desmoid fibromatosis with respect to tumor volume control and improvement in the quality of life. MATERIALS AND METHODS: Twelve microwave ablations were performed in 9 patients with a histological diagnosis of desmoid fibromatosis between January 2010 and January 2019. The study population included 6 female and 3 male, with an age range of 21-76 years (mean = 46.6 years; standard deviation [SD] = 19.3 years). The mean major axis of the tumors was 10.9 cm (SD = 5.2 cm) and mean lesion volume was 212.7 cm³ (SD = 213 cm³). Their anatomical distribution was as follows: 3 lesions in the thigh, 2 in the gluteus, 2 in the leg and 2 in the periscapular region. We evaluated the reduction in tumor volume and improvement in the quality of life based on the Eastern Cooperative Oncology Group (ECOG) scale. RESULTS: An average tumor volume reduction of 70.4% (SD = 24.9) was achieved, while the quality of life (ECOG scale) improved in 88.9% of patients. CONCLUSION: Percutaneous microwave ablation may potentially be a safe, effective, and promising technique for controlling tumor volume and improving the quality of life in patients with desmoid fibromatosis.

Multimodal ultrasonic diagnosis of breast fibromatosis originating from breast parenchyma / 中国医师杂志

Objective:To analyze the imaging characteristics of invasive fibromatosis from breast parenchyma, and to explore the clinical value of multimodal ultrasound.Methods:The two-dimensional, color Doppler and elastic imaging sonographic manifestations and pathological features of 12 cases of breast invasive fibromatosis included in the Affiliated Hospital of Jining Medical College from October 2015 to October 2020 were studied retrospectively.Results:Two dimensional ultrasound showed that 12 cases of breast invasive fibromatosis grew in parallel, with different sizes, unclear boundary and no complete capsule. The edge morphology of 7 cases (7/12) showed crab foot like changes; The tumor showed solid heterogeneous hypoechoic, punctate hyperechoic in 3 cases (3/12), and echo attenuation behind the tumor in 3 cases (3/12); The blood flow in the tumor was mainly grade 1-2 (9/12). Twelve tumors were examined quantitatively by virtual touch tissue quantifification. The shear wave velocity was (3.08±0.75)m/s. The diagnostic accuracy of multimodal ultrasound in invasive fibromatosis of breast (10/12) was significantly higher than that of conventional ultrasound (3/12, χ 2=8.224, P=0.004). The gross manifestation of the tumor: the section was gray or gray yellow, with unclear boundary and no capsule; Microscopic findings: fascicular fibroblasts and myofibroblasts proliferated, accompanied by varying degrees of glassy degeneration, acellular atypia, nuclear division and necrosis. Conclusions:Conventional ultrasound is difficult to distinguish invasive fibromatosis and malignant tumor of breast, and its ultrasonic manifestations are closely related to pathological features. The combined application of multimodal ultrasound can significantly improve the diagnostic coincidence rate of the disease and has high clinical application value.

Active surveillance in desmoid-type fibromatosis: A systematic literature review.

BACKGROUND: This study evaluates the results of the active surveillance (AS) approach in adult patients with desmoid-type fibromatosis (DTF) because AS is advocated as a front-line approach for DTF in the European consensus guidelines. METHODS: A systematic literature search was conducted (December 19th, 2019, updated on April 14th, 2020). Studies describing the outcomes of the AS approach were included. The PRISMA guidelines were used. RESULTS: Twenty-five articles were included for data retrieval. Forty-two percent of reported patients (1480 of 3527 patients) received AS, the majority were women and the majority had a primary tumour. The median age at diagnosis ranged from 28 to 59 years. Common tumour sites were the extremities/girdles (n = 273), the abdominal wall (n = 253) and the trunk (n = 153). The median reported percentage of progressive disease, stable disease and partial response was 20% (interquartile range [IQR]: 13-35%), 59% (IQR: 37-69%) and 19% (IQR 3-23%), respectively. In 640 patients, the outcome was not specified. The median reported percentage of shifting to an active form of treatment was 29%, most commonly to systemic treatment (n = 195) and surgery (n = 107). The reported median follow-up time ranged between 8 and 73 months. The reported median time to progression and/or initiation of the subgroup shifting from AS to 'active' therapy ranged from 6.3 months to 19.7 months. CONCLUSION: The majority of patients undergoing AS have either stable disease or a partial response, and about one-third of patients shift to an active form of treatment. Selecting patients who will benefit from active surveillance upfront should be the priority of future studies.

Postoperative radiotherapy in primary resectable desmoid tumors of the neck: a case-control study.

PURPOSE: Desmoid tumors (DTs) are rare soft tissue tumors, which frequently recur after surgery. The optimal treatment approach is still controversial due to lack of randomized data. The purpose of the study was to review a relative large series of DTs of the neck with emphasis on the value of postoperative radiotherapy (RT). METHODS: A total of 68 patients with DTs of the neck region with or without postoperative RT between 1/2008 and 12/2017 were included. They were individually matched for factors including age, gender, tumor size and margin status with a cohort of patients who underwent operative without postoperative RT. The event-free survival (EFS) was compared in the two groups. RESULTS: For the study, 34 patients and 34 matched control subjects were identified. The two groups did not differ in terms of age (p = 0.810), gender (p = 0.328), tumor size (p = 0.803) and margin status (p = 0.799). Patients who received surgery plus RT had a significantly higher 3­year EFS than those who received surgery alone (74.6% vs. 13.3%, P < 0.001). Factors including postoperative RT and margin status were independent factors of EFS. The values of P were <0.001 and 0.003 and the hazard ratios (95% confidence interval) were 11.929 (4.732-30.072) and 0.299 (0.133-0.671), respectively. None of the patients treated with RT developed serious complications. CONCLUSIONS: According to our results, postoperative radiotherapy is an effective treatment in desmoid tumors of the neck. Multi-institutional and prospective studies are warranted to further validate our findings.

Mesenteric fibromatosis: report of 7 cases / 中华普通外科杂志

Objective To invastigate the etiology,diagnosis and treatment of mesenteric fibromatosis.Methods 7 cases of mesenteric fibromatosis was admitted into our hospital from Jan 2012 to Jan 2018.Reslut Among the 7 patients,there were 2 males and 5 females,with an average age of (40 + 16)years,4 cases had had a history of abdominal surgery and 1 case was of familial polyp,the symptoms of organ compression were the first manifestation in 4 cases,abdominal mass as the first manifestation in 2 cases.The lesions were located on small mesentery in 5 cases,on mesenteric membrane in one,and on mesorectal membrane in one.All 7 patients underwent extensive tumor resection and the margins were negative,one of the tumors was located at the level of the duodenum,invading the superior mesenteric vein and the transverse mesocolon.Immunohistochemistry results:[3-catenin (+)、Ki-67 (+),CD117 (-),CD34(-)in7 cases,SMA(+)in5 cases,Desmin (+) in4 cases,ER (+) in3 cases.Conclusion Most patients of mesenteric fibroma have a history of previous abdominal surgery,seconded by organ compression symptoms.β-catenin (+),Ki-67 (+) and CD117 (-),CD34 (-) contribute to pathological diagnosis,Surgery-based comprehensive treatment can achieve therapeutic effect.

Extra?abdominal desmoid?type fibromatosis: MR findings and related features of recurrence / 中华放射学杂志

Objective To explore the MR findings of extra?abdominal desmoid?type fibromatosis and the related features of recurrence. Methods MRI and clinical data of 36 cases of extra?abdominal desmoid?type fibromatosis proved by surgical pathology were retrospectively reviewed between March 2010 and October 2016.The ages of the cases ranged from 10 years to 68 years. 14 males and 22 females were included with sex ratio 1∶1.57.the courses of the disease were varied from 1 day to 8 years. The stage was based on Church′s method. 3 cases were only with plain scan and other 33 cases with contrast enhancement. Sagittal or coronal T1WI, STIR?T2WI, PdWI and contrast enhanced T1WI in horizontal, sagittal and coronal view were examined on MR siganl 1.5T or 3.0T of GE Company. Two groups were divided based on the recurrence or not after surgery. The clinical and MR features were analyzed between the two groups with χ2 test, t test or Spearman rank correlation analysis according to the data characteristics. Results Compared with signal intensity of muscle, 34 cases were isointense and 2 cases isointense with hypointense area on T1WI; 34 cases were hyperintense and 2 cases hyperintense with hypointense area on T2WI. On contrast enhanced imaging, 22 cases were markedly enhanced, 7 cases moderately enhanced and 4 cases mildly enhanced.15 cases was with recurrence and 21 cases without recurrence. Infiltration of surrounding tissue was shown in 14 cases(38.9%), 13 cases with recurrence and 1 cases without recurrence. Band sign was shown in all cases. Tentacle sign was shown in 18 cases (50.0%), 15 cases with recurrence and 3 cases without recurrence. Split fat sign was shown in 12 cases (33.3%) and all without recurrence. Fascial tail sign was shown in 15 cases (41.7%), 13 cases with recurrence and 2 cases without recurrence. Hypointense ring around the tumor was shown in 21 cases (58.3%), 2 cases with recurrence and 19 cases without recurrence. The P value of tentacle sign, split fat sign, hypointense ring around the tumor, fascial tail sign and infiltration of surrounding tissue was less than 0.05. Gender, location and the degree of contrast enhancement was without difference of statistical significance between the two groups. There was significant correlation of the recurrence rate with the courses and the stage of the disease(χ2=7.264 , r=0.994 , P<0.05). Conclusions Tentacle sign, fascial tail sign and infiltration of surrounding tissue were attributed to the estimate of recurrence of extra?abdominal desmoid?type fibromatosis, and Be features contributes to the diagnosis and therapy of extra?abdominal desmoid?type fibromatosis.

Large desmoid tumors in familial adenomatous polyposis: a successful outcome

Desmoid tumors develop from connective tissue, fasciae, and aponeuroses, and may occur in the context of familial adenomatous polyposis or may arise sporadically; also, they may be extra-abdominal, intra-abdominal, or located in the abdominal wall. These benign tumors have a great aggressiveness with a high rate of local recurrence. Familial adenomatous polyposis is an inherited condition with autosomal dominant transmission, and is characterized by the development of multiple colonic and rectal adenomatous polyps, as well as desmoid tumors. We present the case of a 54-year-old woman with germline APC gene mutation, who underwent a total colectomy, subsequently developing two large infiltrative solid intra-abdominal lesions consistent with desmoid tumors. Medical treatment with Cox-2 inhibitors was initiated without result. She was submitted to resection for intestinal obstruction, but developed local recurrence. The lesions were also unresponsive to tamoxifen, and chemotherapy was initiated with dacarbazine plus doxorubicin, switching to vinorelbine plus methotrexate, achieving a good response in all lesions after 12 months. The approach to these intra-abdominal lesions should be progressive, beginning with observation, then a medical approach with non-steroidal anti-inflammatory drugs or with an anti-hormonal agent. Afterwards, if progression is still evident, chemotherapy should be started. Surgery should be reserved for resistance to medical treatment, in palliative situations, or for extra-abdominal or abdominal wall desmoids tumors.

EXTRA-ABDOMINAL DESMOID TUMOR: ANALYSIS OF 23 CONSECUTIVE CASES IN A SINGLE INSTITUTION.

OBJECTIVE: Extra-abdominal desmoid tumor (EDT) is a rare condition, caused by proliferation of fibroblasts. Despite being a benign tumor, it is locally aggressive and has unpredictable clinical behavior. The objective of this study is to present the clinical outcomes of patients with EDT treated surgically between 1995 and 2016. METHODS: This is a retrospective series of 23 patients with histopathological diagnosis of EDT that underwent surgery at the orthopedic oncology service of our hospital. The information was obtained from the institute's clinical and pathology reports. RESULTS: A total of 223 medical records with histopathological reports were evaluated. Only 23 cases of EDT were included in the present study. The mean age was 22.5 years. Twelve (52.2%) patients had the tumor on the lower limbs, seven (30.4%) on the upper limbs and four (17.4%) cases were reported on the back. Five (21.7%) patients had tumors measuring less than 5 cm, while eighteen (78.3%) patients had tumors measuring more than 5 cm. All patients underwent surgery as the definitive treatment in our institute. Twelve (52.2%) cases presented negative margins (NM) and eleven (47.8%) cases had positive margins (PM). Local recurrence (LR) occurred in eleven (47.8%) patients. CONCLUSION: Impairment of the surgical margin was the only prognostic factor found for LR of EDT. Level of Evidence IV, Case Series.

OBJETIVO: O tumor desmoide extra-abdominal (TDE) é raro, formado por proliferação de fibroblastos. Apesar de ser um tumor benigno, é localmente agressivo e tem comportamento clínico imprevisível. O objetivo desta pesquisa é apresentar os resultados clínicos obtidos nos pacientes com TDE, tratados cirurgicamente entre 1995 e 2016. MÉTODOS: Trata-se de uma série retrospectiva de 23 pacientes com diagnóstico anatomopatológico de TDE, tratados cirurgicamente no serviço de oncologia ortopédica de nosso hospital. A informação foi obtida dos relatos clínicos e patológicos do instituto. RESULTADOS: Um total de 223 prontuários com relato anatomopatológico foi revisado. Apenas 23 casos de TDE foram incluídos no presente estudo. A média de idade foi de 22,5 anos. Doze (52,2%) casos se localizaram nos membros inferiores, sete (30,4%) casos nos membros superiores e quatro (17,4%) casos se localizaram no dorso. Cinco (21,7%) casos tinham tamanho < 5 cm e 18 (78,3%) casos tinham tamanho > 5 cm. Todos os pacientes receberam tratamento cirúrgico como terapia definitiva no instituto. Doze (52,2%) casos apresentaram margens livres (ML) e onze (47,8%) casos tinham margens comprometidas (MC). A recorrência local (RL) ocorreu em onze (47,8%) pacientes. CONCLUSÃO: O comprometimento da margem cirúrgica foi o único fator de prognóstico encontrado para a RL do TDE. Nível de Evidência IV, Série de Casos.

Extra-abdominal desmoid tumor: analysis of 23 consecutive cases in a single institution / Tumor desmoide extra-abdominal: análise de 23 casos consecutivos em uma única instituição

ABSTRACT Objective: Extra-abdominal desmoid tumor (EDT) is a rare condition, caused by proliferation of fibroblasts. Despite being a benign tumor, it is locally aggressive and has unpredictable clinical behavior. The objective of this study is to present the clinical outcomes of patients with EDT treated surgically between 1995 and 2016. Methods: This is a retrospective series of 23 patients with histopathological diagnosis of EDT that underwent surgery at the orthopedic oncology service of our hospital. The information was obtained from the institute's clinical and pathology reports. Results: A total of 223 medical records with histopathological reports were evaluated. Only 23 cases of EDT were included in the present study. The mean age was 22.5 years. Twelve (52.2%) patients had the tumor on the lower limbs, seven (30.4%) on the upper limbs and four (17.4%) cases were reported on the back. Five (21.7%) patients had tumors measuring less than 5 cm, while eighteen (78.3%) patients had tumors measuring more than 5 cm. All patients underwent surgery as the definitive treatment in our institute. Twelve (52.2%) cases presented negative margins (NM) and eleven (47.8%) cases had positive margins (PM). Local recurrence (LR) occurred in eleven (47.8%) patients. Conclusion: Impairment of the surgical margin was the only prognostic factor found for LR of EDT. Level of Evidence IV, Case Series.

RESUMO Objetivo: O tumor desmoide extra-abdominal (TDE) é raro, formado por proliferação de fibroblastos. Apesar de ser um tumor benigno, é localmente agressivo e tem comportamento clínico imprevisível. O objetivo desta pesquisa é apresentar os resultados clínicos obtidos nos pacientes com TDE, tratados cirurgicamente entre 1995 e 2016. Métodos: Trata-se de uma série retrospectiva de 23 pacientes com diagnóstico anatomopatológico de TDE, tratados cirurgicamente no serviço de oncologia ortopédica de nosso hospital. A informação foi obtida dos relatos clínicos e patológicos do instituto. Resultados: Um total de 223 prontuários com relato anatomopatológico foi revisado. Apenas 23 casos de TDE foram incluídos no presente estudo. A média de idade foi de 22,5 anos. Doze (52,2%) casos se localizaram nos membros inferiores, sete (30,4%) casos nos membros superiores e quatro (17,4%) casos se localizaram no dorso. Cinco (21,7%) casos tinham tamanho < 5 cm e 18 (78,3%) casos tinham tamanho > 5 cm. Todos os pacientes receberam tratamento cirúrgico como terapia definitiva no instituto. Doze (52,2%) casos apresentaram margens livres (ML) e onze (47,8%) casos tinham margens comprometidas (MC). A recorrência local (RL) ocorreu em onze (47,8%) pacientes. Conclusão: O comprometimento da margem cirúrgica foi o único fator de prognóstico encontrado para a RL do TDE. Nível de Evidência IV, Série de Casos.

[Excision of giant desmoid in the abdominal wall, method of abdominal wall reconstruction, and follow-up of long-termed effect].

Objective: To explore the ideal procedure of excision and repair for giant desmoid in the abdominal wall and long-termed follow-up results. Methods: Clinical and follow-up data of 24 patients with giant desmoid in the abdominal wall underwent radical removal and immediate abdominal wall reconstruction in Diagnostic and Therapeutic Center of Hernia and Abdominal Wall Diseases, First Affiliated Hospital of People's Liberation Army General Hospital from October 2006 to October 2016 were analyzed retrospectively. Twenty-one female patients with the mean age of 34.6 years and 3 male patients with the mean age of 42.6 years were recruited. The minimal diameter of these tumors was 15 cm, and the maximal diameter was from xiphoid bone to pubic symphysis. Results: All of desmoids were removed radically and proved by the rapid pathologic examination. The size of abdominal wall defect after desmoids removal were 483 (21 cm×23 cm) to 2 100 cm(2) (35 cm×60 cm), averaged 945 cm(2) (27 cm×35 cm). All of defects were repaired with compound synthetic prosthesis using bridging procedure. Twenty-one patients were recovered smoothly and got primary wound healing. Three patients had prosthesis infected during 1 month postoperatively and 1 patient recovered with conservative therapy, the other 2 patients underwent infected prosthesis removal at 2 weeks and 3 months postoperatively, respectively. Twenty-two patients were followed up with the period of 12 to 121 months and the median period was 63 months. No marginal neoplasm recurrence, incisional hernia, and abdominal wall bulge happened. Eight patients developped fresh desmoids in the abdominal cavity or in the back. Two patients died because of intestinal obstruction due to desmoid infiltration, and the other 6 patients still survived along with stable desmoids. Conclusions: Radical removal for patients with giant desmoid in the abdominal wall is an ideal therapeutic method, and compound synthetic patch can be used to repair huge abdominal wall defect, even the defect compromised all of abdominal wall. The long-termed follow-up results showed these procedures had not put bad influence on the quality of patients' life.

Tumor desmoide / Desmoid tumor

Introducción. El tumor desmoide grado I, es una patología rara, se consideraba la intervención quirúrgica como primera opción, pero su recidiva posquirúrgica tendía a obscurecer la evolución satisfactoria ya que este tipo de tumores tienden a comprometer planos cada vez más profundos, en algunos casos ha provocado la amputación de extremidades sin lograr éxito, generando un grave impacto psicológico en el paciente y su pronóstico. Caso clínico. Paciente masculino, a los 18 años de edad, presentó una masa en el tercio distal del brazo izquierdo, en Italia le realizan exéresis quirúrgica, la misma que reporta positivo para tumor desmoide, presentando varias recidivas años después, estudios histopatológicos reportan recidiva de tumor desmoide. Actualmente se encuentra en seguimiento con controles tomográficos. Discusión. El tumor desmoide carece de potencial metastásico, con un comportamiento local muy agresivo, las técnicas de imagen permiten realizar su diagnóstico diferencial de otros tumores que afectan los tejidos blandos, su diagnóstico definitivo es con biopsia y su estudio histopatológico. Nuestro paciente a los 18 años se le diagnostica de un tumor desmoide a nivel del brazo izquierdo, presentando por varias ocasiones recidivas posterior a varias exéresis de los mismos, cabe recalcar, que este tipo de tumor tiene una elevada tasa de recurrencia incluso después de una resección completa del tumor; por lo que la cirugía no está indicada como tratamiento de primera elección, indica el manejo expectante está indicado con la estrategia O-E (Observar-Esperar), cuando el paciente es referido al HECAM se decide mantener controles expectantes. Como lo recomienda las ultimas guías de tratmiento.

Introduction. Grade I desmoid tumor is an uncommon pathology where treatment was the surgery as first option, but its post-surgical recurrence tends to obscure satisfactory evolution due to these kinds of tumors have to compromise deep layers, and there are cases where patients needed amputation of their arms or legs without any success; therefore, it causes a huge psychological impact in the patients and their prognosis. Clinical case. An eighteen-year old male presented with a mass in the distal portion of the left arm. In Italy, he had a surgical resection, and the sample was positive for a desmoid tumor, presenting several recurrences years later. Histological studies reports recurrence of desmoid tumor. Is currently in follow-up with tomographic controls. Discussion. The desmoid tumor lacks metastatic potential, with a very aggressive local behavior, the imaging techniques allow its differential diagnosis of other tumors that affect the soft tissues, and its definitive diagnosis is with biopsy and its histopathological study. In summary, our eighteen-year old patient's diagnose was a desmoid tumor on his left arm, presenting several recurrences after several exeresis of the same, it should be emphasized that this type of tumor has a high rate of recurrence even after a complete tumor resection. Thus, surgery is not indicated as first-line of treatment, so it´s recommended expectant treatment based on the O-E strategy (Observe-Wait). When the patient was referred to Hospital de Especialidades Carlos Andrade Marin, the doctors decided to continue with observational management. As recommended by the latest treatment guidelines.

Large desmoid tumors in familial adenomatous polyposis: a successful outcome.

Desmoid tumors develop from connective tissue, fasciae, and aponeuroses, and may occur in the context of familial adenomatous polyposis or may arise sporadically; also, they may be extra-abdominal, intra-abdominal, or located in the abdominal wall. These benign tumors have a great aggressiveness with a high rate of local recurrence. Familial adenomatous polyposis is an inherited condition with autosomal dominant transmission, and is characterized by the development of multiple colonic and rectal adenomatous polyps, as well as desmoid tumors. We present the case of a 54-year-old woman with germline APC gene mutation, who underwent a total colectomy, subsequently developing two large infiltrative solid intra-abdominal lesions consistent with desmoid tumors. Medical treatment with Cox-2 inhibitors was initiated without result. She was submitted to resection for intestinal obstruction, but developed local recurrence. The lesions were also unresponsive to tamoxifen, and chemotherapy was initiated with dacarbazine plus doxorubicin, switching to vinorelbine plus methotrexate, achieving a good response in all lesions after 12 months. The approach to these intra-abdominal lesions should be progressive, beginning with observation, then a medical approach with non-steroidal anti-inflammatory drugs or with an anti-hormonal agent. Afterwards, if progression is still evident, chemotherapy should be started. Surgery should be reserved for resistance to medical treatment, in palliative situations, or for extra-abdominal or abdominal wall desmoids tumors.

Excision of giant desmoid in the abdominal wall, method of abdominal wall reconstruction, and follow-up of long-termed effect / 中华外科杂志

Objective@#To explore the ideal procedure of excision and repair for giant desmoid in the abdominal wall and long-termed follow-up results.@*Methods@#Clinical and follow-up data of 24 patients with giant desmoid in the abdominal wall underwent radical removal and immediate abdominal wall reconstruction in Diagnostic and Therapeutic Center of Hernia and Abdominal Wall Diseases, First Affiliated Hospital of People′s Liberation Army General Hospital from October 2006 to October 2016 were analyzed retrospectively. Twenty-one female patients with the mean age of 34.6 years and 3 male patients with the mean age of 42.6 years were recruited. The minimal diameter of these tumors was 15 cm, and the maximal diameter was from xiphoid bone to pubic symphysis.@*Results@#All of desmoids were removed radically and proved by the rapid pathologic examination. The size of abdominal wall defect after desmoids removal were 483 (21 cm×23 cm) to 2 100 cm2 (35 cm×60 cm), averaged 945 cm2 (27 cm×35 cm). All of defects were repaired with compound synthetic prosthesis using bridging procedure. Twenty-one patients were recovered smoothly and got primary wound healing. Three patients had prosthesis infected during 1 month postoperatively and 1 patient recovered with conservative therapy, the other 2 patients underwent infected prosthesis removal at 2 weeks and 3 months postoperatively, respectively. Twenty-two patients were followed up with the period of 12 to 121 months and the median period was 63 months. No marginal neoplasm recurrence, incisional hernia, and abdominal wall bulge happened. Eight patients developped fresh desmoids in the abdominal cavity or in the back. Two patients died because of intestinal obstruction due to desmoid infiltration, and the other 6 patients still survived along with stable desmoids.@*Conclusions@#Radical removal for patients with giant desmoid in the abdominal wall is an ideal therapeutic method, and compound synthetic patch can be used to repair huge abdominal wall defect, even the defect compromised all of abdominal wall. The long-termed follow-up results showed these procedures had not put bad influence on the quality of patients′ life.