Postoperative Development of Desmoid Tumor Following Surgical Correction of Adult Spinal Deformity: Case Report and Review of the Literature

Since 1961, only 6 cases of postoperative paraspinal desmoid tumor have been reported. This report is the first to describe the occurrence of a paraspinal desmoid tumor after the surgical correction of a spinal deformity. A 56-year-old woman with multiple sclerosis reported 2-3 years of progressively worsening mid- and low-back pain that was worse with standing and ambulation and almost completely relieved with lying flat. Standing anteroposterior scoliosis radiographs revealed a thoracolumbar spinal deformity which was surgically corrected with a T4- pelvis spinal fixation and fusion. At her 2-year postoperative clinic visit the patient reported good improvement in her preoperative symptoms but felt a fullness in her right upper back and neck that was non-tender. An MRI revealed a large tumor in this region. The tumor was resected en bloc and pathology noted a 14.5 cm x 8.7 cm x 4.2 cm mass with spindle cell proliferation and positive staining for beta-catenin (mutated gene found in 85% of desmoid tumors). This is the first report of postoperative desmoid tumor following spinal deformity correction and the 7th reported case in the spine literature. All reported cases have been women aged 39-57 years. The patient will be followed closely with MRI given the known high local recurrence rate of this tumor.

We present a case of a 32-year-old woman who had been diagnosed with an intra-abdominal mass during fetal assessment ultrasound performed at 25 weeks of gestation. Considering characteristics of the mass, the first diagnostic presumption was that of 2 fibroids. At 31 weeks of gestation she was admitted to the hospital with complaints of shortness of breath, abdominal pressure and difficulties to lie on a back. On examination a significant growth of the intra-abdominal mass with signs of necrosis was observed. Following this, due to worsening mother state and a vast increase of inflammatory markers, planned Caesarean section at 32 weeks of gestation was performed. Following the delivery of a live neonate intraoperative evaluation of intra-abdominal mass by multidisciplinary team of surgeons was performed, no connection with uterus and adnexa were observed and decision was made not to intervene. After performing postoperative computed tomography scan gastrointestinal stromal tumour was suspected, inflammatory markers continued to grow and was decided to resect a tumour. However, postoperative histological examination revealed an intra-abdominal desmoid tumour.

Desmoid tumors (DTs) are rare tumors that originate from myofibroblastic tissue. Recently, initial wait and see was recommended (ESMO guidelines Ann Oncol 2017) in the most frequent locations. This study investigates the outcome of breast desmoid tumor (BDT) according to the initial strategy. Data from all consecutive patients treated from a BDT in four referral centers were collected. Only intra-mammary desmoid tumors were included. A pathological review and a molecular analysis (CTNNB1 gene mutation) were performed (National re-reading network of sarcomas-RRePS). Patients were grouped according to initial strategy: surgery group (SG) and active surveillance group (ASG). A total of 63 patients (61 women, 2 men) met the inclusion criteria. Median age was 50 years (16-86). CTNNB1 mutation was found in 61% (n?=?36). SG included 46 patients (73%) (41 partial mastectomies, 2 mastectomies, and 3 mastectomies associated to parietectomies). Surgical margins were positive in 15 patients (33.3%). Median follow-up of SG was 24.9 (0.5-209) months; and 4 patients (8.7%) developed recurrence. ASG included 17 patients (27%). Their median follow-up was 42.2 (0-214) months, and 15 patients (88.2%) did not require any additional treatment. Six patients (35%) had a spontaneous regression, 9 patients (52%) were stable, and 2 patients presented a significant progression that was treated by partial mastectomy. This study supports an initial nonsurgical approach to BDTs followed by surgery based on tumor growth in select cases, which is consistent with current ESMO recommendations.

The fascial system is a continuum of connective tissues present everywhere throughout the body that can be locally involved in a large variety of disorders. These disorders include traumatic disorders (Morel-Lavallee lesion, myo-aponeurotic injuries, and muscle hernia), septic diseases (necrotizing and non-necrotizing cellulitis and fasciitis), and neoplastic diseases (superficial fibromatosis, desmoid tumors, and sarcomas). The current pictorial review aims to focus on these localized disorders involving the fasciae of the musculoskeletal system and their appearance at MRI.

Desmoid tumors (DTs) are rare and understudied fibroblastic lesions that are frequently recurrent and locally invasive. DT patients often experience chronic pain, organ dysfunction, decrease in quality of life, and even death. Sorafenib has emerged as a promising therapeutic strategy, which has led to the first randomized phase 3 clinical trial devoted to DTs. Concurrently, we conducted a comprehensive analysis of sorafenib efficacy in a large panel of desmoid cell strains to probe for response mechanism. We found distinctive groups of higher- and lower-responder cells. Clustering the lower-responder group, we observed that CTNNB1 mutation was determinant of outcome. Our results revealed that a lower dose of sorafenib was able to inhibit cell viability, migration, and invasion of wild-type and T41A-mutated DTs. Apoptosis induction was observed in those cells after treatment with sorafenib. On the other hand, the lower dose of sorafenib was not able to inhibit cell viability, migration, or invasion or to induce apoptosis in the S45F-mutated DTs. The investigation of autophagy showed the dependency of S45F-mutated DTs on this pathway as a part of cell survival mechanism. Significantly, when autophagy was inhibited genetically or pharmacologically in the S45F mutant cell strains, sensitivity to sorafenib was restored. Our findings suggest that the response to sorafenib differs when comparing S45F-mutated DTs and T41A-mutated or wild-type DTs. Furthermore, the combination of hydroxychloroquine and sorafenib enhances the antiproliferative and proapoptotic effects in S45F-mutated DT cells, suggesting that profiling beta-catenin status could guide clinical management of desmoid patients who are considering sorafenib treatment.

This Editorial highlights current developments and new paradigms in the management of desmoid tumor (DT) patients as developed by the Desmoid Tumor Working Group. The article “Autophagy Inhibition Overcomes Sorafenib Resistance in S45F?Mutated Desmoid Tumors” is put into perspective regarding a new emerging drug, sorafenib, which is proven to be active in DT in a recent phase 3 trial.