Extra-abdominal Desmoid Tumor Mimicking Cervical Spine Schwannoma

Here, we describe a case where an extra-abdominal DT mimicked a schwannoma in the posterior cervical spine. A 67-year-old female patient presented with acute neck and bilateral shoulder pain. After attempting conservative treatments with no symptomatic relief, a magnetic resonance imaging of the cervical spine was obtained, showing a paraspinal mass in the posterior elements from C2 to C4. The computed tomography guided needle biopsy showed rare spindle cells, suggestive of a spindle cell neoplasm, and complete surgical resection was performed. The pathology report was consistent with fibromatosis, leading to a final diagnosis of the extra-abdominal desmoid. This case demonstrates a rare presentation of an unusual tumor that often manifests with nonspecific symptoms or no symptoms at all.

In this study, the authors introduce the association of an occult neuromuscular choristoma (NMC) identified in patients with DTF. The authors performed a retrospective database review of all other cases of biopsy-proven DTF involving the extremities or limb girdles in patients with available MRI data. Two musculoskeletal radiologists with expertise in peripheral nerve imaging reviewed the MRI studies of the eligible cases for evidence of previously unrecognized NMC. The database review yielded 40 patients with DTF-18 (45%) in the upper limb and 22 (55%) in the lower limb. Two cases (5%) had MRI findings of NMC associated with the DTF, one in the proximal sciatic nerve and the other in the proximal tibial and sural nerves. The coexistence of NMC may be under-recognized in a subset of patients with extremity DTF. This finding poses implications for DTF treatment and the likelihood of recurrence after resection or biopsy. Further study may reveal crucial links between the pathogenesis of NMC and DTF and offer novel therapeutic strategies.

This study aimed to examine the specific health-related quality of life challenges faced by DF (Desmoid Fibromatosis) patients, current experiences and expectations of care. Twenty-seven DF patients were purposively sampled from The Royal Marsden Hospital. Discussions revealed four key themes (diagnostic pathway; treatment pathway; living with DF; supportive care). Diagnostic delay resulted from lack of recognition by patients and healthcare professionals. Treatment decisions were challenging, and patients experienced uncertainty among clinicians about optimal therapies. Side-effects of treatment were severe, including fatigue, nausea, anorexia, low libido and depression. Pain was the most debilitating symptom and dependency on painkillers was a significant concern. Functional limitation and restricted mobility frequently affected daily activities. Patients experienced difficulty accomplishing their role in society; relationship problems, caring for children, employment and financial difficulties. Social isolation and lack of understanding were common. The psychological impact of this “life-changing and life-long” condition was profound. All patients requested knowledgeable healthcare professionals, more information, continuity of care and peer support. DF patients face complex physical, psychological and practical challenges. Comprehensive care services are needed. Increasing awareness may help to improve diagnostic pathways and overall patient experience.

We report the case of a patient with a shoulder desmoid tumor for which monitoring of tumor progression was the sole therapeutic strategy. Analgesia took the form of patient-controlled infusion of local anesthetics through an interscalene catheter. Due to the need of an MRI control 45 days later, the pump was stopped. The persistence of pain relief 48 hours later led to the decision to remove the perineural catheter. No pain was reported by the patient over the following 42 days. In this patient, it would seem that continuous analgesia allowed for a sustained resolution of pain from the shoulder-located tumor. One hypothesis is that local anesthetics play a direct role in the erasure of pain memory. This hypothesis needs to be tested with a large patient cohort.

To provide a review of those diverse tumors that can involve the pleura other than mesothelioma in order to facilitate their accurate diagnosis. Review of relevant literature published via PubMed and other search engines. A wide variety of tumors can involve the pleura. In most cases, the approach of considering the morphologic features with appropriate immunohistochemistry, in the correct clinical context, allows for a confident diagnosis. For a number of those soft tissue tumors that are well recognized in the pleura, such as solitary fibrous tumor, desmoid-type fibromatosis, synovial sarcoma, and epithelioid hemangioendothelioma, novel markers now exist based on an understanding of the individual tumorsÂ’ molecular characteristics.

A wait and see approach for desmoid tumors (DT) has become part of the routine treatment strategy. However, predictive factors to select the risk of progressive disease are still lacking. A translational project was run in order to identify genomic signatures in patients enrolled within an Italian prospective observational study. Among 12 DT patients (ten CTNNB1-mutated and two WT) enrolled from our Institution only two patients (17%) showed a progressive disease. Tumor biopsies were collected for whole exome sequencing. Overall, DT exhibited low somatic sequence mutation rate and no additional recurrent mutation was found. In the two WT cases, two novel alterations were detected: a complex deletion of APC and a pathogenic mutation of LAMTOR2. In conclusion, a minority of DT is WT for either CTNNB1, APC or any other gene involved in the WNT pathway. In this subgroup novel and hard to be detected molecular alterations in APC and CTNNB1 were discovered, contributing to explain a portion of the allegedly WT DT cases.