Tibial intraneural ganglion cysts at the superior tibiofibular joint treated with joint resection alone: a proof of concept.

BACKGROUND: Intraneural ganglion cysts involving the tibial nerve are rare. Recent evidence has supported an articular (synovial) theory to explain the joint-related origin of these cysts; however, optimal operative treatment for cysts originating from the STFJ remains poorly understood. Therefore, we present a novel strategy: addressing the joint itself without addressing the articular branch and/or the cyst. METHODS: Records of patients with tibial intraneural ganglion cysts with a connection to the STFJ who were treated with a joint resection alone at a single academic institution were reviewed. The clinicoradiographic features, operative intervention, and postoperative course were recorded. RESULTS: We identified a consecutive series of 7 patients. These patients (4/7 male, 57%) were 43 (range 34-61) years of age and all presented with symptoms of neuropathy. The patients underwent resection of the synovial surfaces of the STFJ without disconnection of the articular branch or decompression of the cyst. Postoperatively, three patients regained partial motor function (43%, n=7), although four patients noted continued sensory abnormality (57%, 4/7). All six patients with postoperative MRIs had some evidence of regression of the cyst. CONCLUSIONS: This novel surgical technique serves as a proof of concept-highlighting the fact that treating the primary source (the joint origin) can be effective in eliminating the secondary problem (the cyst itself). While this study shows that this simplified approach can be employed in select cases, we believe that superior results (faster, fuller recovery) can be achieved with combinations of disconnecting the articular branch, decompressing the cyst, and/or resecting the joint.

Percutaneous image-guided biopsy in malignant peripheral nerve sheath tumors.

BACKGROUND: The decision to biopsy a peripheral nerve tumor is largely based on its presumed behavior and prognosis, determined by patient history, clinical exam, and radiologic characteristics. Percutaneous image-guided biopsy is not without risk in patients with malignant peripheral nerve sheath tumors (MPNSTs); in particular, there may be concern regarding worsening neurologic function, increasing neuropathic pain, and incorrect or absent diagnosis. METHODS: Following approval by our institutional review board, we reviewed records from 1990 to 2019 at our institution's three main sites ("our institution"). Patients with pathology-proven MPNST were selected. Further inclusion criteria included image-guided percutaneous biopsy performed at our institution, pathology report available for review, and follow-up documentation to determine post-biopsy complications. RESULTS: Three hundred thirty-one patients with MPNST were reviewed. In total, 73 patients undergoing image-guided percutaneous biopsies were included. Twenty-two (30.1%) had biopsy-related complications. This included ten patients with misdiagnosis (13.7%) and six patients with non-diagnostic biopsies (8.2%). Six patients had new or worsened pain that resolved with time and neuropathic pain medication (8.2%), and one patient had subjectively worsened proximal weakness (1.3%) which resolved. CONCLUSION: We found nearly a third of patients undergoing biopsy had a biopsy-related complication. The single largest complication was the inability to obtain an accurate diagnosis (21.9%) with the first biopsy. This may lead to the need for repeat percutaneous or open biopsies, or a non-oncologic initial surgery with implications for disease-free and overall survival. Neurologic complications including exacerbation of pain or a deficit were rare and transient. It remains important that clinicians balance the potential risks and benefits based on individual patient characteristics when determining the necessity of an image-guided percutaneous biopsy.

PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth.

Lipomatosis of nerve is a rare malformation characterized by a fibrolipomatous proliferation within peripheral nerve. Lipomatosis of nerve most frequently involves the median nerve, and manifests clinically as a compressive neuropathy. However, 30-60% of cases are associated with tissue overgrowth within the affected nerve's territory (e.g., macrodactyly for lipomatosis of nerve in the distal median nerve). Somatic activating PIK3CA mutations have been identified in peripheral nerve from patients with lipomatosis of nerve with type I macrodactyly, which is now classified as a PIK3CA-related overgrowth spectrum disorder. However, the PIK3CA mutation status of histologically confirmed lipomatosis of nerve, including cases involving proximal nerves, and cases without territory overgrowth, has not been determined. Fourteen histologically confirmed cases of lipomatosis of nerve involving the median (N = 6), brachial plexus (N = 1), ulnar (N = 3), plantar (N = 2), sciatic and superficial peroneal nerves (N = 1 each) were included. Ten cases had nerve territory overgrowth, ranging from macrodactyly to hemihypertrophy; and four cases had no territory overgrowth. Exome sequencing revealed "hotspot" activating PIK3CA missense mutations in 6/7 cases. Droplet digital polymerase chain reaction for the five most common PIK3CA mutations (p.H1047R, p.H1047L, p.E545K, p.E542K, and p.C420R) confirmed the exome results and identified an additional six cases with mutations (12/14 total). PIK3CA mutations were found in 8/10 cases with territory overgrowth (N = 7 p.H1047R and N = 1 p.E545K), including two proximal nerve cases with extremity overgrowth, and 4/4 cases without territory overgrowth (p.H1047R and p.H1047L, N = 2 each). The variant allele frequency of PIK3CA mutations (6-32%) did not correlate with the overgrowth phenotype. Three intraneural lipomas had no detected PIK3CA mutations. As PIK3CA mutations are frequent events in lipomatosis of nerve, irrespective of anatomic site or territory overgrowth, we propose that all phenotypic variants of this entity be classified within the PIK3CA-related overgrowth spectrum and termed "PIK3CA-related lipomatosis of nerve".

Quantitative Musculoskeletal Tumor Imaging.

The role of quantitative magnetic resonance imaging (MRI) and positron emission tomography/computed tomography (PET/CT) techniques continues to grow and evolve in the evaluation of musculoskeletal tumors. In this review we discuss the MRI quantitative techniques of volumetric measurement, chemical shift imaging, diffusion-weighted imaging, elastography, spectroscopy, and dynamic contrast enhancement. We also review quantitative PET techniques in the evaluation of musculoskeletal tumors, as well as virtual surgical planning and three-dimensional printing.

Neuromuscular choristoma-associated desmoid-type fibromatosis: Establishing a nerve territory concept.

INTRODUCTION: Desmoid-type fibromatosis (DTF) frequently arises in patients with neuromuscular choristoma (NMC). We hypothesize that NMC-associated DTF occurs in soft tissues innervated by the NMC-affected nerve, and arises from CTNNB1-mutated (myo) fibroblasts within or directly adjacent to the NMC. MATERIALS AND METHODS: A retrospective review of patients treated at our institution was performed for patients with biopsy-confirmed diagnosis of NMC-DTF. Clinical presentation, physical examination, electrodiagnostic findings and radiological features (MR and FDG PET/CT images for each NMC-DTF) and pathologic re-review of available materials were analyzed. A literature review was also performed. RESULTS: Eight patients from our institution met the inclusion criteria. All patients presented with neuropathic symptoms and soft tissue or bone changes in the nerve territory innervated by the NMC. All MR images (N=8 cases) showed the characteristic features of NMC, and also showed direct contact between unifocal (N=5) or multifocal (N=3) DTF(s) and the NMC-affected nerve NMC. FDG PET/CT (N=2 cases) showed diffuse, increased FDG uptake along the entire affected nerve segment, contiguous with the FDG-avid DTF. In all cases, the DTFs arose in the soft tissues of the NMC-affected nerve's territory. No patient developed DTF at any other anatomic site. CONCLUSIONS: These data demonstrate that NMC-DTF arises solely within the NMC-affected nerve territory, and has direct contact with the NMC itself. Based on all these findings and the multifocality of NMC in several cases, we recommend imaging and surveillance of the entire NMC-affected nerve (from spine to distal extremity) to identify clinically-occult DTF in patients with NMC.

Nomenclature of Subchondral Nonneoplastic Bone Lesions.

OBJECTIVE. The purpose of this article is to summarize the nomenclature of nonneoplastic conditions affecting subchondral bone through a review of the medical literature and expert opinion of the Society of Skeletal Radiology Subchondral Bone Nomenclature Committee. CONCLUSION. This consensus statement summarizes current understanding of the pathophysiologic characteristics and imaging findings of subchondral nonneoplastic bone lesions and proposes nomenclature to improve effective communication across clinical specialties and help avoid diagnostic errors that could affect patient care.

Intra-articular pathology associated with isolated posterior cruciate ligament injury on MRI.

OBJECTIVE: Unlike with anterior cruciate ligament injury, little is known about the prevalence of intra-articular pathology associated with isolated posterior cruciate ligament (PCL) injury in the knee. The objectives of this study were to characterize and identify the frequency of meniscal tears and osteochondral injuries in these patients, and to see if management might be affected. MATERIALS AND METHODS: Altogether, 48 knee MRI exams with isolated PCL tears were evaluated for the presence of: grade and location of PCL tear, meniscal tear, articular chondral lesion, bone bruise, and fracture. Comparisons between PCL tear grade and location, as well as mechanism of injury when known, with the presence of various intra-articular pathologies, were made using the chi-square or Fisher's exact test as appropriate. RESULTS: In all, 69 % of isolated PCL tears occur in the midsubstance, 27 % proximally. Meniscal tears were seen in 25 % of knees, involving all segments of both menisci, except for the anterior horn medial meniscus. Altogether, 23 % had focal cartilage lesions, usually affecting the central third medial femoral condyle and medial trochlea, while 12.5 % of knees had fractures, and 48 % demonstrated bone bruises, usually involving the central to anterior tibiofemoral joint. The presence of a fracture (p = 0.0123) and proximal location of PCL tear (p = 0.0016) were both associated with the hyperextension mechanism of injury. There were no statistically significant associations between PCL tear grade and presence of intra-articular abnormality. CONCLUSION: Potentially treatable meniscal tears and osteochondral injuries are relatively prevalent, and demonstrable on MRI in patients with isolated acute PCL injury of the knee.

Subparaneurial ganglion cysts of the fibular and tibial nerves: A new variant of intraneural ganglion cysts.

Over the last decade, the mechanism of formation of intraneural ganglion cysts has been established through a meticulous review of clinical findings and correlation with patterns produced on magnetic resonance imaging (MRI). Pathognomonic imaging patterns distinguish these rare lesions from the more common extraneural variants in almost all cases. In this report, we present a new pattern of cyst occurrence in the subparaneurial compartment of the nerve and provide potential anatomic explanations for its pathogenesis. Using an anatomic framework of connective tissue compartments of the nerve, we reviewed 63 (56 fibular and seven tibial) intraneural ganglion cysts in the knee region evaluated at our institution and all reports with MRI in the world's literature for evidence of cyst occurrence in the subparaneurial compartment. We identified six cases (five in the common fibular nerve and one in the tibial nerve) at our institution that had MR evidence of cyst in the subparaneurial compartment with a new complex lobulated pattern. All cases had articular branch connections to the superior tibiofibular joint, which at operation were resected along with the joints. Follow-up revealed complete recovery in all instances and no clinical or radiological signs of recurrence. Three cases out of 80 in the literature exhibited the new complex lobulated MRI pattern. We present a new pattern of intraneural ganglion cyst occurrence in a potential space that surrounds peripheral nerves--the subparaneurial compartment. We believe that the unifying articular theory applies to the pathogenesis and management of these rare variants.

Occult radiological effects of lipomatosis of the lumbosacral plexus.

OBJECTIVE: Lipomatosis of nerve (LN) is a condition of massive peripheral nerve enlargement frequently associated with hypertrophy within the distribution of the nerve, and most commonly affecting the distal limbs. We sought to understand if LN of the lumbosacral plexus would be associated with the trophic effects of LN on surrounding tissue within the pelvis, which may be clinically occult, but present on MRI. MATERIALS AND METHODS: Fifty-one cases of LN, confirmed by pathology or pathognomonic appearance on MRI, were reviewed. Patients with LN of the sciatic nerve were investigated for radiological signs suggestive of overgrowth. RESULTS: Five patients had involvement of the sciatic nerve, 4 of whom had MR imaging of the pelvis. Three patients had LN involving the lumbosacral plexus, and one patient had isolated involvement of the sciatic nerve. All patients with involvement of the lumbosacral plexus demonstrated previously unrecognized evidence of nerve territory overgrowth in the pelvis, including: LN, profound adipose proliferation, muscle atrophy and fatty infiltration, and bone hypertrophy and ankylosis. The patient with LN involving the intrapelvic sciatic nerve, but not the lumbosacral plexus did not demonstrate any radiological evidence of pelvic overgrowth. CONCLUSION: LN is broader in anatomical reach than previously understood. Proximal plexal innervation may be involved, with a consequent effect on axial skeleton and intrapelvic structures.

Neuromuscular choristoma of the sciatic nerve and lumbosacral plexus: an association with nerve-territory undergrowth in the pelvis affecting soft tissue and bone.

BACKGROUND: Neuromuscular choristomas (NMC) are rare congenital lesions with differentiated muscle found within peripheral nerves. Patients often present with progressive neuropathy, undergrowth of the affected limb, and limb length discrepancy. In the sciatic nerve (the most common location of NMC), this may lead to specific manifestations in the distal limb, including progressive neuropathy, a shortened atrophic limb and a cavus foot. We hypothesized that the presence of NMC of the sciatic nerve (proximal to the sciatic notch) extending to the lumbosacral plexus could lead to abnormalities in proximal nerve territories (i.e., nerve, muscle and bone) within the hemipelvis. METHODS: A retrospective review of all cases of sciatic nerve NMCs diagnosed at the Mayo Clinic was performed. RESULTS: Seven patients were identified with sciatic nerve NMCs extending proximal and distal to the sciatic notch. Four patients with NMCs had denervation of muscles within the pelvis and ipsilateral undergrowth of bone which resulted in three cases of hip dysplasia. To our knowledge, the finding of proximal nerve-territory soft tissue and bony undergrowth (including hip dysplasia) in patients with NMCs involving the sciatic nerve and lumbosacral plexus has not previously been recognized. CONCLUSION: This finding will aid in both the diagnosis of the disease and an understanding of associated conditions.

Neuromuscular choristoma and circumferential nerve territory desmoid-type fibromatosis: imaging findings supporting a nerve-driven mechanism.

OBJECTIVE: Neuromuscular choristoma (NMC) is a rare developmental malformation of peripheral nerve that is frequently associated with the development of a desmoid-type fibromatosis (DTF). Both NMC and NMC-DTF typically contain pathogenic CTNNB1 mutations and NMC-DTF develop only within the NMC-affected nerve territory. The authors aimed to determine if there is a nerve-driven mechanism involved in the formation of NMC-DTF from the underlying NMC-affected nerve. METHODS: Retrospective review was performed for patients evaluated in the authors' institution with a diagnosis of NMC-DTF in the sciatic nerve (or lumbosacral plexus). MRI and FDG PET/CT studies were reviewed to determine the specific relationship and configuration of NMC and DTF lesions along the sciatic nerve. RESULTS: Ten patients were identified with sciatic nerve NMC and NMC-DTF involving the lumbosacral plexus, sciatic nerve, or sciatic nerve branches. All primary NMC-DTF lesions were located in the sciatic nerve territory. Eight cases of NMC-DTF demonstrated circumferential encasement of the sciatic nerve, and one abutted the sciatic nerve. One patient had a primary DTF remote from the sciatic nerve, but subsequently developed multifocal DTF within the NMC nerve territory, including 2 satellite DTFs that circumferentially encased the parent nerve. Five patients had a total of 8 satellite DTFs, 4 of which abutted the parent nerve and 3 that circumferentially involved the parent nerve. CONCLUSIONS: Based on clinical and radiological data, a novel mechanism of NMC-DTF development from soft tissues innervated by NMC-affected nerve segments is proposed, reflecting their shared molecular genetic alteration. The authors believe the DTF develops outward from the NMC in a radial fashion or it arises in the NMC and wraps around it as it grows. In either scenario, NMC-DTF develops directly from the nerve, likely arising from (myo)fibroblasts within the stromal microenvironment of the NMC and grows outward into the surrounding soft tissues. Clinical implications for patient diagnosis and treatment are presented based on the proposed pathogenetic mechanism.

Neuromuscular choristoma-associated desmoid-type fibromatosis of the brachial plexus: Additional evidence to support a nerve-driven mechanism.

BACKGROUND: We have recently described circumferential nerve involvement of neuromuscular choristoma associated with desmoid-type fibromatosis (NMC-DTF) in cases involving the sciatic nerve, supporting a nerve-derived mechanism for the DTF. We wondered whether a similar growth pattern occurs in cases involving the brachial plexus (BP). METHODS: We reviewed all available magnetic resonance (MR) imaging in patients diagnosed at our institution with NMC or NMC-DTF of the BP. We also performed a literature search of patients with NMC or NMC-DTF of the BP. RESULTS: In our clinical records, four patients with NMC of the BP were identified, and three developed NMC-DTF. All three patients had MR imaging evidence of circumferential encasement of the BP. In the literature, we identified 15 cases of NMC of the BP, of which 12 had identified NMC-DTF. Four published cases included MR images, and only two were of sufficient quality for review. The single provided image in both cases demonstrated a similar pattern of circumferential encasement of the BP by the NMC-DTF. One additional case report was published without MR images but described circumferential involvement in the surgical findings. One unpublished case of NMC-DTF of the BP from an international radiology meeting also had this circumferential pattern pattern on MRI. CONCLUSIONS: The MRI findings of circumferential nerve involvement in patients with NMC-DTF of the BP are similar to our previously reported data in patients with NMC-DTF of the sciatic nerve, providing further imaging-based support of a nerve-driven mechanism. Clinical implications are presented based on the proposed pathogenetic mechanism.

The value of high-resolution imaging in an occult peroneal intraneural ganglion cyst: illustrative case.

BACKGROUND: Foot drop is a common complaint with a broad differential diagnosis making imaging a key part of the diagnostic workup. The authors present a patient with an occult peroneal intraneural ganglion cyst who underwent imaging with high-frequency ultrasound (US) and high-resolution magnetic resonance imaging (MRI) to highlight the role of such techniques in cases of peroneal neuropathy. OBSERVATIONS: Intraneural ganglion cysts are emerging as a common cause of common peroneal neuropathy. Imaging with US and MRI is a valuable tool used to illustrate the pertinent anatomy and identify the articular branch joint connection and cyst as part of the surgical planning and definitive management. LESSONS: Intraneural ganglion cysts can be small or nearly invisible and failure to appreciate the intraneural cyst can lead to symptom or cyst persistence or recurrence. High-resolution modalities can be useful in the diagnosis and surgical planning of difficult cases.

Malignant Peripheral Nerve Sheath Tumors Without Muscle Weakness at Presentation: An Analysis of an Underappreciated Combination.

OBJECTIVE: Patients with malignant peripheral nerve sheath tumors (MPNSTs) of major motor nerves typically present with muscle weakness and pain. We aimed to analyze and characterize patients with MPNSTs of major motor nerves but without muscle weakness at initial presentation. METHODS: We performed a retrospective search of MPNSTs in a major nerve evaluated and/or treated at our institution from 1994 to 2019. Patients with no muscle weakness and available magnetic resonance imaging were analyzed. Clinical materials and magnetic resonance imaging and positron emission tomography scans were reviewed for features of malignancy. This group of patients was compared with patients who presented with MPNSTs and muscle weakness. RESULTS: Of 26 patients with MPNSTs who presented with no muscle weakness, 21 (81%) had a positive family history for malignancy. Only 16 (62%) magnetic resonance imaging scans were highly suspicious for malignancy. All 7 available positron emission tomography scans were highly suspicious for malignancy. Patients who presented with muscle weakness (n = 36) were more likely to have paresthesias and a history of neurofibromatosis 1 or radiation to the MPNST location (P < 0.05). CONCLUSIONS: MPNSTs of major motor nerves without muscle weakness represent an underappreciated subset of cases that have potential treatment and outcome implications. These patients presented with fewer symptoms and had fewer risk factors than patients with muscle weakness. Positron emission tomography should be considered as an additional method to try to anticipate the diagnosis of an MPNST.

"Wrap-Around Sign" in Non-Hodgkin Lymphoma of the Spine: A Common yet Overlooked Imaging Feature?

BACKGROUND: Anecdotal cases of the so-called "wrap-around" appearance in non-Hodgkin lymphoma (NHL) of the spine exist in the medical literature. In this paper, we looked at the prevalence of this imaging feature in our institutional cases. MATERIALS AND METHODS: We screened our institutional database for biopsy-proven NHL. Our inclusion criteria were the histologically confirmed diagnosis of NHL involving any vertebra, available magnetic resonance imaging of the affected site, and a positive wrap-around sign. Exclusion criteria included lymphoma cases without the wrap-around sign and/or histology other than NHL. We subdivided the cases into 3 groups: 1) lymphoma wrapped around the vertebral body; 2) the posterior elements alone; or 3) both the vertebral body and posterior elements. RESULTS: Our search identified 147 cases of NHL in which a confirmatory biopsy at the primary tumor site was available. Of those, 23 cases fulfilled the inclusion criteria (16 men and 7 women with average age at diagnosis of 63.3 years), yielding prevalence of 15.6% in our series. Most commonly the lymphoma involved the vertebral body with or without some involvement of the posterior vertebral elements (n = 20, 86.9%), followed by posterior vertebral elements (n = 2, 8.7%). One remaining case (4.4%) had lymphoma involving the anterior vertebral body and posterior elements. CONCLUSIONS: Findings of our pilot study indicated that the wrap-around sign in cases of NHL could be helpful diagnostically. This sign may be frequently under-recognized, leading to potential for a diagnostic dilemma on imaging. Larger studies are necessary to obtain more precise information about the prevalence of the wrap-around sign.

Frequent CTNNB1 p.S45 Mutations and Aggressive Clinical Behavior in Neuromuscular Choristoma-Associated Fibromatosis.

BACKGROUND: Neuromuscular choristoma (NMC) is a peripheral nerve malformation frequently associated with a fibromatosis (NMC-DTF) that mimics sporadic desmoid-type fibromatosis (DTF). Sporadic DTF is often managed conservatively but its clinical behavior varies. CTNNB1 mutational subtypes in sporadic DTF have prognostic value. We have previously identified CTNNB1 mutations in NMC, and 3 paired NMC-DTF but the clinical behavior of NMC-DTF is poorly understood. OBJECTIVE: To evaluate patients with NMC-DTF to determine (1) CTNNB1 mutational subtypes in NMC-DTF, and (2) associated clinical behavior and response to treatment. METHODS: Retrospective review of clinical, imaging, and pathologic features of patients with NMC and NMC-DTF, and molecular testing for CTNNB1 mutations. RESULTS: Among 7 patients with NMC of the sciatic nerve (median age: 18 yr), NMC-DTF (mean size 10.7 cm) developed shortly following NMC biopsy (N = 5) or spontaneously (N = 2): 6 NMC-DTF had CTNNB1 p.S45X mutations and 1 NMC-DTF had a p.T41A mutation. All patients with CTNNB1-p.S45-mutated NMC-DTF developed local progression after wide local excision or active surveillance, including one distal metachronous NMC-DTF. No patient had spontaneous disease stabilization. Following adjuvant radiation or systemic therapy, disease stabilization was achieved in 4 (of 6) patients. One patient progressed on sorafenib treatment. CONCLUSION: NMC-DTF frequently contain CTNNB1 p.S45 mutations, behave aggressively, and require adjuvant therapies for disease stabilization. We now use imaging alone to diagnose NMC, and routinely surveille the NMC-affected nerve segment to identify early NMC-DTF. In contrast to sporadic DTF, earlier adoption of systemic therapeutic strategies may be required for optimal disease management of NMC-DTF.

Imaging of the Hand and Wrist.

Imaging plays a key role in the evaluation and treatment planning of hand and wrist injuries in athletes. Depending on the suspected injury, a combination of conventional radiographs, computed tomography, magnetic resonance imaging, magnetic resonance arthrography, and/or ultrasound may be indicated. This article reviews the strengths and limitations of these imaging modalities and how they can be utilized in commonly encountered clinical questions.