Recurrent desmoid-type fibromatosis associated with underlying neuromuscular choristoma

Stone, Jonathan; Prasad, Nikhil K.; Laumonerie, Pierre; Howe, Benjamin M.; Amrami, Kimberly K.; Carter, Jodi M.; Jentoft, Mark E.; Spinner, Robert J.

doi:10.3171/2018.3.jns152935

Cited by 13 publications

(8 citation statements)

References 30 publications

(33 reference statements)

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“…In our study, most of the patients underwent consultation for recurrent DTF and were found to have an occult underlying NMC. We agree with the opinion that the coexistence of NMC may be underrecognized in patients with extremity DTF [ 23 ]. Based on our course review and follow-up, all patients who underwent surgery presented with progression to NMC-DTFs at the site of the NMCs, while no fibromatosis was detected in nonsurgical patients.…”

Section: Discussionsupporting

confidence: 88%

“…Based on our course review and follow-up, all patients who underwent surgery presented with progression to NMC-DTFs at the site of the NMCs, while no fibromatosis was detected in nonsurgical patients. Previous studies have suggested that the potential for fibromatosis occurring after surgery might lead to a “no touch” approach when NMC is suspected, which means that the diagnosis should be based solely on clinical and imaging criteria [ 1 , 23 , 24 ]. Although the natural history and true incidence of NMC and NMC-DTF remain unknown, our study favors the belief that for NMC patients, diagnosis is possible prior to biopsy or resection based on unique and characteristic ultrasound findings with consistent clinical findings.…”

Section: Discussionmentioning

confidence: 99%

“…In the subset of our tumor surgery group, all 5 patients presented with progression of NMC-DTFs at the site of the NMCs. Previous studies supported that the mainstay of treatment for NMC-associated DTF could be nonsurgical management including locoregional chemotherapy, exclusive radiation, systemic chemotherapy, and/or targeted therapy [ 23 , 26 ]. Further study may be needed to identify the best treatment of NMC-DTF.…”

Section: Discussionmentioning

confidence: 99%

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Clinical features and ultrasound findings of a rare musculoskeletal system disease–neuromuscular choristoma

Guo

Wang

Chen

et al. 2022

BMC Musculoskelet Disord

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Background Neuromuscular choristomas (NMCs), are extremely rare developmental lesions that, have been previously established associated with recurrent fibromatosis after surgery, leading to several operations or even amputation. However, reports on the ultrasound imaging features and clinical conditions of NMCs are rare. The purpose of this study is to describe the ultrasound features and clinical analysis of NMCs to provide suggestions to identify the optimal management strategy. Methods From September 2020 to September 2021, 7 patients with a confirmed diagnosis of NMC who underwent ultrasound examination in our department were enrolled in our study. Physical examinations were performed to detect motor deficits, sensory deficits, neuropathic pain, limb undergrowth, muscular atrophy, cavus foot and bone dysplasia. Ultrasound imaging was performed and investigated both in affected nerves and neuromuscular choristomas associated desmoid-type fibromatosis (NMC-DTF). All patients had a definite history and regular follow-up. The clinical course, physical examinations, ultrasound features and pathologic results of NMC patients were analyzed. Results Seven patients with an average age of 7.0 ± 7.2 years (range: 2–22 years) were enrolled in our study. The affected nerves included the sciatic nerve (6 cases) and the brachial plexus (1 case). Six patients (85.7%) presented with limb undergrowth, 6 (85.7%) with muscular atrophy, and 5 (71.4%) with cavus foot deformity. Based on ultrasound findings, all the visibly affected nerve segments presented with hypoechoic and fusiform enlargement with intraneural skeletal muscle elements. Five patients (71.4%) had NMC-DTFs at the site of the affected nerve. All NMC-DTFs were shown as hypoechoic solid lesions adjacent to the nerve and were well circumscribed. In the subset of the surgery group, all 5 patients presented with progression to NMC-DTFs at the site of the NMCs. No fibromatosis was detected in the other two nonsurgical patients. Conclusions Understanding the typical ultrasound features and clinically associated conditions would support the early diagnosis of this rare disease. When a potential diagnosis is determined, an invasive procedure such as biopsy or resection might not be a good choice given the frequent occurrence of complications such as aggressive recurrence.

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Section: Discussionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Clinical features and ultrasound findings of a rare musculoskeletal system disease–neuromuscular choristoma

Guo

Wang

Chen

et al. 2022

BMC Musculoskelet Disord

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“…In our case, despite performing several biopsies due to the difficulty of extracting a good sample due to being such a small child, we have not had for the moment any recurrence of fibromatosis in the scar or in the biopsy path. [10][11][12][13][14][15], It seems that evidence supports a no-touch approach to Neuromuscular Choristomas.…”

Section: Discussionmentioning

confidence: 98%

Neuromuscular Choristoma of the External Peroneal Nerve: A Case Report and Review of the Literature

Hortelano¹

2020

J Surg Open Access

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Case: We report the case of a 4-day-old male infant with a Choristoma of the External peroneal nerve. In the second week of life, he developed an acute peroneal nerve neuropathy. An open biopsy was needed to confirm the diagnosis and decompression of the External peroneal nerve were performed. After 3.5 years of follow-up, the child has complete passive ankle motion but not active dorsal flexion. The US reveals that the child's normal growth is related to small tumor growth. Conclusion:Choristomas are infrequent benign tumors that arise from the peripheral nerves formed by mature skeletal muscle elements mixed with mature neural elements. They present as solitary lesions and are located in cranial nerves, spinal cord and large peripheral nerves such as median nerve, brachial plexus and sciatic nerve. In this case report, we describe the first case reported, as far as we know, of a Choristoma arising from the External peroneal nerve in a newborn, focusing on the difficulties on diagnosis and treatment and we have carried out a systematic review of the literature.

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“…While they may occur spontaneously, these particular cases were often catalyzed by surgery or percutaneous biopsy (Niederhauser et al, 2013). We have also identified several cases of unrecognized NMC in patients who presented with recurrent fibromatosis (Stone et al, 2018). We have recommended a "no-touch" approach for patients suspected with NMC, as MRI features correlated with the classical clinical presentation are pathognomonic and obviate the risk of biopsy and the development of fibromatosis (Hébert-Blouin et al, 2013).…”

Section: Neuromuscular Choristomas: Nerve-territory Undergrowth and Nerve-derived Fibromatosismentioning

confidence: 99%

A novel mechanism for the formation and propagation of neural tumors and lesions through neural highways

Spinner

2021

Clinical Anatomy

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By recognizing anatomic and radiologic patterns of rare and often misdiagnosed peripheral nerve tumors/lesions, we have defined mechanisms for the propagation of neural diseases. The novel concept of the nervous system serving as a complex system of "highways" driving the neural and perineural spread of these lesions is described in three examples: Intraneural dissection of joint fluid in intraneural ganglion cysts, perineural spread of cancer cells, and dissemination of unknown concentrations of neurotrophic/inhibitory factors for growth in hamartomas/choristomas of nerve. Further mapping of these pathways to identify the natural history of diseases, the spectrum of disease evolution, the role of genetic mutations, and how these neural pathways interface with the lymphatic, vascular, and cerebrospinal systems may lead to advances in targeted treatments.

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Recurrent desmoid-type fibromatosis associated with underlying neuromuscular choristoma

Cited by 13 publications

References 30 publications

Clinical features and ultrasound findings of a rare musculoskeletal system disease–neuromuscular choristoma

Clinical features and ultrasound findings of a rare musculoskeletal system disease–neuromuscular choristoma

Neuromuscular Choristoma of the External Peroneal Nerve: A Case Report and Review of the Literature

A novel mechanism for the formation and propagation of neural tumors and lesions through neural highways

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