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

Maldonado, Andrés A.; Spinner, Robert J.; Broski, Stephen M.; Stone, Jonathan; Howe, Benjamin M.; Carter, Jodi M.

doi:10.1007/s00701-019-04178-8

Cited by 18 publications

(18 citation statements)

References 33 publications

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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: 99%

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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Section: Discussionmentioning

confidence: 99%

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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“…NMC has been considered as a hamartoma that featured the aberrant proliferation of peripheral nerve with a favorable outcome [ 4 ]. NMC associated desmoid-type fibromatosis (DTF) often arises in nerve territory affected by NMC [ 21 , 22 ]. Moreover, histological examination of pathological specimens of aggressive fibromatosis previously revealed a close histological spatial association to NMC [ 23 ].…”

Section: Discussion and Conclusionmentioning

confidence: 99%

“…Moreover, histological examination of pathological specimens of aggressive fibromatosis previously revealed a close histological spatial association to NMC [ 23 ]. Some patients with DTF, but without a diagnosis of NMC, have been found to be occult cases of NMC [ 21 ]. It has been reported that the development of aggressive fibromatosis has a direct relationship with NMC and that patients with neuromuscular choristoma-associated DTF have been under reported.…”

Section: Discussion and Conclusionmentioning

confidence: 99%

A case of esophageal neuromuscular choristoma

Zhao

Zhu

2022

BMC Gastroenterol

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Background Neuromuscular choristoma (NMC) is a rare peripheral nerve lesion that is composed of ectopic mature muscle fibers and nerve fascicles, typically involving major nerve roots or trunks, such as the cranial nerves, brachial plexus, and sciatic nerves. The onset of NMC frequently occurs in the first decade of life. Here, we present the first documented case of a case of esophageal NMC in an adult patient. Case presentation A 46-year-old male patient presented in 2018 with a submucosal tumor of the esophagus. Upon presentation, the tumor was approximately 10 mm in diameter, covered by normal mucosa, and located in the left posterior wall of the esophagus in a position that was 30 cm from the incisor. The tumor was discovered incidentally during gastroscopic examination. In March 2021, endoscopic re-examination revealed no significant changes in the tumor. Endoscopic ultrasound revealed an oval hypoechoic mass with a homogeneous internal echo that originated from the muscularis propria with a maximum cross section of 13 mm × 6 mm. Resection was performed under gastroscopy. The resection specimen was 12 mm × 5 mm in size and was a well-demarcated, elastic, hard, and tough with a gray section. Histologically, the specimen consisted of an abundance of smooth muscle fiber bundles intercalated among nerve fibers, but without malignancy. Immunohistochemical examinations revealed positivity for S-100 protein, caldesmon, NSE and desmin, but negativity for CD117, DOG-1, HMB45, and Melan A. There was also aberrant nuclear localization of beta-catenin. Collectively, these findings led to a diagnosis of esophageal NMC. Conclusions NMC is extremely rare, especially esophageal NMC, and is very challenging to accurately diagnose prior to resection. It is important that we can differentiate NMC from other types of tumors.

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“…Patients present with progressive neuropathy, frequently with undergrowth affecting the bone (limb length discrepancy or cavovarus foot), dysplasia of hip/shoulder joint (Kumar et al, 2014), and soft tissue (atrophic limb). We identified an isolated case, followed by a collection of patients of NMC with fibromatosis (desmoid tumors) (Hébert-Blouin et al, 2012;Maldonado et al, 2019), all with nerve-derived (territory) fibromatosis (Maldonado et al, 2020).…”

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

Cited by 18 publications

References 33 publications

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

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

A case of esophageal neuromuscular choristoma

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

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