Neuromuscular choristoma
Updates to Article Attributes
Neuromuscular choristomas (NMC), also known as benign triton tumours, nerve rhabdomyomas and neuromuscular or ectomesenchymal hamartomas are benign expansile peripheral nerve sheath tumours featuring a tight interconnection of skeletal muscle and nerve fibres within the endoneurial sheath. They also seem to have a precursor role in desmoid-type fibromatosis.
Epidemiology
Neuromuscular choristomas are extremely rare and are usually seen in childhood or adolescence. There is no gender predilection 1.
Associations
Neuromuscular choristoma is associated with desmoid-type fibromatosis 1-3.
Diagnosis
The diagnosis of neuromuscular choristoma is established by histological, immunohistochemical and molecular pathological criteria respectively 1.
Diagnostic criteria
Diagnostic criteria according to the WHO classification of soft tissue and bone tumours (5th edition)1:
- presence of skeletal muscle between nerve fascicles or intraneural components
- intact surrounding perineurium
- immunohistochemical proof of myogenic, neural and endoneurial components
- expression of ß-catenin in neuromuscular choristoma or neuromuscular choristoma
Clinical presentation
Typical clinical features include signs of neuropathy or plexopathy with muscular atrophy as well as progressive pain 1,2.
Pathology
Neuromuscular choristomas are peripheral nerve tumours where skeletal muscle fibres are positioned within a nerve and its fibres 1-3.
Aetiology
Hypotheses about the aetiology of neuromuscular choristomas include the following 1,3:
- hamartomatous overgrowth of muscle spindles
- intraneural entrapment of skeletal muscle during embryogenesis
- myogenic metaplasia of nerve sheath components
- intraneural rhabdomyoma
Location
Neuromuscular choristomas have been reported in large nerves or within the plexus as the sciatic nerve and the brachial plexus. They have been also described in cranial nerves or intraorbital 1-5.
Macroscopic appearance
Macroscopically neuromuscular choristoma shows a multifascicular fusiform nerve enlargement with some nerve fascicles showing a red muscle-like appearance. Nerve stimulation causes contraction of the whole nerve in addition to the innervated muscle 1.
Microscopic appearance
Microscopically neuromuscular choristoma is characterised by disorganizeddisorganised fascicles of skeletal muscle intertwined with nerve fascicles or neural elements 1-4.
Immunophenotype
Immunohistochemistry stains are positive for desmin and muscle-specific actin as well as S100, and possibly epithelial membrane antigen (EMA) or β-catenin 1-3.
Genetics
Most cases of neuromuscular choristomas show a CTNNB1 mutation 1,2.
Radiographic features
MRI
Typical magnetic resonance imaging features include fusiform enlargement of the nerve with characteristics resembling skeletal musculature, as long as there is no associated desmoid tumour 1-4,6.
Signal characteristics
- T1: isointense or slightly hypointense to muscle
- T2: isointense or slightly hypointense to muscle
-
T1 C+ (Gd):
mild heterogeneous contrast- no or minimal enhancement in neuromuscular choristoma alone 1
- strong enhancement in cases with superimposed desmoid fibromatosis 1,6
Radiology report
The radiological report should include a description of the following:
- form, location and size
- tumour margins and transition zone
- affected nerve/plexus and relations to adjacent neurovascular structures
- interfascicular fat
- associated desmoid tumour if present
- relations to bones
Treatment and prognosis
Neuromuscular choristoma is benign and therefore does not require an overly aggressive approach. Since a trauma or surgery related-related stimulation of desmoid-type fibromatosis has been considered and the latter requires aggressive management a do not touch approach has been advocated in patients in whom the diagnosis is clinically and radiologically clear 1,4.
History and etymology
NeuromuscularA case of a neuromuscular choristoma of the sciatic nerve was first described by the Italian physician E. Orlandi in 1895 3,4,7.
Differential diagnosis
Conditions that may mimic the presentation and/or appearance of a neuromuscular choristoma include 1,6:
- lipofibromatous hamartoma: interfascicular fat
- rhabdomyoma
- embryonal rhabdomyosarcoma
-<p><strong>Neuromuscular choristomas (NMC)</strong>, also known as<strong> b</strong><strong>enign triton tumours</strong>, <strong>nerve rhabdomyomas</strong> and <strong>neuromuscular </strong>or <strong>ectomesenchymal </strong><strong>hamartomas</strong> are benign expansile <a href="/articles/peripheral-nerve-sheath-tumours">peripheral nerve sheath tumours</a> featuring a tight interconnection of skeletal muscle and nerve fibres within the endoneurial sheath. They also seem to have a precursor role in <a href="/articles/aggressive-fibromatosis">desmoid-type fibromatosis</a>.</p><h4>Epidemiology</h4><p>Neuromuscular choristomas are extremely rare and are usually seen in childhood or adolescence. There is no gender predilection <sup>1</sup>.</p><h5>Associations</h5><p>Neuromuscular choristoma is associated with <a href="/articles/aggressive-fibromatosis">desmoid-type fibromatosis</a> <sup>1-3</sup>.</p><h4>Clinical presentation</h4><p>Typical clinical features include signs of neuropathy or plexopathy with muscular atrophy as well as progressive pain <sup>1,2</sup>.</p><h4>Pathology</h4><p>Neuromuscular choristomas are peripheral nerve tumours where skeletal muscle fibres are positioned within a nerve and its fibres <sup>1-3</sup>.</p><h5>Aetiology</h5><p>Hypotheses about the aetiology of neuromuscular choristomas include the following <sup>1,3</sup>:</p><ul>- +<p><strong>Neuromuscular choristomas (NMC)</strong>, also known as<strong> b</strong><strong>enign triton tumours</strong>, <strong>nerve rhabdomyomas</strong> and <strong>neuromuscular </strong>or <strong>ectomesenchymal </strong><strong>hamartomas</strong> are benign expansile <a href="/articles/peripheral-nerve-sheath-tumours">peripheral nerve sheath tumours</a> featuring a tight interconnection of skeletal muscle and nerve fibres within the endoneurial sheath. They also seem to have a precursor role in <a href="/articles/aggressive-fibromatosis">desmoid-type fibromatosis</a>.</p><h4>Epidemiology</h4><p>Neuromuscular choristomas are extremely rare and are usually seen in childhood or adolescence. There is no gender predilection <sup>1</sup>.</p><h5>Associations</h5><p>Neuromuscular choristoma is associated with <a href="/articles/aggressive-fibromatosis">desmoid-type fibromatosis</a> <sup>1-3</sup>.</p><h4>Diagnosis</h4><p>The diagnosis of neuromuscular choristoma is established by histological, immunohistochemical and molecular pathological criteria respectively <sup>1</sup>.</p><h5>Diagnostic criteria</h5><p>Diagnostic criteria according to the <a href="/articles/who-classification-of-tumors-of-soft-tissue">WHO classification of soft tissue and bone tumours (5<sup>th</sup> edition)</a> <sup>1</sup>:</p><ul>
- +<li>presence of <a href="/articles/skeletal-muscle">skeletal muscle</a> between nerve fascicles or intraneural components</li>
- +<li>intact surrounding perineurium</li>
- +<li>immunohistochemical proof of myogenic, neural and endoneurial components</li>
- +<li>expression of ß-catenin in neuromuscular choristoma or neuromuscular choristoma</li>
- +</ul><h4>Clinical presentation</h4><p>Typical clinical features include signs of neuropathy or plexopathy with muscular atrophy as well as progressive pain <sup>1,2</sup>.</p><h4>Pathology</h4><p>Neuromuscular choristomas are peripheral nerve tumours where skeletal muscle fibres are positioned within a nerve and its fibres <sup>1-3</sup>.</p><h5>Aetiology</h5><p>Hypotheses about the aetiology of neuromuscular choristomas include the following <sup>1,3</sup>:</p><ul>
-</ul><h5>Location</h5><p>Neuromuscular choristomas have been reported in large nerves or within the plexus as the sciatic nerve and the brachial plexus. They have been also described in cranial nerves or intraorbital <sup>1-5</sup>.</p><h5>Macroscopic appearance</h5><p>Macroscopically neuromuscular choristoma shows a multifascicular fusiform nerve enlargement with some nerve fascicles showing a red muscle-like appearance. Nerve stimulation causes contraction of the whole nerve in addition to the innervated muscle <sup>1</sup>.</p><h5>Microscopic appearance</h5><p>Microscopically neuromuscular choristoma is characterised by disorganized fascicles of skeletal muscle intertwined with nerve fascicles or neural elements <sup>1-4</sup>.</p><h5>Immunophenotype</h5><p><a title="Immunohistochemistry" href="/articles/immunohistochemistry">Immunohistochemistry</a> stains are positive for <a href="/articles/desmin">desmin</a> and <a href="/articles/muscle-specific-actin">muscle-specific actin</a> as well as <a href="/articles/s100">S100</a>, and possibly <a href="/articles/epithelial-membrane-antigen-ema">epithelial membrane antigen (EMA)</a> or <a href="/articles/catenin">β-catenin</a> <sup>1-3</sup>.</p><h5>Genetics</h5><p>Most cases of neuromuscular choristomas show a <em>CTNNB1</em> mutation <sup>1,2</sup>.</p><h4>Radiographic features</h4><h5>MRI</h5><p>Typical magnetic resonance imaging features include fusiform enlargement of the nerve with characteristics resembling skeletal musculature, as long as there is no associated <a href="/articles/desmoid-tumour">desmoid tumour</a> <sup>1-4</sup>.</p><h6>Signal characteristics</h6><ul>- +</ul><h5>Location</h5><p>Neuromuscular choristomas have been reported in large nerves or within the plexus as the sciatic nerve and the brachial plexus. They have been also described in cranial nerves or intraorbital <sup>1-5</sup>.</p><h5>Macroscopic appearance</h5><p>Macroscopically neuromuscular choristoma shows a multifascicular fusiform nerve enlargement with some nerve fascicles showing a red muscle-like appearance. Nerve stimulation causes contraction of the whole nerve in addition to the innervated muscle <sup>1</sup>.</p><h5>Microscopic appearance</h5><p>Microscopically neuromuscular choristoma is characterised by disorganised fascicles of skeletal muscle intertwined with nerve fascicles or neural elements <sup>1-4</sup>.</p><h5>Immunophenotype</h5><p><a href="/articles/immunohistochemistry">Immunohistochemistry</a> stains are positive for <a href="/articles/desmin">desmin</a> and <a href="/articles/muscle-specific-actin">muscle-specific actin</a> as well as <a href="/articles/s100">S100</a>, and possibly <a href="/articles/epithelial-membrane-antigen-ema">epithelial membrane antigen (EMA)</a> or <a href="/articles/catenin">β-catenin</a> <sup>1-3</sup>.</p><h5>Genetics</h5><p>Most cases of neuromuscular choristomas show a <em>CTNNB1</em> mutation <sup>1,2</sup>.</p><h4>Radiographic features</h4><h5>MRI</h5><p>Typical magnetic resonance imaging features include fusiform enlargement of the nerve with characteristics resembling skeletal musculature, as long as there is no associated <a href="/articles/desmoid-tumour">desmoid tumour</a> <sup>1-4,6</sup>.</p><h6>Signal characteristics</h6><ul>
-<strong>T1 C+ (Gd): </strong>mild heterogeneous contrast enhancement</li>- +<strong>T1 C+ (Gd): </strong><ul>
- +<li>no or minimal enhancement in neuromuscular choristoma alone <sup>1</sup>
- +</li>
- +<li>strong enhancement in cases with superimposed desmoid fibromatosis <sup>1,6</sup>
- +</li>
- +</ul>
- +</li>
-</ul><h4>Treatment and prognosis</h4><p>Neuromuscular choristoma is benign and therefore does not require an overly aggressive approach. Since a trauma or surgery related stimulation of desmoid-type fibromatosis has been considered and the latter requires aggressive management a do not touch approach has been advocated in patients in whom the diagnosis is clinically and radiologically clear <sup>1,4</sup>.</p><h4>History and etymology</h4><p>Neuromuscular choristoma was first described by E Orlandi in 1895 <sup>3,4</sup>.</p><h4>Differential diagnosis</h4><p>Conditions that may mimic the presentation and/or appearance of a neuromuscular choristoma include <sup>1</sup>:</p><ul>- +</ul><h4>Treatment and prognosis</h4><p>Neuromuscular choristoma is benign and therefore does not require an overly aggressive approach. Since a trauma or surgery-related stimulation of desmoid-type fibromatosis has been considered and the latter requires aggressive management a do not touch approach has been advocated in patients in whom the diagnosis is clinically and radiologically clear <sup>1,4</sup>.</p><h4>History and etymology</h4><p>A case of a neuromuscular choristoma of the sciatic nerve was first described by the Italian physician <strong>E. Orlandi</strong> in 1895 <sup>3,4,7</sup>.</p><h4>Differential diagnosis</h4><p>Conditions that may mimic the presentation and/or appearance of a neuromuscular choristoma include <sup>1,6</sup>:</p><ul>
-<a href="/articles/fibrolipomatous-hamartoma-of-the-nerve">lipofibromatous hamartoma</a>: interfascicular fat</li>- +<a href="/articles/lipomatosis-of-nerve">lipofibromatous hamartoma</a>: interfascicular fat</li>
References changed:
- 1. Perry A. Neuromuscular choristoma. In: WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours. Lyon (France): International Agency for Research on Cancer; 2020. (WHO classification of tumours series, 5th ed.; vol. 3). <a href="https://publications.iarc.fr/Book-And-Report-Series/Who-Classification-Of-Tumours/Soft-Tissue-And-Bone-Tumours-2020">https://publications.iarc.fr</a>
- 2. Stone J, Prasad N, Laumonerie P et al. Recurrent Desmoid-Type Fibromatosis Associated with Underlying Neuromuscular Choristoma. J Neurosurg. 2019;131(1):175-83. <a href="https://doi.org/10.3171/2018.3.jns152935">doi:10.3171/2018.3.jns152935</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/30168738">Pubmed</a>
- 3. Hébert-Blouin M, Scheithauer B, Amrami K, Durham S, Spinner R. Fibromatosis: A Potential Sequela of Neuromuscular Choristoma. JNS. 2012;116(2):399-408. <a href="https://doi.org/10.3171/2011.6.jns102171">doi:10.3171/2011.6.jns102171</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/21819193">Pubmed</a>
- 4. Lam S, Grandhi R, Wong R, Hamilton R, Greene S. Neuromuscular Hamartoma of the Sciatic Nerve: Case Report and Review of the Literature. Surg Neurol Int. 2013;4(1):8. <a href="https://doi.org/10.4103/2152-7806.106266">doi:10.4103/2152-7806.106266</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/23493803">Pubmed</a>
- 5. Castro D, Raghuram K, Phillips C. Benign Triton Tumor of the Trigeminal Nerve. AJNR Am J Neuroradiol. 2005;26(4):967-9. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7977105">PMC7977105</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/15814954">Pubmed</a>
- 6. Murthy N, Amrami K, Matthew Howe B, Broski S, Carter J, Spinner R. Revisiting the Imaging Appearance of Neuromuscular Choristoma Versus Lipomatous Lesions of Nerve: Nuancing the 50% Rule. Interdisciplinary Neurosurgery. 2021;26:101322. <a href="https://doi.org/10.1016/j.inat.2021.101322">doi:10.1016/j.inat.2021.101322</a>
- 7. Orlandi E: Sopra un caso di rabdomioma del nervo ischiatico. Arch Sci Med (Torino) 19:113–137, 1895.
- 1. W. H. O. Classification WHO Classification of Tumours Editorial Board, Who Classification of Tumours Editorial. Soft Tissue and Bone Tumours. (2020-04-17) ISBN: 9789283245025
- 2. Stone J, Prasad N, Laumonerie P et al. Recurrent Desmoid-Type Fibromatosis Associated with Underlying Neuromuscular Choristoma. J Neurosurg. 2018;131(1):175-183. <a href="https://doi.org/10.3171/2018.3.JNS152935">doi:10.3171/2018.3.JNS152935</a>
- 3. Hébert-Blouin M, Scheithauer B, Amrami K, Durham S, Spinner R. Fibromatosis: A Potential Sequela of Neuromuscular Choristoma. J Neurosurg. 2012;116(2):399-408. <a href="https://doi.org/10.3171/2011.6.JNS102171">doi:10.3171/2011.6.JNS102171</a>
- 4. Lam S, Grandhi R, Wong R, Hamilton R, Greene S. Neuromuscular Hamartoma of the Sciatic Nerve: Case Report and Review of the Literature. Surg Neurol Int. 2013;4(1):8. <a href="https://doi.org/10.4103/2152-7806.106266">doi:10.4103/2152-7806.106266</a>
- 5. Castro D, Raghuram K, Phillips C. Benign Triton Tumor of the Trigeminal Nerve. AJNR Am J Neuroradiol. 2005;26(4):967-9. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7977105">PMC7977105</a>
Tags changed:
- cases3
- soft tissue tumour
- peripheral nerve sheath tumor