Neurofibroma differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2] Shanshan Cen, M.D. [3]

Overview

Neurofibroma must be differentiated from schwannoma, dermatofibrosarcoma protuberans (DFSP), ganglioneuroma, dermal neurotized melanocytic nevus, myxoid liposarcoma, solitary circumscribed neuroma, traumatic neuroma, superficial angiomyxoma, nerve sheath myxoma, malignant peripheral nerve sheath tumor, spindle cell lipoma, Leiomyoma, inflammatory myofibroblastic tumor, and acrochordon.

Differential Diagnosis

Neurofibroma must be differentiated from:[1][2][3]

Differentiating neurofibroma from other diseases
Disease entity Etiology (Genetic or others) Histopathological findings Immunohistochemical staining Risk factors Common site of involvement Clinical manifestations Other associated features
Neurofibroma[4][5][6][7][8][9][10][7][11][12][13]

Can be sporadic or as a part of Neurofibromatosis 1 and 2

  • Uniphasic, low to moderate cellularity
  • Non-encapsulated
  • Random pattern, only rare palisading
  • No well formed verocy bodies
  • Cells separated by collagen bundles
  • Hypocellular with abundant mucinous matrix
  • No peripheral perineural capsule
  • Frequent mast cells
  • Contains neural fibroblasts and fibrillary collagen
  • Random proliferation of Schwann cells and scattered admixed axons
  • No nevoid cells
  • No epithelial component
  • Diffuse growth pattern
  • Scant cytoplasm
  • Wavy cells with buckled nuclei
  • Pseudomeissnerian bodies representing specific differentiation may be present
  • Lacks storiform pattern

Neurofibroma with degenerative atypia ("ancient change") has following microscopic features:

  • Localized cells with large pleomorphic nuclei, cytoplasmic nuclear inclusions, smudgy chromatin, and inconspicuous nuclei
  • Absent or very low mitotic activity
  • Low to moderate cellularity
Positive for:
  • Nerve often not identified, incorporates nerve, axons often present in lesion
  • Seldom cystic
  • Frequently multiple
  • Widespread soft tissue infiltration
  • Tends to displace adnexa
  • <2cm in diameter
  • Lacks distinct lobulation
  • Lacks fat
Schwannoma
  • Encapsulated
  • Biphasic (majority entirely hypercellular Antoni A & hypocellular Antoni B)
  • Palisading
  • Verocay bodies
  • Infrequent extracellular collagen
Positive for:
  • NF-2 associated
  • Nerve often identifiable
  • Eccentric to nerve, axons generally absent within lesion
  • Occasionally cystic
Palisaded encapsulated neuroma Positive for:
  • EMA

Negative for:

  • 90% lesions affect the face
  • No known familial association
Traumatic neuroma
  • Numerous well formed small nerve twigs
  • Limited soft tissue infiltration
  • Contains axons in haphazardly arranged nerves
  • History of trauma or surgery
Neurotized Melanocytic Nevus
  • Superficial classic nevoid melanocytes
  • Congenital and nested growth patterns
  • More abundant cytoplasm
  • Tends to surround adnexa
Positive for:

Negative for:

  • Factor XIIIa
Cutaneous Myxoma (Superficial angiomyxoma)
  • Spindle to stellate cells with oval nuclei
  • 1-5cm in diameter
Positive for:
  • Associated with Carney complex
Nerve sheath myxoma Positive for:
Malignant peripheral nerve sheath tumor
  • Generalized atypia
  • Increased mitotic activity
  • Diffuse hypercellularity
Positive for:
Dermatofibrosarcoma protuberans (DFSP)
  • More cellular
  • Distinct storiform pattern
  • Usually forms a mass
Strongly positive for:

Negative for:

  • Deep soft tissue of posterior neck
Spindle cell lipoma
  • Delicate encapsulation
  • Mostly cases contain fat
  • Floret cell formation
  • No degenerative atypia
Positive for:
  • CD34 (strongly)
  • S-100(stains only fat cells)
Ganglioneuroma[14][15] Genes involved in the pathogenesis of ganglioneuroma include: Positive for:
  • S-100

Ganglioneuromas may be associated with:

Symptoms of ganglioneuroma vary depending on the location of tumor, and include the following:
  • Mediastinum:
    • Dyspnea
    • Chest pain
  • Retroperitoneum:
    • Abdominal pain
    • Bloating
  • Spinal cord:
    • Paresis
    • Pain and numbness in limbs

Patients with ganglioneuroma may also have paraneoplastic syndrome, which may manifest with:

Ganglioneuromas are included in the neuroblastic tumors group, which includes:

  • Ganglioneuroma (benign)
  • Ganglioneuroblastoma (intermediate).
  • Neuroblastoma (aggressive)
Myxoid liposarcoma[16][17][18][19][20][21][22][23][24][25]

Atypical lipomatous tumor/well differentiated liposarcoma and dedifferentiated liposarcoma are associated with:

Myxoid liposarcoma is associated with:

Pleomorphicliposarcoma is associated with:

Well-differentiated liposarcoma:

De-differentiated liposarcoma:

Atypical lipomatous tumor/well differentiated liposarcoma is positive for:

_
Leiomyoma[26][27][28][29][30][31][32][33][27][30][34]

Positive for:

Negative for:

_
Inflammatory myofibroblastic tumor(IMT)[26][27][28][29][30][31][32][33][27][30][34]

Unknown underlying etiology, may be due to inflammatory reaction to:

Mutations such as:

Positive for:

Negative for:

Also known as:

Acrochordon

References

  1. Neurofibroma. Libre Pathology 2015. http://librepathology.org/wiki/index.php/Neurofibroma#cite_note-pmid15486243-2 Accessed on November 17, 2015
  2. http://surgpathcriteria.stanford.edu/peripheral-nerve/neurofibroma/
  3. http://surgpathcriteria.stanford.edu/peripheral-nerve/neurofibroma/
  4. Rodriguez, Fausto J.; Folpe, Andrew L.; Giannini, Caterina; Perry, Arie (2012). "Pathology of peripheral nerve sheath tumors: diagnostic overview and update on selected diagnostic problems". Acta Neuropathologica. 123 (3): 295–319. doi:10.1007/s00401-012-0954-z. ISSN 0001-6322.
  5. Choi, Kwangmin; Komurov, Kakajan; Fletcher, Jonathan S.; Jousma, Edwin; Cancelas, Jose A.; Wu, Jianqiang; Ratner, Nancy (2017). "An inflammatory gene signature distinguishes neurofibroma Schwann cells and macrophages from cells in the normal peripheral nervous system". Scientific Reports. 7 (1). doi:10.1038/srep43315. ISSN 2045-2322.
  6. Liao, Chung-Ping; Booker, Reid C.; Brosseau, Jean-Philippe; Chen, Zhiguo; Mo, Juan; Tchegnon, Edem; Wang, Yong; Clapp, D. Wade; Le, Lu Q. (2018). "Contributions of inflammation and tumor microenvironment to neurofibroma tumorigenesis". Journal of Clinical Investigation. 128 (7): 2848–2861. doi:10.1172/JCI99424. ISSN 0021-9738.
  7. 7.0 7.1 Staser, K.; Yang, F.-C.; Clapp, D. W. (2010). "Mast cells and the neurofibroma microenvironment". Blood. 116 (2): 157–164. doi:10.1182/blood-2009-09-242875. ISSN 0006-4971.
  8. Muir, David; Neubauer, Debbie; Lim, Ingrid T.; Yachnis, Anthony T.; Wallace, Margaret R. (2001). "Tumorigenic Properties of Neurofibromin-Deficient Neurofibroma Schwann Cells". The American Journal of Pathology. 158 (2): 501–513. doi:10.1016/S0002-9440(10)63992-2. ISSN 0002-9440.
  9. Wilkinson, Lana M.; Manson, David; Smith, Charles R. (2004). "Best Cases from the AFIP". RadioGraphics. 24 (suppl_1): S237–S242. doi:10.1148/rg.24si035170. ISSN 0271-5333.
  10. Bernthal, Nicholas; Jones, Kevin; Monument, Michael; Liu, Ting; Viskochil, David; Randall, R. (2013). "Lost in Translation: Ambiguity in Nerve Sheath Tumor Nomenclature and Its Resultant Treatment Effect". Cancers. 5 (4): 519–528. doi:10.3390/cancers5020519. ISSN 2072-6694.
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  14. Vasiliadis, K.; Papavasiliou, C.; Fachiridis, D.; Pervana, S.; Michaelides, M.; Kiranou, M.; Makridis, C. (2012). "Retroperitoneal extra-adrenal ganglioneuroma involving the infrahepatic inferior vena cava, celiac axis and superior mesenteric artery: A case report". International Journal of Surgery Case Reports. 3 (11): 541–543. doi:10.1016/j.ijscr.2012.07.008. ISSN 2210-2612.
  15. https://radiopaedia.org/articles/ganglioneuroma
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  18. Dal Cin, Paola; Kools, Patrick; Sciot, Raf; De Wever, Ivo; Van Damme, Boudewijn; Van de Ven, Wim; Van Den Berghe, Herman (1993). "Cytogenetic and fluorescence in situ hybridization investigation of ring chromosomes characterizing a specific pathologic subgroup of adipose tissue tumors". Cancer Genetics and Cytogenetics. 68 (2): 85–90. doi:10.1016/0165-4608(93)90001-3. ISSN 0165-4608.
  19. Dei Tos, Angelo P.; Doglioni, Claudio; Piccinin, Sara; Sciot, Raf; Furlanetto, Alberto; Boiocchi, Mauro; Dal Cin, Paola; Maestro, Roberta; Fletcher, Christopher D. M.; Tallini, Giovanni (2000). "Coordinated expression and amplification of theMDM2,CDK4, andHMGI-C genes in atypical lipomatous tumours". The Journal of Pathology. 190 (5): 531–536. doi:10.1002/(SICI)1096-9896(200004)190:5<531::AID-PATH579>3.0.CO;2-W. ISSN 0022-3417.
  20. Dei Tos, A (2000). "Liposarcoma: New entities and evolving concepts". Annals of Diagnostic Pathology. 4 (4): 252–266. doi:10.1053/adpa.2000.8133. ISSN 1092-9134.
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  24. A. P. Dei Tos, T. Mentzel, P. L. Newman & C. D. Fletcher (1994). "Spindle cell liposarcoma, a hitherto unrecognized variant of liposarcoma. Analysis of six cases". The American journal of surgical pathology. 18 (9): 913–921. PMID 8067512. Unknown parameter |month= ignored (help)
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