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]
- Schwannoma
- Dermatofibrosarcoma protuberans (DFSP)
- Ganglioneuroma
- Dermal neurotized melanocytic nevus
- Myxoid liposarcoma
- Solitary circumscribed neuroma (palisaded encapsulated neuroma)
- Traumatic neuroma
- Superficial angiomyxoma
- Nerve sheath myxoma
- Malignant peripheral nerve sheath tumor (MPNST): has marked atypia and increased mitotic activity, may have necrosis
- Spindle cell lipoma
- Leiomyoma: has cigar-shaped nuclei, S100 negative, positive for smooth muscle actin and desmin
- Inflammatory myofibroblastic tumor: reactive spindle cells in inflammatory background
- Acrochordon (aka skin tag or soft fibroma)
Disease entity | Etiology (Genetic or others) | Histopathological findings | Immunohistochemical staining | Risk factors | Common site of involvement | Clinical manifestations | Other associated features |
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Neurofibroma |
Can be sporadic or as a part of Neurofibromatosis 1 and 2
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Neurofibroma with degenerative atypia ("ancient change") has following microscopic features:
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Positive for:
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Schwannoma |
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Positive for:
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Palisaded encapsulated neuroma |
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Positive for:
Negative for: |
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Traumatic neuroma |
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Neurotized Melanocytic Nevus |
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Positive for:
Negative for:
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Cutaneous Myxoma (Superficial angiomyxoma) |
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Positive for: |
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Nerve sheath myxoma |
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Positive for: | |||||
Malignant peripheral nerve sheath tumor |
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Positive for:
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Dermatofibrosarcoma protuberans (DFSP) |
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Strongly positive for:
Negative for: |
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Spindle cell lipoma |
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Positive for:
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Ganglioneuroma | Genes involved in the pathogenesis of ganglioneuroma include:
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Positive for:
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Myxoid liposarcoma[4][5][6][7][8][9][10][11][12][13] |
Atypical lipomatous tumor/well differentiated liposarcoma and dedifferentiated liposarcoma are associated with:
Myxoid liposarcoma is associated with: Pleomorphicliposarcoma is associated with:
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Well-differentiated liposarcoma:
De-differentiated liposarcoma:
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Atypical lipomatous tumor/well differentiated liposarcoma is positive for: |
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Leiomyoma[14][15][16][17][18][19][20][21][15][18][22] |
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Positive for:
Negative for: |
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Inflammatory myofibroblastic tumor(IMT)[14][15][16][17][18][19][20][21][15][18][22] |
Unknown underlying etiology, may be due to inflammatory reaction to:
Mutations such as:
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Positive for:
Negative for: |
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Also known as:
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Acrochordon |
References
- ↑ Neurofibroma. Libre Pathology 2015. http://librepathology.org/wiki/index.php/Neurofibroma#cite_note-pmid15486243-2 Accessed on November 17, 2015
- ↑ http://surgpathcriteria.stanford.edu/peripheral-nerve/neurofibroma/
- ↑ http://surgpathcriteria.stanford.edu/peripheral-nerve/neurofibroma/
- ↑ Khin Thway, Rashpal Flora, Chirag Shah, David Olmos & Cyril Fisher (2012). "Diagnostic utility of p16, CDK4, and MDM2 as an immunohistochemical panel in distinguishing well-differentiated and dedifferentiated liposarcomas from other adipocytic tumors". The American journal of surgical pathology. 36 (3): 462–469. doi:10.1097/PAS.0b013e3182417330. PMID 22301498. Unknown parameter
|month=
ignored (help) - ↑ J. Rosai, M. Akerman, P. Dal Cin, I. DeWever, C. D. Fletcher, N. Mandahl, F. Mertens, F. Mitelman, A. Rydholm, R. Sciot, G. Tallini, H. Van den Berghe, W. Van de Ven, R. Vanni & H. Willen (1996). "Combined morphologic and karyotypic study of 59 atypical lipomatous tumors. Evaluation of their relationship and differential diagnosis with other adipose tissue tumors (a report of the CHAMP Study Group)". The American journal of surgical pathology. 20 (10): 1182–1189. PMID 8827023. Unknown parameter
|month=
ignored (help) - ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ M. D. Kraus, L. Guillou & C. D. Fletcher (1997). "Well-differentiated inflammatory liposarcoma: an uncommon and easily overlooked variant of a common sarcoma". The American journal of surgical pathology. 21 (5): 518–527. PMID 9158675. Unknown parameter
|month=
ignored (help) - ↑ P. Argani, F. Facchetti, G. Inghirami & J. Rosai (1997). "Lymphocyte-rich well-differentiated liposarcoma: report of nine cases". The American journal of surgical pathology. 21 (8): 884–895. PMID 9255251. Unknown parameter
|month=
ignored (help) - ↑ H. L. Evans (1979). "Liposarcoma: a study of 55 cases with a reassessment of its classification". The American journal of surgical pathology. 3 (6): 507–523. PMID 534388. Unknown parameter
|month=
ignored (help) - ↑ 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) - ↑ D. C. Dahlin, K. K. Unni & T. Matsuno (1977). "Malignant (fibrous) histiocytoma of bone--fact or fancy?". Cancer. 39 (4): 1508–1516. PMID 192432. Unknown parameter
|month=
ignored (help) - ↑ 14.0 14.1 Coffin CM, Watterson J, Priest JR, Dehner LP (1995). "Extrapulmonary inflammatory myofibroblastic tumor (inflammatory pseudotumor). A clinicopathologic and immunohistochemical study of 84 cases". Am J Surg Pathol. 19 (8): 859–72. PMID 7611533.
- ↑ 15.0 15.1 15.2 15.3 Wenig BM, Devaney K, Bisceglia M (1995). "Inflammatory myofibroblastic tumor of the larynx. A clinicopathologic study of eight cases simulating a malignant spindle cell neoplasm". Cancer. 76 (11): 2217–29. PMID 8635024.
- ↑ 16.0 16.1 Ramachandra S, Hollowood K, Bisceglia M, Fletcher CD (1995). "Inflammatory pseudotumour of soft tissues: a clinicopathological and immunohistochemical analysis of 18 cases". Histopathology. 27 (4): 313–23. PMID 8847061.
- ↑ 17.0 17.1 Häusler M, Schaade L, Ramaekers VT, Doenges M, Heimann G, Sellhaus B (2003). "Inflammatory pseudotumors of the central nervous system: report of 3 cases and a literature review". Hum Pathol. 34 (3): 253–62. doi:10.1053/hupa.2003.35. PMID 12673560.
- ↑ 18.0 18.1 18.2 18.3 Rabban JT, Zaloudek CJ, Shekitka KM, Tavassoli FA (2005). "Inflammatory myofibroblastic tumor of the uterus: a clinicopathologic study of 6 cases emphasizing distinction from aggressive mesenchymal tumors". Am J Surg Pathol. 29 (10): 1348–55. PMID 16160478.
- ↑ 19.0 19.1 Kovach SJ, Fischer AC, Katzman PJ, Salloum RM, Ettinghausen SE, Madeb R; et al. (2006). "Inflammatory myofibroblastic tumors". J Surg Oncol. 94 (5): 385–91. doi:10.1002/jso.20516. PMID 16967468.
- ↑ 20.0 20.1 Coffin CM, Dehner LP, Meis-Kindblom JM (1998). "Inflammatory myofibroblastic tumor, inflammatory fibrosarcoma, and related lesions: an historical review with differential diagnostic considerations". Semin Diagn Pathol. 15 (2): 102–10. PMID 9606802.
- ↑ 21.0 21.1 Berardi RS, Lee SS, Chen HP, Stines GJ (1983). "Inflammatory pseudotumors of the lung". Surg Gynecol Obstet. 156 (1): 89–96. PMID 6336632.
- ↑ 22.0 22.1 Coffin CM, Hornick JL, Fletcher CD (2007). "Inflammatory myofibroblastic tumor: comparison of clinicopathologic, histologic, and immunohistochemical features including ALK expression in atypical and aggressive cases". Am J Surg Pathol. 31 (4): 509–20. doi:10.1097/01.pas.0000213393.57322.c7. PMID 17414097.