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Diffuse Neurofibroma

MedGen UID:
96598
•Concept ID:
C0432361
•
Neoplastic Process
Synonym: Diffuse neurofibroma
SNOMED CT: Diffuse neurofibroma (254242006)

Definition

A rare neurofibroma with an infiltrative growth pattern. It involves the skin and subcutaneous tissue and grows in a plaque-like fashion. Malignant transformation is rare. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiffuse Neurofibroma

Professional guidelines

PubMed

Dural Ectasia in Neurofibromatosis 1: Case Series, Management, and Review.
Polster SP, Dougherty MC, Zeineddine HA, Lyne SB, Smith HL, MacKenzie C, Pytel P, Yang CW, Tonsgard JH, Warnke PC, Frim DM
Neurosurgery 2020 May 1;86(5):646-655. doi: 10.1093/neuros/nyz244. PMID: 31350851

Recent clinical studies

Etiology

Isolated, Nonsyndromic Mucocutaneous Plexiform Neurofibromas: A Systematic Review of the Clinicopathologic Features.
Ho JD, Ho JAS, Ruddock R, Spencer SA
Am J Dermatopathol 2022 Dec 1;44(12):904-912. doi: 10.1097/DAD.0000000000002322. PMID: 36395447
Congenital cutaneous neurofibromas in neurofibromatosis type 1: Clinicopathological features in early infancy.
García-Martínez FJ, Azorín D, Duat-Rodríguez A, Hernández-Martín Á
J Dtsch Dermatol Ges 2021 Jan;19(1):73-80. Epub 2021 Jan 14 doi: 10.1111/ddg.14322. PMID: 33448128
Dural Ectasia in Neurofibromatosis 1: Case Series, Management, and Review.
Polster SP, Dougherty MC, Zeineddine HA, Lyne SB, Smith HL, MacKenzie C, Pytel P, Yang CW, Tonsgard JH, Warnke PC, Frim DM
Neurosurgery 2020 May 1;86(5):646-655. doi: 10.1093/neuros/nyz244. PMID: 31350851
Benign nerve sheath tumors on urinary bladder biopsy.
Wang W, Montgomery E, Epstein JI
Am J Surg Pathol 2008 Jun;32(6):907-12. doi: 10.1097/PAS.0b013e31815b0c9a. PMID: 18425043
Imaging appearance of diffuse neurofibroma.
Hassell DS, Bancroft LW, Kransdorf MJ, Peterson JJ, Berquist TH, Murphey MD, Fanburg-Smith JC
AJR Am J Roentgenol 2008 Mar;190(3):582-8. doi: 10.2214/AJR.07.2589. PMID: 18287425

Diagnosis

Peripheral Nerve Sheath Tumors in Patients With Neurofibromatosis Type 1: Morphological and Immunohistochemical Study.
Friedrich RE, Nörnberg LKN, Hagel C
Anticancer Res 2022 Mar;42(3):1247-1261. doi: 10.21873/anticanres.15592. PMID: 35220215
Congenital cutaneous neurofibromas in neurofibromatosis type 1: Clinicopathological features in early infancy.
García-Martínez FJ, Azorín D, Duat-Rodríguez A, Hernández-Martín Á
J Dtsch Dermatol Ges 2021 Jan;19(1):73-80. Epub 2021 Jan 14 doi: 10.1111/ddg.14322. PMID: 33448128
Dural Ectasia in Neurofibromatosis 1: Case Series, Management, and Review.
Polster SP, Dougherty MC, Zeineddine HA, Lyne SB, Smith HL, MacKenzie C, Pytel P, Yang CW, Tonsgard JH, Warnke PC, Frim DM
Neurosurgery 2020 May 1;86(5):646-655. doi: 10.1093/neuros/nyz244. PMID: 31350851
Imaging appearance of diffuse neurofibroma.
Hassell DS, Bancroft LW, Kransdorf MJ, Peterson JJ, Berquist TH, Murphey MD, Fanburg-Smith JC
AJR Am J Roentgenol 2008 Mar;190(3):582-8. doi: 10.2214/AJR.07.2589. PMID: 18287425
Ocular neurofibromatosis.
Brownstein S, Little JM
Ophthalmology 1983 Dec;90(12):1595-9. doi: 10.1016/s0161-6420(83)34371-2. PMID: 6429597

Prognosis

Peripheral Nerve Sheath Tumors in Patients With Neurofibromatosis Type 1: Morphological and Immunohistochemical Study.
Friedrich RE, Nörnberg LKN, Hagel C
Anticancer Res 2022 Mar;42(3):1247-1261. doi: 10.21873/anticanres.15592. PMID: 35220215
Dural Ectasia in Neurofibromatosis 1: Case Series, Management, and Review.
Polster SP, Dougherty MC, Zeineddine HA, Lyne SB, Smith HL, MacKenzie C, Pytel P, Yang CW, Tonsgard JH, Warnke PC, Frim DM
Neurosurgery 2020 May 1;86(5):646-655. doi: 10.1093/neuros/nyz244. PMID: 31350851
Melanocytic differentiation is present in a significant proportion of nonpigmented diffuse neurofibromas: a potential diagnostic pitfall.
Pižem J, Nicholson KM, Mraz J, Prieto VG
Am J Surg Pathol 2013 Aug;37(8):1182-91. doi: 10.1097/PAS.0b013e31828950a3. PMID: 23715161
SOX9 expression increases with malignant potential in tumors from patients with neurofibromatosis 1 and is not correlated to desert hedgehog.
Carbonnelle-Puscian A, Vidal V, Laurendeau I, Valeyrie-Allanore L, Vidaud D, Bièche I, Leroy K, Lantieri L, Wolkenstein P, Schedl A, Ortonne N
Hum Pathol 2011 Mar;42(3):434-43. Epub 2010 Dec 28 doi: 10.1016/j.humpath.2010.02.020. PMID: 21193222
Dermatofibrosarcoma protuberans presenting in infancy and childhood.
McKee PH, Fletcher CD
J Cutan Pathol 1991 Aug;18(4):241-6. doi: 10.1111/j.1600-0560.1991.tb01230.x. PMID: 1939782

Clinical prediction guides

Isolated, Nonsyndromic Mucocutaneous Plexiform Neurofibromas: A Systematic Review of the Clinicopathologic Features.
Ho JD, Ho JAS, Ruddock R, Spencer SA
Am J Dermatopathol 2022 Dec 1;44(12):904-912. doi: 10.1097/DAD.0000000000002322. PMID: 36395447
ERBB2 and ERBB3 Growth Factor Receptors, Neuregulin-1, CD44 and Ki-67 Proliferation Index in Neurofibromatosis Type 1-associated Peripheral Nerve Sheath Tumors.
Friedrich RE, Nörnberg LKN, Hagel C
Anticancer Res 2022 May;42(5):2327-2340. doi: 10.21873/anticanres.15712. PMID: 35489721
Peripheral Nerve Sheath Tumors in Patients With Neurofibromatosis Type 1: Morphological and Immunohistochemical Study.
Friedrich RE, Nörnberg LKN, Hagel C
Anticancer Res 2022 Mar;42(3):1247-1261. doi: 10.21873/anticanres.15592. PMID: 35220215
Congenital cutaneous neurofibromas in neurofibromatosis type 1: Clinicopathological features in early infancy.
García-Martínez FJ, Azorín D, Duat-Rodríguez A, Hernández-Martín Á
J Dtsch Dermatol Ges 2021 Jan;19(1):73-80. Epub 2021 Jan 14 doi: 10.1111/ddg.14322. PMID: 33448128
Atypical Spindle Cell Lipomatous Tumor: Clinicopathologic Characterization of 232 Cases Demonstrating a Morphologic Spectrum.
Mariño-Enriquez A, Nascimento AF, Ligon AH, Liang C, Fletcher CD
Am J Surg Pathol 2017 Feb;41(2):234-244. doi: 10.1097/PAS.0000000000000770. PMID: 27879515

Recent systematic reviews

Isolated, Nonsyndromic Mucocutaneous Plexiform Neurofibromas: A Systematic Review of the Clinicopathologic Features.
Ho JD, Ho JAS, Ruddock R, Spencer SA
Am J Dermatopathol 2022 Dec 1;44(12):904-912. doi: 10.1097/DAD.0000000000002322. PMID: 36395447

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