Atypical neurofibroma of the skin and subcutaneous tissue: clinicopathologic analysis of 11 cases

J Cutan Pathol. 2010 Jan;37(1):35-42. doi: 10.1111/j.1600-0560.2009.01293.x. Epub 2009 Mar 25.

Abstract

Background: Neurofibroma (NF) is a relatively common cutaneous tumor, which typically presents little diagnostic difficulty. Occasionally, however, pleomorphic cells may be present in NF raising consideration of other neoplasms like malignant peripheral nerve sheath tumor (MPNST).

Methods: This study examines the clinicopathologic and immunohistochemical features of 11 dermal and subcutaneous 'atypical' NF.

Results: 9/11 (82%) atypical NF were from females, aged 8-70 years. One patient had neurofibromatosis-1. Most presented on the extremities or trunk. The atypical cells had large hyperchromatic, irregular nuclei, and were arranged in a distinct lamellar or fibrillar pattern. Some tumors were hypercellular, but marked density characteristic of MPNST was not observed. All were nonplexiform. Mitoses were mostly absent. The pleomorphic cells expressed S-100 protein. All were negative for p53. MIB-1 was negative in 7/10 (70%) and stained only rare cells in 3 (30%). Epithelial membrane antigen (EMA) and p16 expression were variable. Of six patients with available follow-up, no tumor recurred and none developed malignancy (range 6-63, mean 33 months).

Conclusions: Superficial atypical NF, while morphologically unusual, has no apparent association with neurofibromatosis-1 or short-term risk of recurrence or malignant transformation. Awareness of this variant is important in order to avoid misdiagnosis of a more aggressive neoplasm.

MeSH terms

  • Adult
  • Aged
  • Biomarkers, Tumor / metabolism
  • Child
  • Diagnosis, Differential
  • Disease-Free Survival
  • Female
  • Humans
  • Male
  • Middle Aged
  • Neoplasm Recurrence, Local
  • Nerve Sheath Neoplasms / pathology
  • Neurofibroma / metabolism
  • Neurofibroma / pathology*
  • Neurofibroma / surgery
  • S100 Proteins / metabolism
  • Skin Neoplasms / metabolism
  • Skin Neoplasms / pathology*
  • Skin Neoplasms / surgery
  • Soft Tissue Neoplasms / metabolism
  • Soft Tissue Neoplasms / pathology*
  • Soft Tissue Neoplasms / surgery
  • Subcutaneous Tissue / metabolism
  • Subcutaneous Tissue / pathology*
  • Subcutaneous Tissue / surgery
  • Young Adult

Substances

  • Biomarkers, Tumor
  • S100 Proteins