Unusual histological presentation in neurofibromas: Two case reports

Area of Science:

• Pathology
• Oncology
• Genetics

Background:

• Neurofibromas are benign peripheral nerve sheath tumors.
• Neurofibromatosis type 1 (NF1) is a genetic disorder associated with increased risk of neurofibromas.
• Histological variants of neurofibromas are known, but unusual findings warrant detailed description.

Purpose of the Study:

• To describe and discuss the uncommon histological features observed in two neurofibromas associated with neurofibromatosis type 1.
• To highlight potential diagnostic challenges and implications of these rare variants.

Main Methods:

• Case study of two patients with neurofibromatosis type 1 presenting with subcutaneous nodules.
• Surgical excision of the largest nodule from each patient.
• Detailed histological examination of the excised tumor specimens.

Main Results:

• Case 1: Neurofibroma with benign, mucus-producing glands, an unusual epithelial component.
• Case 2: Neurofibroma exhibiting rosettes interspersed within typical neurofibroma tissue.
• Both tumors were histologically confirmed as benign peripheral nerve sheath tumors.

Conclusions:

• Neurofibromas associated with NF1 can display rare histological features, such as mucus-producing glands and rosettes.
• Recognition of these variants is crucial for accurate diagnosis and appropriate patient management.
• Further research into the pathogenesis of these unusual histological presentations is warranted.