Neurofibroma - Large Biopsy 3-6 cm

Biopsy

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Histopathology of neurofibromas.

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Neurofibroma - Large Biopsy 3-6 cm

Why is it done?
- Definitive diagnosis of suspected neurofibroma lesions measuring 3-6 cm to differentiate from other soft tissue tumors and malignant neoplasms
- Evaluation of neurofibromatosis type 1 (NF1) or neurofibromatosis type 2 (NF2) associated lesions that have increased in size or changed in appearance
- Assessment of suspicious cutaneous or subcutaneous nodules on physical examination or imaging studies
- Exclusion of malignant transformation including atypical neurofibroma or malignant peripheral nerve sheath tumor (MPNST)
- Pathological characterization of lesions that are symptomatic or cosmetically concerning to patients
- Typically performed when lesions are 3-6 cm requiring adequate tissue sampling for comprehensive histopathological analysis
Normal Range
- Normal (Negative) Result: No neurofibroma identified; tissue shows benign findings such as normal skin, subcutaneous fat, or benign lesions (lipoma, fibroma, angioma)
- Units of Measurement: Histopathological diagnosis (qualitative); tissue specimen typically submitted as formalin-fixed paraffin-embedded (FFPE) blocks for microscopic examination
- Interpretation - Normal: Absence of neoplastic neural tissue; no atypical cellular features; no evidence of malignancy
- What Normal Means: Lesion is benign and does not require oncologic treatment; routine clinical follow-up appropriate
Interpretation
- Benign Neurofibroma (Positive for Neurofibroma): Histology shows well-circumscribed tumor composed of proliferating nerve sheath cells (Schwann cells, fibroblasts, perineural cells); loose fascicular architecture with myxoid background; no significant mitotic activity; cellularity appropriate for benign lesion
- Atypical Neurofibroma: Cellular neurofibroma with increased mitotic activity (>4 mitoses/10 HPF) and/or atypia; may show increased cellularity and nuclear enlargement; concerning for potential malignant transformation; requires close clinical surveillance and consideration of repeat imaging
- Malignant Peripheral Nerve Sheath Tumor (MPNST): High cellularity with increased mitotic figures (>4 mitoses/10 HPF); marked nuclear atypia; necrosis may be present; infiltrative growth pattern; requires urgent oncology consultation and comprehensive staging
- Immunohistochemical Findings: S100 protein positive (marker of neural differentiation); variable SOX9 and CD34 positivity; p53 may be elevated in atypical or malignant lesions
- Factors Affecting Interpretation: Patient age and NF1/NF2 status; number and distribution of lesions; clinical presentation and symptoms; imaging characteristics; adequacy of tissue sampling
- Clinical Significance: Distinguishes benign neurofibroma from other soft tissue tumors and malignancies; guides treatment decisions; establishes baseline for monitoring progression; critical for NF patients with multiple lesions to identify high-risk cases
Associated Organs
- Primary Organ Systems: Peripheral nervous system (nerves and nerve sheaths); integumentary system (skin); subcutaneous tissue
- Associated Conditions: Neurofibromatosis type 1 (NF1) - autosomal dominant inherited condition; neurofibromatosis type 2 (NF2); sporadic neurofibromas in non-NF patients
- Diseases This Test Helps Diagnose: Benign neurofibroma; atypical neurofibroma; malignant peripheral nerve sheath tumor (MPNST); nerve sheath tumors; soft tissue sarcomas
- Potential Complications/Risks of Abnormal Results: Malignant transformation to MPNST requiring surgical resection and chemotherapy; metastatic disease with poor prognosis; nerve compression causing pain or dysfunction; cosmetic concerns; high recurrence rates in certain lesion types
- Clinical Complications: Pain or paresthesia if tumor compresses nerve; functional impairment of affected limb; disfigurement; ulceration of overlying skin; bleeding into tumor; pressure effects on adjacent structures
Follow-up Tests
- If Benign Neurofibroma Confirmed: Clinical examination every 6-12 months; ultrasound or MRI at 12-24 months if symptomatic or patient desires; continued surveillance for growth or change
- If Atypical Neurofibroma: MRI or CT imaging of affected region and staging studies; close clinical examination every 3-6 months; possible repeat imaging at 3 months; oncology consultation recommended
- If MPNST Diagnosed: Urgent oncology consultation; staging CT/MRI of primary site and chest; PET-CT for metastatic assessment; molecular testing (NF1 mutation analysis if not previously done); surgical oncology consultation for resection planning
- NF1/NF2 Screening: Genetic counseling and testing if diagnosis of NF1 or NF2 suspected; family screening; ophthalmologic examination for optic nerve gliomas
- Complementary Tests: Immunohistochemistry (S100, SOX9, CD34, p53); electron microscopy for complex cases; molecular testing for malignancy markers; baseline imaging for future comparison
Fasting Required?
- Fasting: No
- Patient Preparation: Biopsy is typically performed in outpatient setting; routine skin preparation (antiseptic cleansing) at biopsy site; local anesthesia with lidocaine administered before procedure
- Pre-Procedure Instructions: Continue all routine medications unless instructed otherwise; avoid aspirin, NSAIDs, and anticoagulants 3-5 days prior if possible (consult with provider); wear loose, comfortable clothing that allows access to biopsy site
- Medications to Avoid: Anticoagulants (warfarin, dabigatran, apixaban) - discuss timing with provider; NSAIDs and aspirin may increase bleeding risk; antiplatelet agents should be discussed with dermatologist
- Post-Procedure Care: Keep biopsy site clean and dry; apply antibiotic ointment as directed; avoid strenuous activity for 24-48 hours; wear clean clothing over biopsy area; watch for signs of infection (increased redness, warmth, purulent drainage); results typically available within 5-7 business days

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