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Mucosal neuromas and plexiform neurofibromas: an immunocytochemical study
J Cangiarella1, J Jagirdar, H Adelman
1Department of Pathology, New York University, New York.
Pediatric Pathology
|May 1, 1993
Summary
Distinguishing mucosal neuromas (MN) from plexiform neurofibromas (PN) is vital for diagnosing genetic disorders. Immunocytochemistry using epithelial membrane antigen (EMA) effectively differentiates these lesions, aiding in patient risk assessment for associated conditions.
Area of Science:
- Pathology
- Oncology
- Genetics
Background:
- Mucosal neuromas (MN) are associated with multiple endocrine neoplasia (MEN) type IIb.
- Plexiform neurofibromas (PN) are associated with neurofibromatosis.
- Distinguishing MN from PN is critical due to the high risk of medullary thyroid carcinoma and pheochromocytoma in MEN IIb patients.
Observation:
- Immunocytochemistry (IC) was used to study two cases each of MN and PN.
- Epithelial membrane antigen (EMA) was identified as a key differentiating marker.
Findings:
- Mucosal neuromas (MN) showed a thickened perineurium expressing EMA(+), S-100(-).
- Plexiform neurofibromas (PN) were EMA negative and characterized by enlarged nerve fascicles with a loose myxoid stroma.
- IC highlighted distinct growth patterns and histogenesis between MN and PN.
Implications:
- Immunocytochemistry is a valuable tool for differentiating MN and PN, especially in cases with atypical histology.
- Accurate diagnosis aids in appropriate patient management and risk stratification for MEN IIb and neurofibromatosis.
- This distinction is crucial for identifying patients at risk for developing medullary thyroid carcinoma and pheochromocytoma.
