Improved discrimination of melanotic schwannoma from melanocytic lesions by combined morphological and GNAQ mutational analysis.

The histological differential diagnosis between melanotic schwannoma, primary leptomeningeal melanocytic lesions and cellular blue nevus can be challenging. Correct diagnosis of melanotic schwannoma is important to select patients who need clinical evaluation for possible association with Carney complex. Recently, we described the presence of activating codon 209 mutations in the GNAQ gene in primary leptomeningeal melanocytic lesions. Identical codon 209 mutations have been described in blue nevi. The aims of the present study were to (1) perform a histological review of a series of lesions (initially) diagnosed as melanotic schwannoma and analyze them for GNAQ mutations, and (2) test the diagnostic value of GNAQ mutational analysis in the differential diagnosis with leptomeningeal melanocytic lesions. We retrieved 25 cases that were initially diagnosed as melanotic schwannoma. All cases were reviewed using established criteria and analyzed for GNAQ codon 209 mutations. After review, nine cases were classified as melanotic schwannoma. GNAQ mutations were absent in these nine cases. The remaining cases were reclassified as conventional schwannoma (n = 9), melanocytoma (n = 4), blue nevus (n = 1) and lesions that could not be classified with certainty as melanotic schwannoma or melanocytoma (n = 2). GNAQ codon 209 mutations were present in 3/4 melanocytomas and the blue nevus. Including results from our previous study in leptomeningeal melanocytic lesions, GNAQ mutations were highly specific (100%) for leptomeningeal melanocytic lesions compared to melanotic schwannoma (sensitivity 43%). We conclude that a detailed analysis of morphology combined with GNAQ mutational analysis can aid in the differential diagnosis of melanotic schwannoma with leptomeningeal melanocytic lesions.
AuthorsHeidi V N Küsters-Vandevelde, Ilse A C H van Engen-van Grunsven, Benno Küsters, Marcory R C F van Dijk, Patricia J T A Groenen, Pieter Wesseling, Willeke A M Blokx
JournalActa neuropathologica (Acta Neuropathol) Vol. 120 Issue 6 Pg. 755-64 (Dec 2010) ISSN: 1432-0533 [Electronic] Germany
PMID20865267 (Publication Type: Case Reports, Comparative Study, Journal Article, Review)
Chemical References
  • Biomarkers, Tumor
  • GNAQ protein, human
  • GTP-Binding Protein alpha Subunits
  • Adult
  • Aged
  • Biomarkers, Tumor (genetics)
  • DNA Mutational Analysis (methods)
  • Diagnosis, Differential
  • Female
  • GTP-Binding Protein alpha Subunits (genetics)
  • Humans
  • Male
  • Meningeal Neoplasms (diagnosis, genetics, pathology)
  • Middle Aged
  • Neuroma, Acoustic (diagnosis, genetics, pathology)
  • Nevus, Blue (diagnosis, genetics, pathology)
  • Retrospective Studies
  • Young Adult

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