Clinicopathological and immunohistochemical characterization of melanotic neuroectodermal tumour of infancy with special focus on BRAFV600E and β-catenin expression.

Authors

Sivakumar N, Akshay Trimukhe, Kiran Jot, Sharanjeet Kaur, Varun Surya, Deepika Mishra, Vivek Nayyar

Published in

Oral surgery, oral medicine, oral pathology and oral radiology. May 20, 2026. Epub May 20, 2026.

Abstract

Melanotic neuroectodermal tumour of infancy is primarily treated by complete surgical excision; however, recurrence rates range from 20% to 25%. Recurrent lesions often exhibit more aggressive behaviour, which complicates surgical management and may preclude radical resection, thereby necessitating the use of adjuvant therapies. The limited molecular characterization of MNTI has impeded the development of targeted therapeutic strategies, particularly for aggressive or recurrent cases. Given the biological similarities between MNTI and melanoma - both of which arise from neural crest-derived cells and demonstrate melanin production - it is plausible that MNTI may harbour oncogenic alterations commonly observed in melanoma, such as the BRAFV600E mutation. Furthermore, mutations in CTNNB1, which have been associated with aggressive behaviour in certain melanoma subtypes, may also contribute to the tumour biology of MNTI. Therefore, the present study aims to evaluate key molecular alterations in MNTI using immunohistochemical analysis.
Immunohistochemistry for BRAFV600E, β-catenin, CD56, panCK, HMB45, S100, synaptophysin and Ki-67 was performed on seven histopathologically confirmed cases of MNTI.
On immunohistochemistry, 2/7 cases (29%) demonstrated co-expression of BRAFV600E and β-catenin, while 1/7 (14%) showed isolated BRAFV600E positivity. Four cases (57%) were negative for both markers. All cases (7/7, 100%) exhibited strong positivity for CD56, panCK, HMB45, synaptophysin and S100, supporting a neuroectodermal origin.
The findings suggest a potential role of BRAFV600E and β-catenin pathway alterations in the biological behavior of MNTI. Further studies with comprehensive molecular profiling are warranted to explore targeted therapeutic options for aggressive or recurrent MNTIs.

PMID:
42401499
Bibliographic data and abstract were imported from PubMed on 05 Jul 2026.

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