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Clear Cell Tumor With MITF::CREM Fusion: A Rare Case Report of a Newly Described Entity
Michael Lie1, Pranav Dorwal2,3, Liyan Song2
1Department of Anatomical Pathology, Women's and Children's Hospital, SA Pathology, North Adelaide, South Australia, Australia.
None:
The increasing application of molecular diagnostics in pathology has enabled the identification of novel tumor entities, including clear cell tumor with MITF::CREM translocation, as recognized in the 5th edition of the WHO Classification of Tumours. We describe a case involving a 2-year-old boy with a left scalp lesion, initially suspected clinically to represent a pyogenic granuloma. Histopathological assessment, corroborated by molecular analysis, established the diagnosis of clear cell tumor with MITF::CREM translocation. This case emphasizes the need to consider rare entities in the differential diagnosis of dermal lesions and highlights the critical role of molecular testing in diagnostic precision. Notably, this molecularly defined neoplasm demonstrated no immunohistochemical evidence of melanocytic differentiation, contrasting with the features described in the WHO classification.
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