Clear Cell Tumor With MITF::CREM Fusion: A Rare Case Report of a Newly Described Entity

Area of Science:

• Oncology
• Pathology
• Molecular Diagnostics

Background:

• The 5th edition of the WHO Classification of Tumours recognizes novel entities like clear cell tumor with MITF::CREM translocation.
• Molecular diagnostics are increasingly vital in identifying new tumor types.
• Dermal lesions require careful differential diagnosis, including rare neoplastic entities.

Purpose of the Study:

• To report a case of clear cell tumor with MITF::CREM translocation in a pediatric patient.
• To emphasize the role of molecular analysis in diagnosing rare tumors.
• To discuss diagnostic discrepancies between molecular findings and immunohistochemical features.

Main Methods:

• Clinical presentation of a scalp lesion in a 2-year-old boy.
• Histopathological examination of the lesion.
• Molecular analysis to identify MITF::CREM translocation.

Main Results:

• Diagnosis of clear cell tumor with MITF::CREM translocation was confirmed via molecular testing.
• The neoplasm lacked immunohistochemical evidence of melanocytic differentiation.
• Clinical suspicion of pyogenic granuloma was ruled out.

Conclusions:

• Rare entities, such as clear cell tumor with MITF::CREM translocation, should be considered in the differential diagnosis of pediatric dermal lesions.
• Molecular testing is crucial for accurate diagnosis and classification of neoplasms.
• This case highlights potential discordance between molecularly defined tumors and traditional immunohistochemical markers.