Modern Diagnosis of Small Cell Malignancies of Children

Small cell malignancies of children constitute a continuing diagnostic challenge for surgical pathologists, although modern methods of ancillary diagnosis provide powerful tools that resolve most difficult cases. Current techniques range from identification of DNA alternations, including gene fusions, chromosome translocations, and genetic deletions, to recognition of characteristic patterns of protein expression, usually visualized with immunohistochemistry. In spite of these advances, recognition of key cellular and histologic features remains the keystone of diagnosis but requires adequately fixed and carefully stained histologic sections. Cytologic features now suffice for diagnosis if confirmed by appropriate testing. This article outlines key histologic features of pediatric small cell neoplasms and the algorithms that allow diagnostic confirmation and the initiation of appropriate therapy.