Riascos Maria Cristina, Nosé Vania
Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA,
Department of Pathology, Mass General Brigham, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA,
Acta Cytol. 2025 Apr 3:1-14. doi: 10.1159/000545321.
Familial neoplastic syndromes are distinguished by the presence of specific neoplasms which serve as critical indicators for their suspicion and diagnosis. Among these, only a limited subset includes tumors with distinctive oncocytic features, highlights the necessity for pathologists and clinicians to pursue further investigation in affected patients and their families.
Advances in genetic research and diagnostic pathology have highlighted the germline predispositions underlying these tumors, which manifest across multiple organ systems, including thyroid, parathyroid, renal, and adrenal glands. This review examines the clinical, pathological, and molecular features of oncocytic neoplasms in the context of hereditary syndromes such as Carney complex, Li-Fraumeni syndrome, DICER1 syndrome, Birt-Hogg-Dubé syndrome, hyperparathyroidism-jaw tumor syndrome, hereditary leiomyomatosis and renal cell carcinoma syndrome, tuberous sclerosis syndrome, Beckwith-Wiedemann syndrome, and SDH-deficient hereditary paraganglioma/pheochromocytoma syndrome. It emphasizes the importance of recognizing syndromic associations through histopathological clues, genetic testing, and family history to facilitate accurate diagnosis and tailored management.
By integrating clinical insights with molecular data, this paper sheds light on the mechanisms driving oncocytic transformation and underscores the role of pathologists in identifying hereditary cancer syndromes.
