[Endocrine and neuroendocrine tumors]

Area of Science:

• Endocrinology
• Oncology
• Molecular Pathology

Background:

• Endocrine tumors, including gastrointestinal neuroendocrine neoplasms (GEP-NETs), pheochromocytomas (PC), paragangliomas (PGL), and thyroid tumors, highlight the critical role of molecular pathology.
• Accurate diagnosis, classification, and treatment planning for these tumors heavily rely on molecular insights.

Purpose of the Study:

• To underscore the increasing importance of molecular pathology and biology in the management of endocrine tumors.
• To illustrate how molecular diagnostics influence treatment decisions and patient outcomes for GEP-NETs, PC/PGLs, and thyroid neoplasms.

Main Methods:

• Grading of GEP-NETs using the Ki-67 index to guide molecular imaging and therapy selection.
• Identification of hereditary mutations (e.g., MEN2A, VHL, NF1, SDH) in PC/PGLs to inform surgical and preoperative management.
• Utilizing specific molecular markers for precise diagnosis in thyroid tumors, including distinguishing NIFTP from follicular variants of papillary thyroid carcinoma.

Main Results:

• The Ki-67 index in GEP-NETs dictates molecular imaging (PET/CT), treatment options (surgery, radiopeptide therapy, somatostatin analogues), and prognosis.
• Hereditary factors significantly impact PC/PGL treatment; molecular imaging aids in borderline biochemical cases.
• Molecular pathology aids in determining the extent of resection for follicular thyroid lesions and differentiating specific tumor types, crucial for prophylactic surgery in hereditary conditions like FMTC and MEN2.

Conclusions:

• Molecular pathology is indispensable for the precise diagnosis, classification, and tailored treatment of various endocrine tumors.
• Continued research in molecular pathology promises further advancements in managing GEP-NETs, PC/PGLs, and thyroid neoplasms.
• Personalized medicine approaches, driven by molecular insights, are transforming the care and improving outcomes for patients with endocrine tumors.