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FROM DISCOVERY SCIENCE TO THE CLINIC - HERITABLE ENDOCRINE CANCERS AND RELATED DISORDERS: Functional imaging in
Stephen Ludgate1,2, Sarah C Brennan1,3, James McNeil4,5,6
1Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital , St. Leonards, Sydney, New South Wales, Australia.
Endocrine-Related Cancer
|June 11, 2026
Summary
Functional imaging (FI) enhances surveillance for hereditary endocrine neoplasia by providing molecular insights for earlier detection. Genotype-directed algorithms and theranostics are improving management of these complex, multisystem diseases.
Area of Science:
- Endocrinology
- Oncology
- Nuclear Medicine
- Radiology
Background:
- Hereditary endocrine neoplastic syndromes necessitate lifelong surveillance due to multisystem involvement and high risk of advanced disease.
- Functional imaging (FI) offers molecular characterization, complementing anatomical imaging for earlier and more specific lesion detection in these syndromes.
Purpose of the Study:
- To review current functional imaging (FI) approaches for major hereditary endocrine neoplasia syndromes.
- To emphasize radiotracer selection, genotype-phenotype correlations, and clinical implications.
- To discuss emerging technologies and implementation challenges in advancing FI for hereditary endocrine malignancies.
Main Methods:
- Review of established and emerging radiotracers for Positron Emission Tomography (PET) and Single-Photon Emission Computed Tomography (SPECT), including 18F-FDG, 68Ga-DOTATATE, 18F-DOPA, and choline-based agents.
- Analysis of genotype-directed imaging algorithms, particularly for hereditary pheochromocytoma-paraganglioma syndromes (HPPS).
- Exploration of theranostic frameworks targeting somatostatin receptors and norepinephrine transporters.
- Discussion of radiomics and artificial intelligence (AI) in enhancing lesion characterization and prognostication.
Main Results:
- FI enables molecular characterization and earlier/more specific lesion detection, complementing anatomical imaging.
- Genotype-directed imaging algorithms, especially in HPPS, predict tracer avidity and guide theranostics.
- Theranostic approaches have reshaped treatment for advanced/metastatic disease.
- Challenges include access, cost, workforce, radiation exposure, and technical limitations (resolution, artifacts).
Conclusions:
- Advancing FI in hereditary endocrine neoplasia requires genetically informed protocols, harmonized standards, and equitable access.
- Emerging approaches like radiomics and AI hold promise for improved characterization and prognostication.
- Optimized FI strategies can refine risk stratification, treatment selection, and long-term outcomes.