Case Series of Patients With <i>FGFR1</i>‐Related Pheochromocytoma and Paraganglioma With a Focus on Biochemical, Imaging Signatures and Treatment Options

Pheochromocytoma and paraganglioma (together PPGL) are tumours with a high degree of heritability. Genetic landscape is divided into three clusters, cluster 1 (Krebs/pseudohypoxia signalling pathway), cluster 2 (kinase signalling pathway) and cluster 3 (Wnt signalling pathway). With increasing knowledge in the field of genetics, cluster-specific tumour characteristics, biochemical phenotype and imaging signatures are established in commonly found genes. The association of FGFR1 pathogenic mutations with PPGL have been recently described although its features are not yet well established. Here, we present four patients with PPGL who were found to have somatic FGFR1 pathogenic mutations. We discuss their clinical presentations, biochemical phenotypes, imaging signatures and treatment options that will be relevant for practicing physicians in managing these patients effectively.

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Journal
Clinical Endocrinology
Published
2025-03-17
DOI
https://doi.org/10.1111/cen.15212
Primary Topic
Cancer, Hypoxia, and Metabolism
Type
article
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article

Case Series of Patients With FGFR1‐Related Pheochromocytoma and Paraganglioma With a Focus on Biochemical, Imaging Signatures and Treatment Options

Junne Kamihara, Sara Talvacchio, Sakshi Jhawar, Karel Pacák et al.
Clinical Endocrinology
Cancer, Hypoxia, and Metabolism
article

Case Series of Patients With FGFR1‐Related Pheochromocytoma and Paraganglioma With a Focus on Biochemical, Imaging Signatures and Treatment Options

Junne Kamihara, Sara Talvacchio, Sakshi Jhawar, Karel Pacák, Abhishek Jha, Jaydira Del Rivero
article en

Abstract

Pheochromocytoma and paraganglioma (together PPGL) are tumours with a high degree of heritability. Genetic landscape is divided into three clusters, cluster 1 (Krebs/pseudohypoxia signalling pathway), cluster 2 (kinase signalling pathway) and cluster 3 (Wnt signalling pathway). With increasing knowledge in the field of genetics, cluster-specific tumour characteristics, biochemical phenotype and imaging signatures are established in commonly found genes. The association of FGFR1 pathogenic mutations with PPGL have been recently described although its features are not yet well established. Here, we present four patients with PPGL who were found to have somatic FGFR1 pathogenic mutations. We discuss their clinical presentations, biochemical phenotypes, imaging signatures and treatment options that will be relevant for practicing physicians in managing these patients effectively.

Clinical EndocrinologyVol. 102(6)
National Institutes of Health (US), Harvard University (US), National Institute of Diabetes and Digestive and Kidney Diseases (US), National Cancer Institute (US), Eunice Kennedy Shriver National Institute of Child Health and Human Development (US), Dana-Farber/Boston Children's Cancer and Blood Disorders Center (US)
Good health and well-being
Openalex Percentile: Top 94%
Cancer, Hypoxia, and Metabolism
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Case Series of Patients With <i>FGFR1</i>‐Related Pheochromocytoma and Paraganglioma With a Focus on Biochemical, Imaging Signatures and Treatment Options — Junne Kamihara, Sara Talvacchio, et al. · Clinical Endocrinology (2025) | TGRS Research Map | TGRS