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The following is a summary of “Overview of recent guidelines and consensus statements on initial screening and management of phaeochromocytoma and paraganglioma in SDHx pathogenic variant carriers and patients,” published in the September 2024 issue of Endocrinology by Lussey-Lepoutre et al.
Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors characterized by a significant genetic predisposition, with more than 20 genes implicated in their etiology. Notably, germline pathogenic variants are identified in approximately 40% of patients, underscoring the hereditary nature of these tumors. Among these, the succinate dehydrogenase (SDHx) gene family is the most frequently involved, accounting for around 20% of hereditary PPGL cases. The presence of SDHx mutations presents unique diagnostic and therapeutic challenges, as these variants are associated with multiple tumor occurrences, recurrent disease, and aggressive phenotypes, necessitating vigilant, lifelong follow-up care for affected individuals.
Over the past two decades, significant advancements in the biochemical and imaging assessment of PPGLs, alongside enhanced management and follow-up protocols, have markedly improved patient care for both adult and pediatric populations. Innovations include next-generation sequencing, which has revolutionized genetic testing by providing comprehensive insight into the tumor’s genetic landscape. Additionally, novel biochemical tests and cluster-specific functional imaging techniques have enhanced diagnostic accuracy and the ability to monitor tumor behavior over time. Moreover, improvements in surgical techniques, such as stereotactic surgery, as well as advances in radiotherapy, including peptide receptor radionuclide therapy (PRRT), have significantly broadened treatment options available for patients with PPGLs.
In recognition of the complexities associated with managing patients with SDHx pathogenic variants, international consensus guidelines have been established to standardize care protocols. These guidelines emphasize a multidisciplinary approach that facilitates frequent discussions within tumor boards, ensuring comprehensive management strategies tailored to individual patient needs. Key recommendations outlined in these guidelines include initial genetic testing for at-risk individuals, routine tumor screening protocols to monitor for the development of new tumors, and detailed follow-up care to track disease progression and manage potential complications. Additionally, strategies for the management of asymptomatic carriers are addressed, highlighting the importance of proactive monitoring and intervention.
As the understanding of the genetic and biological underpinnings of PPGLs continues to evolve, these advancements are poised to improve prognostic outcomes and enhance the quality of life for patients. The integration of genetic insights into clinical practice, combined with ongoing research and collaborative care, will further refine management strategies and lead to more personalized treatment approaches for individuals affected by these complex and challenging tumors.
Source: sciencedirect.com/science/article/abs/pii/S1521690X24001143
