SDHB mutation

In addition, unique molecular mechanisms are revealed and individualized therapeutic strategies are explored for specific subtypes such as TFE3, TFEB rearrangement type and SDHB mutant type. The review summarizes the common gene mutations in RCC and their molecular mechanisms, emphasizes their important roles in tumor diagnosis, treatment and prognosis, and looks forward to the application prospects of multi-pathway targeted therapy, metabolic targeted therapy, immunotherapy and nanotechnology in RCC treatment, providing theoretical support and clinical guidance for individualized treatment and new drug development.

P1, N=40, Active, not recruiting, Novartis Pharmaceuticals | Trial completion date: Feb 2025 --> Sep 2025 | Trial primary completion date: Feb 2025 --> Sep 2025

RET pathogenic variant (p.Cys634Trp) associated with MEN2A syndrome was the most prevalent in Romanian population with PPGLs and could be considered as a founder effect. Patients with hereditary disease are diagnosed at a younger age and develop bilateral tumors more frequently compared to sporadic cases.

Our case set highlights the diagnostic challenges of molecularly defined renal tumors and expands the morphological spectrum of SDH-deficient RCC with unusual histological features. Clinically, these tumors appear to be aggressive.

Monitoring and follow-up imaging are ongoing. This case highlights the rare association of pelvic paragangliomas with acute aortic dissection in young adults, emphasising the importance of possible endocrine hypertension in young people with hypertensive emergencies.

Tumors with high-grade features tend to occur in older patients who have a higher Ki-67 index, and who are prone to recurrence and metastasis. Negative immunohistochemical staining results for SDHB can assist in tumor diagnosis, but the loss of SDHB protein expression does not necessarily lead to the detection of SDHB gene mutation.

SDH-deficient renal cell carcinoma is a rare tumour associated with SDH gene germline mutations, and suspected cases should undergo SDHB immunohistochemistry staining. Most SDH-deficient renal cell carcinomas have a good prognosis, but undifferentiated cases require long-term follow-up.

Overall, 18% of germline SDHB mutation-carriers were diagnosed with PCC, all of which were unilateral. SDHB-associated PCC was associated with advanced and recalcitrant disease and was often MIBG positive. More studies are needed to better understand the clinical behavior of PCC in PGL-4.

Specifically, the bulk of plasmanyl ether lipid species that have been recently reported as the major determinants of cancer cell fate are notably decreased. In summary, this work suggests an intersection between active polyamine and lipid pathways in PCC cells.

For the analysis of the treatment algorithms, the following were included: Martin, Mannelli, Neumann, Gupta. Subsequently, publications related to the genetic diagnosis of HNPGL were analyzed to verify the proposed algorithms in light of the latest genetic studies and to establish an updated diagnostic management scheme.

Systemic treatment was rarely used in our cohort. Our single-center experience highlights the need for referral for genetic testing and metabolic evaluation and for a team-based approach to improve the clinical outcomes of patients with HNPGLs.

Robotic-assisted resection can be safe and effective for retroperitoneal malignant paragangliomas. However, management extends beyond surgery and requires cascade genetic testing to address familial risks. Because of the high probability of cancer associated with SDHB mutation, lifelong patient surveillance is imperative.