Search Results

You are looking at 1 - 7 of 7 items for :

Clear All
Open access

Yiqiang Huang, Lin-ang Wang, Qiubo Xie, Jian Pang, Luofu Wang, Yuting Yi, Jun Zhang, Yao Zhang, Rongrong Chen, Weihua Lan, Dianzheng Zhang and Jun Jiang

subunit C) and SDHD and two catalytic subunits SDHA (succinate dehydrogenase complex flavoprotein subunit A) and SDHB. SDHB , an eight-exon gene localized on chromosome 1p36.13 and part of the mitochondrial electron transport complex II, is the most

Open access

Nicola Tufton, Lucy Shapiro, Anju Sahdev, Ajith V Kumar, Lee Martin, William M Drake, Scott A Akker and Helen L Storr

–80%). Therefore, it is recommended that all children and adolescents presenting with PPGL should be offered genetic testing ( 3 , 4 ). The most commonly associated genes in children presenting with PPGL (aged ≤21 years) are VHL (38%), followed by SDHB (25

Open access

Joakim Crona, Alberto Delgado Verdugo, Dan Granberg, Staffan Welin, Peter Stålberg, Per Hellman and Peyman Björklund

susceptibility genes: SDHA , SDHB , SDHC , SDHD , SDHAF2 , VHL , HIF2A ( EPAS1 ), RET , NF1 , TMEM127 and MAX (5, 6, 7, 8, 9, 10, 11) . While there has been a constant flow of reported new susceptibility loci, the capacity of instruments approved

Open access

Ailsa Maria Main, Maria Rossing, Line Borgwardt, Birgitte Grønkær Toft, Åse Krogh Rasmussen and Ulla Feldt-Rasmussen

Phaeochromocytomas and paragangliomas (PPGLs) are tumours of the adrenal medulla and extra-adrenal sympathetic nervous system which often secrete catecholamines. Variants of the SDHX (SDHA, -AF2, -B, -C, -D) genes are a frequent cause of familial PPGLs. In this study from a single tertiary centre we aimed to characterize the genotype-phenotype associations in patients diagnosed with germline variants in SDHX genes. We also assessed whether systematic screening of family members resulted in earlier detection of tumours. The study cohort comprised all individuals (n=59) diagnosed with a rare variant in SDHX during a thirteen-year period. Patient- and pathology records were checked for clinical characteristics and histopathological findings. We found distinct differences in the clinical and histopathological characteristics between genetic variants in SDHB. We identified two SDHB variants with distinct phenotypical patterns. Family screening for SDHB variants resulted in earlier detection of tumours in two families. Patients with SDHA, SDHC and SDHD variants also had malignant phenotypes, underlining the necessity for a broad genetic screening of the proband. Our study corroborates previous findings of poor prognostic markers and found that the genetic variants and clinical phenotype are linked and therefore useful in the decision of clinical follow-up. Regular tumour screening of carriers of pathogenic variants may lead to an earlier diagnosis and expected better prognosis. The development of a combined algorithm with clinical, genetic, morphological, and biochemical factors may be the future for improved clinical risk stratification, and forming a basis for larger multi-centre follow up studies.

Open access

Kranti Khadilkar, Vijaya Sarathi, Rajeev Kasaliwal, Reshma Pandit, Manjunath Goroshi, Gaurav Malhotra, Abhay Dalvi, Ganesh Bakshi, Anil Bhansali, Rajesh Rajput, Vyankatesh Shivane, Anurag Lila, Tushar Bandgar and Nalini S Shah

population studies have suggested SDHB germline mutations as an important genetic predictor for metastasis, aggressiveness and poor outcome ( 15 ). Histopathologic features like PASS score and Ki67 have also been suggested to predict malignancy ( 14 , 16

Open access

Natalie Rogowski-Lehmann, Aikaterini Geroula, Aleksander Prejbisz, Henri J L M Timmers, Felix Megerle, Mercedes Robledo, Martin Fassnacht, Stephanie M J Fliedner, Martin Reincke, Anthony Stell, Andrzej Januszewicz, Jacques W M Lenders, Graeme Eisenhofer and Felix Beuschlein

.2–37.8) iPPGL vs fPPGL 0.74 sPPGL vs fPPGL 0.19 iPPGL vs sPPGL 0.28 Mutations in susceptibility genes, n (%) 12/74 (16.2) 17/79 (21.5) 39/64 (60.9) iPPGL vs fPPGL <0.001 sPPGL vs fPPGL <0.001 iPPGL vs sPPGL 0.41   SDHA , n (%)   SDHB , n

Open access

Qiuli Liu, Gang Yuan, Dali Tong, Gaolei Liu, Yuting Yi, Jun Zhang, Yao Zhang, Lin-ang Wang, Luofu Wang, Dianzheng Zhang, Rongrong Chen, Yanfang Guan, Xin Yi, Weihua Lan and Jun Jiang

mutations in the following susceptibility genes of Pheos and/or RCC: SDHAF2 (succinate dehydrogenase complex assembly factor 2), SDHB (succinate dehydrogenase subunit B), SDHC (succinate dehydrogenase subunit C), SDHD (succinate dehydrogenase subunit