OBJECTIVE: For 'asymptomatic carriers' of the succinate dehydrogenase subunit B (SDHB) gene mutations, there is currently no consensus as to the appropriate modality or frequency of surveillance imaging. We present the results of a surveillance programme of SDHB mutation carriers. DESIGN: Review of clinical outcomes of a surveillance regimen in patients identified to have an SDHB gene mutation, based on annual MRI, in a single UK tertiary referral centre. PATIENTS: A total of 92 patients were identified with an SDHB gene mutation. a total of 27 index patients presented with symptoms, and 65 patients were identified as asymptomatic carriers. MEASUREMENTS: Annual MRI of the abdomen, with alternate year MRI of the neck, thorax and pelvis. Presence of an SDHB-related tumour included paraganglioma (PGL), phaeochromocytoma (PCC), renal cell carcinoma (RCC) and gastrointestinal stromal tumour (GIST). RESULTS: A total of 43 PGLs, eight PCCs and one RCC occurred in the 27 index patients (23 solitary, four synchronous, five metachronous). A further 15 SDHB-related tumours (11 PGLs, three RCCs, one GIST) were identified in the asymptomatic carriers on surveillance screening (25% of screened carriers): 10 on the first surveillance imaging and five on subsequent imaging 2-6 years later. A total of 11 patients had malignant disease. CONCLUSIONS: SDHB-related tumours are picked up as early as 2 years after initial negative surveillance scan. We believe the high malignancy rate and early identification rate of tumours justifies the use of 1-2 yearly imaging protocols and MRI-based imaging could form the mainstay of surveillance in this patient group thereby minimizing radiation exposure.
OBJECTIVE: For 'asymptomatic carriers' of the succinate dehydrogenase subunit B (SDHB) gene mutations, there is currently no consensus as to the appropriate modality or frequency of surveillance imaging. We present the results of a surveillance programme of SDHB mutation carriers. DESIGN: Review of clinical outcomes of a surveillance regimen in patients identified to have an SDHB gene mutation, based on annual MRI, in a single UK tertiary referral centre. PATIENTS: A total of 92 patients were identified with an SDHB gene mutation. a total of 27 index patients presented with symptoms, and 65 patients were identified as asymptomatic carriers. MEASUREMENTS: Annual MRI of the abdomen, with alternate year MRI of the neck, thorax and pelvis. Presence of an SDHB-related tumour included paraganglioma (PGL), phaeochromocytoma (PCC), renal cell carcinoma (RCC) and gastrointestinal stromal tumour (GIST). RESULTS: A total of 43 PGLs, eight PCCs and one RCC occurred in the 27 index patients (23 solitary, four synchronous, five metachronous). A further 15 SDHB-related tumours (11 PGLs, three RCCs, one GIST) were identified in the asymptomatic carriers on surveillance screening (25% of screened carriers): 10 on the first surveillance imaging and five on subsequent imaging 2-6 years later. A total of 11 patients had malignant disease. CONCLUSIONS:SDHB-related tumours are picked up as early as 2 years after initial negative surveillance scan. We believe the high malignancy rate and early identification rate of tumours justifies the use of 1-2 yearly imaging protocols and MRI-based imaging could form the mainstay of surveillance in this patient group thereby minimizing radiation exposure.
Authors: Pushpa Neppala; Sudeep Banerjee; Paul T Fanta; Mayra Yerba; Kevin A Porras; Adam M Burgoyne; Jason K Sicklick Journal: Cancer Metastasis Rev Date: 2019-09 Impact factor: 9.264
Authors: Nicola Tufton; Lucy Shapiro; Anju Sahdev; Ajith V Kumar; Lee Martin; William M Drake; Scott A Akker; Helen L Storr Journal: Endocr Connect Date: 2019-03-01 Impact factor: 3.335
Authors: Katrina A Andrews; David B Ascher; Douglas Eduardo Valente Pires; Daniel R Barnes; Lindsey Vialard; Ruth T Casey; Nicola Bradshaw; Julian Adlard; Simon Aylwin; Paul Brennan; Carole Brewer; Trevor Cole; Jackie A Cook; Rosemarie Davidson; Alan Donaldson; Alan Fryer; Lynn Greenhalgh; Shirley V Hodgson; Richard Irving; Fiona Lalloo; Michelle McConachie; Vivienne P M McConnell; Patrick J Morrison; Victoria Murday; Soo-Mi Park; Helen L Simpson; Katie Snape; Susan Stewart; Susan E Tomkins; Yvonne Wallis; Louise Izatt; David Goudie; Robert S Lindsay; Colin G Perry; Emma R Woodward; Antonis C Antoniou; Eamonn R Maher Journal: J Med Genet Date: 2018-01-31 Impact factor: 6.318