Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers

Tufton, Nicola; Shapiro, Lucy; Srirangalingam, Umasuthan; Richards, Paula J.; Sahdev, Anju; Kumar, V K Ajith; McAndrew, Lorraine; Martin, Lee; Berney, Daniel M.; Monson, John P.; Chew, Shern L.; Waterhouse, Mona; Druce, Maralyn; Korbonits, Márta; Metcalfe, Karl; Drake, William M; Storr, Helen L; Akker, Scott

doi:10.1111/cen.13246

Cited by 35 publications

(18 citation statements)

References 34 publications

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“…They recommended surveillance imaging for head and neck paragangliomas every 3.2 years based on a Poisson approach. Others have recommended screening every 1 to 2 years in a similar population …”

Section: Discussionmentioning

confidence: 99%

Second primary tumors in patients with a head and neck paraganglioma

et al. 2019

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Background There are conflicting recommendations and possibly overuse of imaging for surveillance of second primary tumors for patients with a history of head and neck paraganglioma. Methods Retrospective cohort study of 234 adults with head and neck paragangliomas (1990‐2010) followed for a mean of 7.5 ± 8.4 years. Results The rate of second paraganglioma was 1.7% after 5 years and 5.1% after 10 years, yielding an incidence of 6.65 per 1000 person‐years. Only 1.3% of patients (2.59 per 1000 person‐years) ever had a second paraganglioma in the chest, abdomen, or pelvis. Patients with a hereditary paraganglioma (hazard ratio [HR] = 4.84, 95% confidence interval [CI]: 1.52‐15.43) or carotid body tumor (HR = 3.55, 95% CI: 1.15‐10.99) were at greater risk. Conclusions The incidence rate of a second primary paragangliomas is low but increases with hereditary disease. These results question the utility of repeated imaging outside of the neck to screen for second paragangliomas.

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Section: Discussionmentioning

confidence: 99%

Second primary tumors in patients with a head and neck paraganglioma

et al. 2019

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“…There may be extended periods of clinical quiescence for several years followed by a period of rapid tumour growth, invasion or metastasis (24,25,26,27). R 2.1.…”

Section: Reasoningmentioning

confidence: 99%

European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas

Raverot

Burman

McCormack

et al. 2018

European Journal of Endocrinology

480

583

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Background: Pituitary tumours are common and easily treated by surgery or medical treatment in most cases. However, a small subset of pituitary tumours does not respond to standard medical treatment and presents with multiple local recurrences (aggressive pituitary tumours) and in rare occasion with metastases (pituitary carcinoma). The present European Society of Endocrinology (ESE) guideline aims to provide clinical guidance on diagnosis, treatment and follow-up in aggressive pituitary tumours and carcinomas. Methods: We decided upfront, while acknowledging that literature on aggressive pituitary tumours and carcinomas is scarce, to systematically review the literature according to the GRADE (Grading of Recommendations Assessment, Development and Evaluation) system. The review focused primarily on first-and second-line treatment in aggressive pituitary tumours and carcinomas. We included 14 single-arm cohort studies (total number of patients = 116) most on temozolomide treatment (n = 11 studies, total number of patients = 106). A positive treatment effect was seen in 47% (95% CI: 36-58%) of temozolomide treated. Data from the recently performed ESE survey on aggressive pituitary tumours and carcinomas (165 patients) were also used as backbone for the guideline. In patients responding to first-line temozolomide, we suggest continuing treatment for at least 6 months in total. Furthermore, the guideline offers recommendations for patients who recurred after temozolomide treatment, for those who did not respond to temozolomide and for patients with systemic metastasis.

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“…One retrospective study that corrected for ascertainment bias and missing pedigree information estimated that the penetrance of SDHB mutation was 21% by age 50 years and 42% by age 70 years similar to a large study with 673 SDHB carriers that estimated penetrance to be 22–24% by 60 years and 30.6% by age 80 years . Surveillance studies using magnetic resonance imaging (MRI) have shown that 12–18% of asymptomatic SDHB carriers developed PPGL within 4–9 years, further supporting lower penetrance .…”

Section: Clinical Characteristics (See Table For a Summary)mentioning

confidence: 99%

“…In a Dutch and British population, the risk of metastasis was only 4% . In one meta‐analysis excluding index patients and one prospective study, 23–33% of patients with manifest disease and 9–13% of their carrier relatives had metastatic PPGL . Up to 14% of SDHB carriers will develop clear cell kidney cancer (cumulative risk estimated to be 4.2% by 60 years ), 2% are diagnosed with GIST, and case reports with papillary thyroid cancer as well as pituitary adenoma have been described .…”

Section: Clinical Characteristics (See Table For a Summary)mentioning

confidence: 99%

“…MRI entails no radiation compared to CT, PET‐CT and MIBG scintigraphy. All these modalities have been able to diagnose PPGL in healthy carriers . Since PPGL can arise from the skull base to the pelvis and mutation carriers may also develop tumours in the kidneys and/or gastrointestinal tract, rapid whole‐body MRI (RWB‐MRI) is recommended (Tables and ) as a faster alternative to conventional MRI with sufficient sensitivity in individuals 15 years of age or older.…”

Section: Surveillance Programme For Healthy Carriers Of Pathogenic Vamentioning

confidence: 99%

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Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

et al. 2019

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Pheochromocytoma and paraganglioma (PPGL) are rare tumours and at least 30% are part of hereditary syndromes. Approximately 20% of hereditary PPGL are caused by pathogenic germ line variants in genes of the succinate dehydrogenase complex (SDHx), TMEM127 or MAX. Herein we present guidelines regarding genetic testing of family members and their surveillance based on a thorough literature review. All cases of PPGL are recommended genetic testing for germ line variants regardless of patient and family characteristics. At minimum, FH, NF1, RET, SDHB, SDHD and VHL should be tested. In addition, testing of MEN1, SDHA, SDHAF2, SDHC, TMEM127 and MAX is recommended. Healthy first‐degree relatives (and second‐degree relatives in the case of SDHD and SDHAF2 which are maternally imprinted) should be offered carrier testing. Carriers of pathogenic variants should be offered surveillance with annual biochemical measurements of methoxy‐catecholamines and bi‐annual rapid whole‐body magnetic resonance imaging and clinical examination. Surveillance should start 5 years before the earliest age of onset in the family and thus only children eligible for surveillance should be offered pre‐symptomatic genetic testing. The surveillance of children younger than 15 years needs to be individually designed. Our guidelines will provide a framework for patient management with the possibility to follow outcome via national registries and/or follow‐up studies. Together with improved insights into the disease, this may enable optimisation of the surveillance scheme in order to minimise both anxiety and medical complications while ensuring early disease detection.

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Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers

Cited by 35 publications

References 34 publications

Second primary tumors in patients with a head and neck paraganglioma

Second primary tumors in patients with a head and neck paraganglioma

European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas

Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

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