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SDH-related familial paraganglioma-phaeochromocytoma – risk management

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Pathogenic variants in SDH subunit genes are inherited in an autosomal dominant pattern.

For pathogenic variants in SDHA, SDHB, or SDHC the tumour risk does not depend on the gender of the parent from whom the pathogenic variant is inherited.

  • Risk management should be offered to male and female pathogenic variant carriers regardless of the gender of the transmitting parent.
  • Genetic testing should be offered to both male and female blood relatives who are at risk of inheriting the pathogenic variant.

For pathogenic variants in SDHD or SDHAF2, in nearly all cases, pathogenic variants inherited through the mother do not significantly increase the risk of tumours but pathogenic variants inherited through the father do increase the risk of tumours (a parent of origin effect).

  • Risk management should be offered to male and female pathogenic variant carriers who have inherited the pathogenic variant from their father.
  • Genetic testing should be offered to both male and female blood relatives who are at risk of inheriting the pathogenic variant.

This risk management guideline has been developed for individuals who have NOT been diagnosed with a relevant cancer/tumour. The care of affected individuals should be individualised based on their clinical situation, and the monitoring they need as part of their treatment and post-­treatment follow up.

The risk management of an individual with a pathogenic variant in two or more genes that confer a predisposition to cancer should also be individualised.

For SDHA:

For SDHB or SDHC:

  • individuals who are known or obligate pathogenic variant carriers
  • those at 50% risk of inheriting a pathogenic variant.

For SDHD or SDHAF2:

  • individual who is a known or obligate carrier of a pathogenic variant inherited from their father
  • those at 50% risk of inheriting a pathogenic variant from their father.

Exclusion criteria

  • An individual who inherited a SDHD or SDHAF2 pathogenic variant from their mother (see evidence section).
  • Those at 50% risk of inheriting a pathogenic variant in SDHA (as penetrance is very low and screening onerous surveillance should only be offered to known or obligate SDHA pathogenic variant carriers).
  Risk of cancer/tumour*
Cancer/tumour type SDHAr SDHBrr SDHCrr SDHD (paternally inherited; excludes c.242C>T**)r SDHAF2 (paternally inherited) General population***
Most common to least commonr HNP >> PPGL PPGL > HNP HNP >> PPGL HNP > PPGL Almost exclusively HNP –
Any PGL/PC Less than 5% to age 80 years Up to 30% to age 80 years Up to 18% to age 80 years Up to 60% to age 60 years Insufficient data Rare
Malignant PGL/PC Uncommon

Up to 1/3 of tumours

5–10% to age 80 years

 Uncommon Uncommon Unknown Rare
Renalr Increased but risk small (<2%) 3–5% to age 80 years Increased but risk small (<2%) Increased but risk small (<2%) Unknown 1.4%^
Gastric GISTr Increased; GIST risk higher than PGL/PC risk Up to 1% to age 80 years Increased but risk small Increased but risk small Unknown <1%
Pituitary adenomar Increased but <1% Increased but <1% Increased but <1% Increased but <1% Unknown Unable to obtain

*Penetrance figures may be over-estimates because of biased ascertainment.
**The SDHD pathogenic variant c.242C>T p.Pro81Leu is almost exclusively associated with HNPGL.r
***General population risk to age 80 yrs.
^Source: Australian Institute of Health and Welfare (AIHW) 2020 Cancer Data in Australia; Canberra: AIHW. <https://www.aihw.gov.au/reports/cancer/cancer-data-in-australia/>. (2016 data)
Abbreviations: PC = adrenal phaeochromocytoma; PGL = paraganglioma; PPGL = non-head and neck PGL and PC; HNP = head and neck PGL; GIST = gastrointestinal stromal tumour; RC = renal cancer; > = more common than; >> = much more common than.

The choice of risk management strategy should take into account current age, other health issues and residual cancer risk.

Cancer/tumour type* SDHA** SDHB SDHC SDHD (paternally inherited) SDHAF2 (paternally inherited)
PGL/PC            
Metanephrines*** Starting age 18 years 5 years 10 years 10 years 10 years
Frequency Annual Annual Annual Annual Annual
MRI base of skull to coccyx Starting age 18 years 10 years 18 years 10 years 18 years
Frequency 5 yearly 2 yearly 3–5 yearly 3–5 yearly 3–5 yearly
Renal cancer            
MRI to coincide with PGL/PC screening Starting age 18 years 10 years 18 years 18 years 18 years
Frequency 5 yearly 2 yearly 3–5 yearly 3–5 yearly 3–5 yearly
Consider high resolution U/S in intervening years
Gastric GIST No evidence of benefit for screening 
Pituitary adenoma No evidence of benefit for screening 

*The impact of lifestyle on cancer risk should be discussed e.g. exercise regularly, maintain a healthy weight, have a healthy diet, limit alcohol intake, do not smoke and avoid excessive sun exposure.
**SDHA pathogenic variants have low penetrance (<5%) and the benefits of screening are unclear.
***Annual fasting free plasma metanephrines or 24 hour urine fractionated metanephrines, and if available plasma or urine 3-methoxytyramine; measurement of 3-methoxytyramine has higher sensitivity for head and neck tumours.

Additional information

Pathogenic variants in SDHAF2 and the specific pathogenic variant SDHD c.242C>T p.Pro81Leu are almost exclusively associated with HNPGL; consider alternating comprehensive MRI with MRI restricted to head and neck region for carriers of this specific SDHD pathogenic variant.

SDHA pathogenic variants demonstrate low penetrance. Few individuals with SDHAF2 pathogenic variants have been reported, and penetrance is unclear. Particular care should be taken in formulating follow-up plans for asymptomatic individuals with SDHA and SDHAF2 pathogenic variants to avoid over-surveillance.

There is no accepted consensus on age to begin, modality or frequency of surveillance in SDH-X pathogenic variant carriers. This expert group’s recommendations are based on what is felt to be a balance between the small chance of missing a young-onset asymptomatic tumour and avoiding the burden over-screening and the consequences of false positive results. Published data indicates age related risks depend on the gene involved, and the recommendations take this into account.rr

Recruitment into research is recommended.

Paraganglioma/phaeochromocytoma

Surveillance

There is evidence to support the routine use of catecholamine screening in patients at high risk of paraganglioma and phaeochromocytoma (PGL/PC).r

  • Plasma free plasma metanephrines or urinary fractionated metanephrines have diagnostic sensitivities greater than 97% with better specificity (85–100%) than total metanephrines or catecholamines.r
  • Measurement of parent catecholamines (noradrenaline, adrenaline and dopamine) has low diagnostic sensitivity (<85%) and is not recommended.
  • Measurement of 3-methoxytyramine has higher sensitivity for dopamine secreting tumours and for head and neck tumours compared to measurement of metanephrines.

With SDHD pathogenic variants it is uncommon for tumours to develop under the age of 10 years and almost all are non-secreting, so measurement of metanephrines is not useful for SDHD pathogenic variant carriers in this age group.

Link to further information on measurement of biogenic amines

There is evidence to support a combination of anatomical and functional imaging in the initial assessment of individuals with pathogenic variants in one of the SDH genes (SDH-X pathogenic variant), and in SDH-X pathogenic variant carriers with abnormal biochemical screens or suspicious clinical symptoms. Evidence is lacking about the optimal imaging surveillance methodology and frequency for asymptomatic individuals, with normal biochemistry.

  • Imaging modalities can detect biochemically “silent” PGL/PC that are missed by biochemical screening, but detected tumours may not need intervention, in particular non-secreting head and neck PGL.r
  • MRI is the modality of choice for screening for head and neck PGL.
  • Both MRI and CT scan have high sensitivity and specificity for PC.
  • Overall, the sensitivity of MRI/CT for screening of SDH-X carriers is 90–95% for head and neck PGL and 100% for PC but performs less well for thoracic and abdominal/pelvic PGL (sensitivity 45–54% at local centre, 76–83% in central centre). Specificity is 92–99%, 95% and 98–100% for head and neck PGL, PC, and thoracic/abdominal/pelvic PGL respectively.r
  • The role of nuclear scans for routine screening is unclear.

Risk reduction

There is some evidence that altitude can modify the penetrance of SDH-X pathogenic variants, with individuals living at lower altitudes demonstrating a less severe phenotype.

Renal cancer

MRI screening for renal cell carcinoma should be done to coincide with PGL/PC. Consider a high resolution renal ultrasound in intervening years.

Gastric GIST

SDH-X pathogenic variants are associated with a poorly defined but increased risk of gastric gastrointestinal stromal tumours (gastric GIST) which are not associated with somatic KIT or PDGFRA pathogenic variants. The gastric GIST risk is highest for SDHA pathogenic variant carriers.r Screening for gastric GIST is not recommended, but pathogenic variant carriers who experience unexplained gastrointestinal symptoms (e.g. gastroesophageal reflux, vomiting, abdominal fullness, or abdominal pain), unexplained anaemia, gastrointestinal bleeding or an abdominal mass should be investigated with the possibility of gastric GIST in mind.

Maternally inherited pathogenic variants in SDHD and SDHAF2

There have been a small number of case reports of maternally inherited SDHD and SDHAF2 pathogenic variants causing disease. A baseline plasma metanephrine test and head and neck imaging, followed by annual plasma metanephrines could be considered. Regular imaging of asymptomatic carriers of a maternally inherited pathogenic variant is not currently recommended. All carriers should be counselled about the 50% risk of transmitting the pathogenic variant to their offspring.

Pathogenic variantFirst degree blood relatives (parents/brothers/sisters/children) are at up to 50% risk of having inherited the pathogenic variant. More distant relatives may also be at risk of inheriting the pathogenic variant. Genetic relatives should be referred to a clinical genetics service or familial cancer centre to discuss predictive genetic testing.

Informing family members about hereditary cancer

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Version 3

Date Summary of changes
18/12/2019 "Mutation" changed to "pathogenic variant" throughout document for consistency among eviQ cancer genetics protocols per agreement among the cancer genetics reference committees' chairs. Definition of "pathogenic variant" added as a pop-up. Protocol version number increased to V.3.
18/12/2020 The following sections of the protocol were updated to align with the revised eviQ cancer genetics risk management template:
  • Lifetime risk of cancer: risk for general population updated to include AIHW 2016 data
  • Cancer risk management guidelines:
    • Sentence added above table "The choice of risk management strategy should take into account current age, other health issues and residual cancer risk." 
    • Other table formatting changes
  • Support and information: template wording updated.

Version 2

Date Summary of changes
15/04/2019

New protocol presented at Nov 2018 reference committee meeting. Discussion continued over email and approved for publication.

  • Protocol replaces protocols ID 752 and ID 1278 which have now been archived. 
  • Protocol approved as V.1. To be reviewed in 2 years.
28/08/2019 Protocol title changed from 'Risk management for SDH-related paraganglioma-phaeochromocytoma predisposition syndromes' to 'SDH-related familial paraganglioma-phaeochromocytoma – risk management' in accordance with Cancer Genetics Reference Committees' consensus. Version number increased to V.2.

As ID 3558 replaces two existing approved protocols, their individual history sections are included below for consistency in documentation.

ID 750 Risk management for paraganglioma-phaeochromocytoma predisposition syndromes (SDHA, SDHB and SDHC gene mutations)
Date Summary of changes
20/12/2010 Approved.
31/05/2012

Discussed at national reference committee meeting April 2012 and decision made for this protocol to cover the following gene mutations SDHA, SDHB and SDHC only. SDHD and SDHAF2 to be covered by a separate protocol.

The following changes have been made under:

  • Title of protocol changed to reflect gene mutations covered SDHA, SDHB and SDHC.
  • Target group -   SDHA gene mutation added.
  • Exculsion criteria - SDHAF2 mutation and other paraganglioma/phaeochromocytoma predisposition genes added RET and TMEM127 added. 
  • Lifetime risk of cancer table -  incidence of tumour development for SDHB mutation updated and SDHD mutation removed.
  • Cancer risk management guidelines updated to include specific recommendations for phaeochormocytoma and paraganglioma surveillance and prevention for SDHB, SDHA and SDHC.
  • Evidence for risk management guidelines - paraganglioma/phaeochromocytoma Surveillance - some of the information is based on expert opinion.
  • Evidence for gastric GIST added. 
  • Reference List - updated and additional references moved to History tab.  

For access to previous version please contact us if required.
10/06/2014

 Discussed at October 30, 2013 reference committee meeting, discussion continued via email and the following changes made:

  • Exclusion criteria - updated.
  • Lifetime risk of cancer - table updated.
  • Cancer risk management guidelines - table - surveillance for SDHB and for all SDHA and SDHC updated.
    Prevention for SDHA, SDHB and SDHC - updated.
  • Evidence for risk management guidelines - paraganglioma/phaeochromocytoma - surveillance updated.
    renal - updated.
  • Support and information- updated.
  • Reference list - references reviewed and updated, further references added to history.
  • For review second yearly.
31/07/2015 Link to AGSA changed to Genetic Alliance Australia.
07/01/2016 Sentence added to Risk Management template: "The impact of lifestyle on cancer risk should be discussed".
14/04/2016 Sentence added to Risk Management template: "This risk management guideline has been developed for individuals who have NOT been diagnosed with a relevant cancer/tumour.  The care of affected individuals should be individualised based on their clinical situation, and the monitoring they need as part of their treatment and post-treatment follow up". 
31/05/2017 Transferred to new eviQ website. Version number changed to V.4.
15/04/2019 Protocol archived, as reviewed prior to Nov 2018 reference committee meeting and replaced by protocol ID 3558 - Risk management for SDH-related paraganglioma-phaeochromocytoma predisposition syndromes.
 

Further references used to develop this protocol:

1. Hensen, E. F. and J. P. Bayley. 2011. "Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma." Fam Cancer 10(2):355-363.

2. Schiavi, F., R. L. Milne, E. Anda, et al. 2010. "Are we overestimating the penetrance of mutations in SDHB?" Hum Mutat 31(6):761-762

3. Neumann, H. P., C. Pawlu, M. Peczkowska, et al. 2004. "Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations." JAMA 292(8):943-951.

4.  Benn, D. E., A. P. Gimenez-Roqueplo, J. R. Reilly, et al. 2006. "Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes." J Clin Endocrinol Metab 91(3):827-836

5.  Ricketts, C. J., J. R. Forman, E. Rattenberry, et al. 2010. "Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD." Hum Mutat 31(1):41-51

6. Lemaire, M., A. Persu, P. Hainaut, et al. 1999. "Hereditary paraganglioma." J Intern Med 246(1):113-116

7. Pasini, B., S. R. McWhinney, T. Bei, et al. 2008. "Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD." Eur J Hum Genet 16(1):79-88

8. Gill, A. J., A. Chou, R. E. Vilain, et al. 2011. ""Pediatric-type" gastrointestinal stromal tumors are SDHB negative ("type 2") GISTs." Am J Surg Pathol 35(8):1245-1247; author reply 1247-1248

9. Waguespack, S. G., T. Rich, E. Grubbs, et al. 2010. "A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paraganglioma." J Clin Endocrinol Metab 95(5):2023-2037

10.  Timmers, H. J., A. Kozupa, G. Eisenhofer, et al. 2007. "Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas." J Clin Endocrinol Metab 92(3):779-786

11. Eisenhofer, G., J. W. Lenders, H. Timmers, et al. 2011. "Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma." Clin Chem 57(3):411-420

12. Sawka, A. M., R. Jaeschke, R. J. Singh, et al. 2003. "A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines." J Clin Endocrinol Metab 88(2):553-558

13. Timmers, H. J., K. Pacak, T. T. Huynh, et al. 2008. "Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene." J Clin Endocrinol Metab 93(12):4826-4832

14.  Brink, I., S. Hoegerle, J. Klisch, et al. 2005. "Imaging of pheochromocytoma and paraganglioma." Fam Cancer 4(1):61-68

15. Dundee, P., B. Clancy, S. Wagstaff, et al. 2005. "Paraganglioma: the role of genetic counselling and radiological screening." J Clin Neurosci 12(4):464-466

16. Havekes, B., K. King, E. W. Lai, J. A. Romijn, E. P. Corssmit and K. Pacak. 2010. "New imaging approaches to phaeochromocytomas and paragangliomas." Clin Endocrinol (Oxf) 72(2):137-145

17. Fottner, C., A. Helisch, M. Anlauf, et al. 2010. "6-18F-fluoro-L-dihydroxyphenylalanine positron emission tomography is superior to 123I-metaiodobenzyl-guanidine scintigraphy in the detection of extraadrenal and hereditary pheochromocytomas and paragangliomas: correlation with vesicular monoamine transporter expression." J Clin Endocrinol Metab 95(6):2800-2810

18. Astrom, K., J. E. Cohen, J. E. Willett-Brozick, et al. 2003. "Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect." Hum Genet 113(3):228-237

19. Ricketts, C., E. R. Woodward, P. Killick, et al. 2008. "Germline SDHB mutations and familial renal cell carcinoma." J Natl Cancer Inst 100(17):1260-1262

20. Tracey E, Kerr T, Dobrovic A, Currow D et al 2010 "Cancer in New South Wales: Incidence and Mortality Report 2008". Sydney: Cancer Institute NSW, August 2010

21. Burnichon, N., V. Rohmer, L. Amar, et al. 2009. "The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas." J Clin Endocrinol Metab 94(8):2817-2827

22. Srirangalingam, U., L. Walker, B. Khoo, et al. 2008. "Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers." Clin Endocrinol (Oxf) 69(4):587-596 

23. Havekes, B., A. A. van der Klaauw, M. M. Weiss, et al. 2009. "Pheochromocytomas and extra-adrenal paragangliomas detected by screening in patients with SDHD-associated head-and-neck paragangliomas." Endocr Relat Cancer 16(2):527-536 

24. Currow D, Thomson W. 2009, Cancer in NSW:Incidence Report 2009. Sydney: Cancer Institute NSW, February 2014.
ID 1278 Risk management for paraganglioma-phaeochromocytoma predisposition syndromes (SDHD and SDHAF2 gene mutations)
Date Summary of changes
29/05/2012

Discussed at national reference committee meeting April 2012 and decision made to develop this protocol for SDHD and SDHAF2 gene mutations.

Evidence for risk management guidelines - Some of the information is based on expert opinion.

Approved.
05/12/2013

Cancer risk management guidelines - phaeochromocytoma and paraganglioma - Surveillance - typographical error noted between these dates 29 May to 5 December 2012, screening for MRI shown as 2 yearly but should be 3 yearly. Therefore corrected as below: 

  • from age 10: recommend 3 yearly MRI of base of skull to coccyx include kidneys and adrenals
10/06/2014

Discussed at October 30 2013 reference committee meeting, discussion continued via email and the following changes made:

  • Exclusion criteria - updated.
  • Lifetime risk of cancer - paternally inherited mutations and table updated.
  • cancer risk management guidelines - table - surveillance and prevention updated for phaeochromocytoma & paraganglioma
  • Evidence for risk management guidelines - paraganglioma/phaeochromocytoma - surveillance updated
    renal - updated
    parent of origin effect updated. 
  • Support and information - updated.
  • Reference list - references reviewed and updated, further references added to history.
  • For review second yearly.  
31/07/2015 Link to AGSA changed to Genetic Alliance Australia.
07/01/2016 Sentence added to Risk Management template: the impact of lifestyle on cancer risk should be discussed.
14/04/2016 Sentence added to Risk Management template: "This risk management guideline has been developed for individuals who have NOT been diagnosed with a relevant cancer/tumour.  The care of affected individuals should be individualised based on their clinical situation, and the monitoring they need as part of their treatment and post-treatment follow up". 
31/05/2017 Transferred to new eviQ website. Version number changed to V.3.
15/04/2019

Protocol archived ,as reviewed prior to Nov 2018 reference committee meeting and replaced by protocol ID 3558 - Risk management for SDH-related paraganglioma-phaeochromocytoma predisposition syndromes.
 

 Further references used to develop this protocol:

1. Hensen, E. F. and J. P. Bayley. 2011. "Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma." Fam Cancer 10(2):355-363

2. Neumann, H. P., C. Pawlu, M. Peczkowska, et al. 2004. "Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations." JAMA 292(8):943-951.

3.  Benn, D. E., A. P. Gimenez-Roqueplo, J. R. Reilly, et al. 2006. "Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes." J Clin Endocrinol Metab 91(3):827-836

4.  Ricketts, C. J., J. R. Forman, E. Rattenberry, et al. 2010. "Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD." Hum Mutat 31(1):41-51

5. Hensen, E. F., J. C. Jansen, M. D. Siemers, et al. 2010. "The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family." Eur J Hum Genet 18(1):62-66

6. Lemaire, M., A. Persu, P. Hainaut, et al. 1999. "Hereditary paraganglioma." J Intern Med 246(1):113-116

7. Pasini, B., S. R. McWhinney, T. Bei, et al. 2008. "Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD." Eur J Hum Genet 16(1):79-88

8. Gill, A. J., A. Chou, R. E. Vilain, et al. 2011. ""Pediatric-type" gastrointestinal stromal tumors are SDHB negative ("type 2") GISTs." Am J Surg Pathol 35(8):1245-1247; author reply 1247-1248

9. Havekes, B., A. A. van der Klaauw, M. M. Weiss, et al. 2009. "Pheochromocytomas and extra-adrenal paragangliomas detected by screening in patients with SDHD-associated head-and-neck paragangliomas." Endocr Relat Cancer 16(2):527-536

10. Waguespack, S. G., T. Rich, E. Grubbs, et al. 2010. "A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paraganglioma." J Clin Endocrinol Metab 95(5):2023-2037

11.Timmers, H. J., A. Kozupa, G. Eisenhofer, et al. 2007. "Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas." J Clin Endocrinol Metab 92(3):779-786

12. Eisenhofer, G., J. W. Lenders, H. Timmers, et al. 2011. "Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma." Clin Chem 57(3):411-420

13. Sawka, A. M., R. Jaeschke, R. J. Singh, et al. 2003. "A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines." J Clin Endocrinol Metab 88(2):553-558

14. Timmers, H. J., K. Pacak, T. T. Huynh, et al. 2008. "Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene." J Clin Endocrinol Metab 93(12):4826-4832

15. Brink, I., S. Hoegerle, J. Klisch, et al. 2005. "Imaging of pheochromocytoma and paraganglioma." Fam Cancer 4(1):61-68

16. Dundee, P., B. Clancy, S. Wagstaff, et al. 2005. "Paraganglioma: the role of genetic counselling and radiological screening." J Clin Neurosci 12(4):464-466

17. Havekes, B., K. King, E. W. Lai, J. A. Romijn, E. P. Corssmit and K. Pacak. 2010. "New imaging approaches to phaeochromocytomas and paragangliomas." Clin Endocrinol (Oxf) 72(2):137-145

18. Fottner, C., A. Helisch, M. Anlauf, et al. 2010. "6-18F-fluoro-L-dihydroxyphenylalanine positron emission tomography is superior to 123I-metaiodobenzyl-guanidine scintigraphy in the detection of extraadrenal and hereditary pheochromocytomas and paragangliomas: correlation with vesicular monoamine transporter expression." J Clin Endocrinol Metab 95(6):2800-2810

19. Astrom, K., J. E. Cohen, J. E. Willett-Brozick, et al. 2003. "Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect." Hum Genet 113(3):228-237

20. Ricketts, C., E. R. Woodward, P. Killick, et al. 2008. "Germline SDHB mutations and familial renal cell carcinoma." J Natl Cancer Inst 100(17):1260-1262

21. Tracey E, Kerr T, Dobrovic A, Currow D et al 2010 "Cancer in New South Wales: Incidence and Mortality Report 2008". Sydney: Cancer Institute NSW, August 2010

22. Hartzell, L. D., K. D. McKelvey, R. L. Van Hemert, et al. 2008. "Cerebellopontine angle tumor in a patient with a maternally inherited SDHD gene mutation." Int Tinnitus J 14(2):97-100

23 Pigny, P., A. Vincent, C. Cardot Bauters, et al. 2008. "Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation." J Clin Endocrinol Metab 93(5):1609-1615

24. Yeap, P. M., E. S. Tobias, E. Mavraki, et al. 2011. "Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect." J Clin Endocrinol Metab 96(12):E2009-2013

25. Hensen, E. F., E. S. Jordanova, I. J. van Minderhout, et al. 2004. "Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families." Oncogene 23(23):4076-4083 19.

26. Burnichon, N., V. Rohmer, L. Amar, et al. 2009. "The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas." J Clin Endocrinol Metab 94(8):2817-2827

27. Currow D, Thomson W. 2009, Cancer in NSW:Incidence Report 2009. Sydney: Cancer Institute NSW, February 2014.

The information contained in this document is based on the highest level of available evidence and consensus of the eviQ reference committee regarding their views of currently accepted approaches to care or treatment. Any clinician seeking to apply or consult this document is expected to use independent clinical judgement in the context of individual clinical circumstances to determine any patient's care or treatment. Use is subject to eviQ’s disclaimer available at www.eviQ.org.au

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https://www.eviq.org.au/p/3558

01 Mar 2021