Table 8.

Hereditary Paraganglioma-Pheochromocytoma Syndromes: Surveillance for Individuals at Risk and Affected Individuals

GeneEvaluationFrequency 1
SDHA Clinical assessment for manifestations of PGL/PCC & GISTAnnuallyBeginning at age 6-15 yrs 2
Plasma-free fractionated metanephrines or 24-hour urine fractionated metanephrines (optional dopamine or 3-methoxytyramine) for secreting PGL/PCCEvery 2 yrs in childhood; then annually in adults
Whole-body MRI to assess for PGL, PCC, RCC, & GISTEvery 2-3 yrs
EGD for those w/unexplained anemia & GI symptomsAs needed
Note: Surveillance is not recommended in persons w/SDHA pathogenic variant & no personal or family history of PGL/PCC or other SDHA-related tumors (i.e., incidental finding) due to low penetrance (see Table 3) [Hanson et al 2023].
SDHB Clinical assessment for manifestations of PGL/PCC & GISTAnnuallyBeginning at age 6-10 yrs 3
Plasma-free fractionated metanephrines or 24-hour urine fractionated metanephrines (optional dopamine or 3-methoxytyramine) for secreting PGL/PCCEvery 2 yrs in childhood; then annually in adults
Whole-body MRI for PGL, PCC, RCC, & GISTEvery 2-3 yrs
EGD for those w/unexplained anemia & GI symptomsAs needed
SDHC Clinical surveillance for clinical manifestations of PGL/PCC & GISTAnnuallyBeginning at age 6-15 yrs 3
Plasma-free fractionated metanephrines or 24-hour urine fractionated metanephrines (optional dopamine or 3-methoxytyramine) for secreting PGL/PCCEvery 2 yrs in childhood; then annually in adults
Whole-body MRI for PGL, PCC, RCC, & GISTEvery 2-3 yrs
EGD for those w/unexplained anemia & GI symptomsAs needed
SDHD 4Clinical assessment for manifestations of PGL/PCC & GISTAnnuallyBeginning at age 6-15 yrs 3, 6, 7
Plasma-free fractionated metanephrines or 24-hour urine fractionated metanephrines (optional dopamine or 3-methoxytyramine) for secreting PGL/PCCEvery 2 yrs in childhood; then annually in adults
  • Whole-body MRI for PGL, PCC, RCC, & GIST
  • Note: Some also suggest PET-CT, preferably w/radiolabeled somatostatin analogues. 5, 6
Every 2-3 yrs
EGD for those w/unexplained anemia & GI symptomsAs needed
MAX 4
SDHAF2 4
TMEM127		Clinical assessment for manifestations of PGL/PCC & GISTAnnuallyBeginning at age 6-8 yrs
Plasma-free fractionated metanephrines or 24-hour urine fractionated metanephrines (optional dopamine or 3-methoxytyramine) for secreting PGL/PCCEvery 2 yrs in childhood; then annually in adults
  • Whole-body MRI for PGL, PCC, RCC, & GIST
  • Note: Current guidelines do not provide surveillance recommendations for at-risk persons w/MAX, SDHAF2, or TMEM127 pathogenic variants. 3 Given that persons w/MAX pathogenic variants are primarily at risk for PCC & persons w/SDHAF2 pathogenic variants are primarily at risk for HNPGL, targeted imaging can be considered.
Every 2-3 yrs
EGD for those w/unexplained anemia & GI symptomsAs needed

EGD = esophagogastroduodenoscopy; GI = gastrointestinal; GIST = gastrointestinal stromal tumor; PCC = pheochromocytoma; PGL = paraganglioma; RCC = renal cell carcinoma

1.

The wide age range of when to initiate these recommendations is due to multiple consensus guidelines [Rednam et al 2017, Amar et al 2021]. A patient-centered approach given all available information is recommended to determine the specific age to initiate recommendations.

2.
3.
4.

Recommendations apply to individuals with a paternally inherited pathogenic variant in these genes.

5.
6.

Although some guidelines suggest using PET-CT in combination with MRI as first-line imaging for tumor screening, there is little data for its use in screening (as opposed to defining suspected tumors), and cost and radiation exposure must be considered.

7.

From: Hereditary Paraganglioma-Pheochromocytoma Syndromes

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