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Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®)

  • Updated: 09/18/2014

Table 7. Gene-specific Imaging and Paraganglioma (PGL) Malignancy Rates

Gene Tumor Location  PGL Malignancy Rate First-line Imaging Modality Second-line Imaging Modality 
Head/NeckThoracic/ Retroperitoneal
SDHB MIMA30%–70%18F-FDG18F-DOPA
SDHC MAMINR18F-DOPANR
SDHD MAMI<5%18F-DOPAFDG-MIBG
SDHAF2 a MANRNR18F-DOPANR
SDHA a MAR<10%18F-FDG18F-FDAb
RET RMA<5%18F-FDOPA123I-MIBG
VHL RMA5%18F-FDG18F-FDOPA
NF1 NRMA12%18F-FDOPA123I-MIBG
TMEM127 a MIMANRNRNR
MAX a NRMANRNRNR

FDG-MIBG = fluorodeoxyglucose-metaiodobenzylguanidine; 18F-DOPA = 18F-dihydroxyphenylalanine; 18F-FDA = 18F-fluorodopamine; 18F-FDG = 18F-fluorodeoxyglucose; 18F-FDOPA = 18F-fluoro-L-dihydroxyphenylalanine; 123I-MIBG = 123I-metaiodobenzylguanidine.
MA = majority (>50%); MI = minority (10%–50%); NR = not reported; R = rare (<10%).
aThese mutations are rare. There is very little information available about the best imaging modality for these mutations. This table will be updated as more information becomes available.
b18F-FDA is currently only available at the National Institutes of Health in Bethesda, MD, as an experimental tracer.
Adapted from Fishbein et al.,[19] Gimenez-Roqueplo et al.,[20] Bausch et al.,[21] and Taïeb et al.[22].

References

  1. Fishbein L, Nathanson KL: Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. Cancer Genet 205 (1-2): 1-11, 2012 Jan-Feb.  [PUBMED Abstract]

  2. Gimenez-Roqueplo AP, Dahia PL, Robledo M: An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Horm Metab Res 44 (5): 328-33, 2012.  [PUBMED Abstract]

  3. Bausch B, Malinoc A, Maruschke L, et al.: [Genetics of pheochromocytoma]. Chirurg 83 (6): 511-8, 2012.  [PUBMED Abstract]

  4. Taïeb D, Timmers HJ, Hindié E, et al.: EANM 2012 guidelines for radionuclide imaging of phaeochromocytoma and paraganglioma. Eur J Nucl Med Mol Imaging 39 (12): 1977-95, 2012.  [PUBMED Abstract]