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. Author manuscript; available in PMC: 2020 Sep 3.
Published in final edited form as: Endocr Pract. 2017 Mar 23;23(6):690–704. doi: 10.4158/EP161718.RA

Table 2.

Genotype-Biochemical Phenotype Relationship

Gene Transmission Biochemical profile Most common PPGL locations Bilateral PHEO Malignancy Most common clinical features/tumors
EPAS/HIF2A Unknown NE Multifocal sPGLs Possible 29% Somatostatinoma; polycythemia; ocular lesions
FH AD NE Adrenal PPGL sPGL Possible 3/8 cases reported Cutaneous and uterine leiomyoma; type 2 papillary RCC
MAX AD, paternal Intermediatea Adrenal PPGL 67% 7–25% Renal oncocytoma
MDH2 AD NE sPGL Unknown Unknown Unknown
NF1 AD EPI Adrenal PPGL 16% ~12% Cafè-au-lait spots; neurofibromas; axillary and inguinal skin freckling; optic gliomas; iris hamartomas; pseudoarthrosis
RET AD EPI Adrenal PPGL 50–80% <5% MEN2A: MTC, primary HPT MEN2B: MTC, Marfanoid habitus, mucosal ganglioneuromas
SDHA AD NE; NE + DA NS sPGL HNPGL Unknown 0–14% RCC; GIST; pituitary adenoma
SDHAF2 AD, paternal Unknowna Multifocal HNPGLs Not reported Not reported Not reported
SDHB AD NE; NE + DA NS sPGL Rare 31–71% RCC; GIST; pituitary adenoma; pulmonary chondroma
SDHC AD NS; DA NE; NE + DA HNPGL sPGL Unknown 0–28% RCC; GIST; pituitary adenoma
SDHD AD, paternal NE; NE + DA NS sPGL HNPGL Rare <5% RCC; GIST; pituitary adenoma; pulmonary chondroma
TMEM127 AD EPI Adrenal PPGL 33% <5% RCC
VHL AD NE Adrenal PPGL 50% <5% Hemangioblastoma; RCC; PNET; ELST

Abbreviations: AD = autosomal dominant; DA = dopamine; ELST = endolymphatic sac tumor; EPI = epinephrine; GIST = gastrointestinal stromal tumor; HNPGL = head and neck paraganglioma; HPT = hyperparathyroidism; MTC = medullary thyroid carcinoma; NE = norepinephrine; NS = nonsecreting; PNET = pancreatic neuroendocrine tumor; PPGL = pheochromocytoma and/ or paraganglioma; RCC = renal cell carcinoma; sPGL = sympathetic paraganglioma.

a

Please refer to the text for additional detail.