Table 3.
SDHx variants/mutations in pituitary adenomas.
| Patient Nr | Gene | Sex | Age | Type | Size/Treatment | ICH/LOH | Other tumors/conditions | Family history | Genetics tested/Prediction | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | SDHB | F | 49 | PRL | Micro/NK | SDHB positive | PHPT | Aunt: ACTH PA | c.5 C > T; p.A2V [Deleterious (SIFT)/benign (PolyPhen)] | de Sousa et al. (2017) [27] |
| 2 | SDHC | F | 34 | PRL | Micro/NK | SDHB positive | None | Brother: PRL PA | c.403 G > C; p.E110Q (Deleterious (SIFT)/possibly damaging (PolyPhen)) | de Sousa et al. (2017) [27] |
| 3 | SDHC | F | 63 | GH | NK | SDHB positive | Pituitary gangliocytoma, PHPT | No | p.E110Q [Deleterious (SIFT)/possibly damaging (PolyPhen)] | de Sousa et al. (2017) [27] |
| 4 | SDHA | M | 62 | NFPA | Macro/TSS | Loss of staining for both SDHA and SDHB | None | No | c.725_736del/c.989_990insTA (double hit) | Gill et al. (2014) [18] |
| 5 | SDHB | F | 35 | PRL | Macro/TSS | intracytoplasmic vacuoles | None | Mother: Prolactinoma, brother: PGL | c.298 T > C (damaging mutation) | Dénes et al. (2015) [22] |
| 6 | SDHA | M | 30 | NFPA | Macro/TSS | ICH negative for SDHA and SDHB | None | Mother carotid body paraganglioma | c.1873C > T p.His625Tyr | Dwight et al. (2013) [24] |
| 7 | SDHB | F | 15 | Nl< | NK | NK | NK | NK | ex. 7 c.761insC p.254fsX255 | Benn et al. (2006) [121] |
| 8 | SDHD | M | 12 | Cushing | Micro/TSS | Not studied | Thyroid | No | ex. 2 c.53 C > T, p.Ala18Val (very rare SNP (allele frequency <0.001) Benign (PSIC 0.004) (by PolyPhen) Deleterious (Score 0.01) (by SHIFT) | Xekouki et al. (2015) [26] |
| 9 | SDHB | F | 31 | PRL | Macro/TSS | LOH at SDHB locus in the PA/SDHB staining: loss of expression of SDHB | None | Grandmother’s first cousin PGL | del ex. 6 to 8 | Dénes et al. (2015) [22] |
| 10 | SDHD | F | 16 | Cushing | Micro/TSS | Not studied | None | No | ex. 2c.149 A > G/p.His50Arg (Probably damaging (PSIC 0.993) (Polyphen) Benign (Score 0.48) (SHIFT) | Xekouki et al. (2015) [26] |
| 11 | SDHB | F | 14 | Cushing | Micro/TSS | Not studied | None | No | ex. 5c.487 T > C, p.Ser163Pro (reported as potentially pathogenic by Ni et al. 2012) [122] | Xekouki et al. (2015) [26] |
| 12 | SDHB | M | 10 | Cushing | Micro/TSS | Not studied | Brachydactyly/dysmorphic features | No | ex. 5c.487 T > C, p.Ser163Pro (reported as potentially pathogenic by Ni et al. 2012) [122] | Xekouki et al. (2015) [26] |
M: Male; F: Female; NK: Not known; PRL: Prolactinoma; GH: Acromegaly; NFPA: Non-functional pituitary adenoma; Macro: Macroadenoma; Micro: Microadenoma; PA: Pituitary adenoma; PGL: Paraganglioma; PHPT: Primary hyperparathyroidism, TSS: Transphenoidal surgery.