Table 2.
Patients with pituitary adenoma and pheochromocytoma/paraganglioma without identified germline genetic defects.
| Pituitary | Pheo/PGL | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient Nr | Sex | Type | Size | Treatment | Age | Type | Treatment | Age | Family history | Mutation | Other Info (when reported) | Reference |
| 1 | M | PRL | Micro | Surgery | 54 | Pheo | Bilateral adrenalectomy | NK | No | Neg for RET, VHL, SDHB, SDHD mutations | Guerrero Pérez et al. (2016) [21] | |
| 2 | F | GH | Micro | Surgery | 56 | Pheo | Bilateral adrenalectomy | NK | No | Neg for RET, VHL, MEN-1 mutations | Bilateral nodules on parathyroid glands, asymptomatic | Guerrero Pérez et al. (2016) [21] |
| 3 | M | PRL | Macro | Cabergoline | 38 | Pheo/PGL | α-Adrenergic blockade | NK | NK | Neg for MEN1 | Catecholamine-mediated cardiac toxicity | Koshy et al. (2016) [86] |
| 4 | F | ACTH | Micro | Surgery | 61 | PGL | Surveillance | 61 | No | Negative for SDHA-D, MEN1, RET, AIP | Bilateral HNPGL | Xekouki et al. (2015) [26] |
| 5 | F | PRL | Macro | DA, surgery | 35 | Pheo | Surgery | 55 | No | Negative for SDHA-D, MEN1, RET, AIP | Bilateral Pheo | Xekouki et al. (2015) [26] |
| 6 | F | GH | Macro | Surgery | 35 | PGL | Surgery | 58 | No | Negative for SDHA-D, MEN1, RET, AIP | Bladder PGL | Xekouki et al. (2015) [26] |
| 7 | F | NFPA | Macro | Surgery | 39 | Pheo | Surgery | 34 | No | Negative for SDHA-D, MEN1, RET, AIP | Xekouki et al. (2015) [26] | |
| 8 | F | GH | Macro | Surgery, RT, DA, SSA | 56 | Pheo | Surgery | 66 | No | Negative for SDHA-D, AF2, MEN1, RET, AIP, VHL, TMEM127, MAX, FH, CDKN1B | GIST, thyroid follicular adenoma | Boguszewski et al. (2012) [87], Dénes et al. (2015) [22] |
| 9 | M | NFPA | Macro | Surgery | 53 | PGL | Surgery | 50 | Father: PA | SDHA c.969 C > T p.Cly323GlyaSDHB-D, AF2, MEN1, RET, AIP, VHL, TMEM127, MAX, FH, CDKN1B all normal | Abdominal PGL Wilms tumor, liposarcoma, renal oncocytoma; PA: no LOH at SDHA locus, intracytoplasmic vacuoles, SDHA and B staining preserved | Dénes et al. (2015) [22] |
| 10 | F | GH | Macro | Surgery, RT, SSA | 39 | Pheo | Surgery | 20 | No | Negative for SDHA-D, AF2, MEN1, RET, AIP, VHL, TMEM127, MAX, FH, CDKN1B | Dénes et al. (2015) [22] | |
| 11 | F | NFPA | Macro | Surgery, RT | 73 | PGL | RT | 73 | No | Negative for SDHA-D, AF2, MEN1, RET, AIP, VHL, TMEMU7, MAX, FH, CDKN1B | HNPGL | Dénes et al. (2015) [22] |
| 12 | M | GH | Macro | Infarcted | 16 | Pheo | NK | 16 | No | Negative for SDHA-D, AF2, MEN1, RET, AIP, VHL, TMEM127, MAX, FH, CDKN1B | Dénes et al. (2015) [22] | |
| 13 | M | PRL | Macro | Surgery | 40 s | PGL | NK | 52 | No | Negative for SDHA-D, AF2, MEN1, RET, AIR VHL, TMEM127, MAX, FH, CDKN1B | HNPGL | Dénes et al. (2015) [22] |
| 14 | F | PRL | NK | NK | 27 | Pheo | NK | 41 | No | Negative for SDHA-D, AF2, MEN1, RET, AIP, VHL, TMEM127, MAX, FH, CDKN1B | Dénes et al. (2015) [22] | |
| 15 | M | NK | NK | NK | NK | Pheo/PGL | NK | NK | No | Negative for SDHA-D, AF2, MEN1, RET, AIP, VHL, TMEM127, MAX, FH, CDKN1B | Denes etal. (2015) [22] | |
| 16 | F | PRL | Micro | DA | 40 | Pheo | Surgery | 38 | No | Negative for SDHA-D, AF2, MEN1, RET, AIP, VHL, TMEM127, MAX, FH, CDKNW | Dénes et al. (2015) [22] | |
| 17 | M | PRL | Micro | DA | 56 | Pheo | Surgery | 56 | No | Negative for SDHA-D, AF2, MEN1, RET, AIP, VHL, TMEM127, MAX, FH, CDKN1B | Dénes et al. (2015) [22] | |
| 18 | F | PRL | Macro | DA | 61 | Pheo | Surgery | 61 | No | Negative for SDHA-D, AF2, MEN1, RET, AIP, VHL, TMEM127, MAX, FH, CDKN1B | Dénes et al. (2015) [22] | |
| 19 | F | PRL | Macro | NK | 60 | PGL | RT | 60 | No | Negative for SDHB | Parghane et al. (2014) [88] | |
| 20 | F | NFPA | Macro | No | 52 | Pheo | Surgery | 52 | No | Negative for SDHA-D, AF2, RET, MAX, TMEMT27, VHL | GHRH secreting Pheo | Mumby et al. (2014) [89] |
| 21 | M | GH | Macro | Surgery | 29 | Pheo | Surgery | 29 | No | Not performed | Bilateral Pheo lipoma, metastatic PTC | Sisson et al. (2012) [90] |
| 22 | NK | GH | NK | NK | NK | Pheo | NK | NK | MEN1 | Not performed | Bilateral Pheo HPTH, pNET Clinical features NF1 | Gatta-Cherifi et al. (2012) [91] |
| 23 | M | GH | Macro | Surgery | 45 | PGL, Pheo | Surgery × 3 | 54 | Father HNPGL, Sister: adrenal abnormality | Not performed | Abdominal, HN, cardiac PGLs | Zhang et al. (2011) [92] |
| 24 | M | NFPA | Micro | No | 64 | Pheo | Surgery | 64 | No | Not performed | High cortisol (cured post-adrenalectomy) | Yaylali et al. (2008) [93] |
| 25 | M | NFPA | Macro | Surgery | 59 | Pheo | Surgery | 59 | No | Not performed | Breckenridge et al. (2003) [94] | |
| 26 | M | NFPA | Macro | Surgery | 56 | Pheo | No | 56 | No | Not performed | Dünser et al. (2002) [95] | |
| 27 | F | GH | Macro | Surgery | 57 | Pheo | Surgery | 57 | No | Not performed | Sleilati et al. (2002) [96] | |
| 28 | M | NK | Micro | No | 43 | Pheo | Surgery | 43 | No | Negative for RET | Lipoma, pectus excavatum, pleomor-phic parotid adenoma. GH levels responded to OGTT post adrenalectomy | Baughan et al. (2001) [97] |
| 29 | F | NK | Micro | No | 44 | Pheo | Surgery | 44 | No | Not performed | Cushing’s (cured post-adrenalectomy) | Khalil et al. (1999) [98] |
| 30 | M | GH | Macro | Surgery | 41 | Pheo, PGLs | Surgery | 20 | NK | Negative for RET | Teh et al. (1996) [99] | |
| 31 | M | PRL | Macro | Surgery | 20 | PGL | Surgery | 20 | NK | Not performed | HNPGL | Azzarelli et al. (1988) [100] |
| 32 | M | PRL | Macro | DA | 26 | Pheo | Surgery | 26 | Father: metastatic MTC and probably Pheo | Not performed | Bertrand et al. (1987) [101] | |
| 33 | F | NFPA | NK | NK | 70 | PGL | NK | 70 | Daughter and granddaughter: PA, bilateral HNPGL | Not performed | HPTH, PTC, gastric leiomyoma, amyloidosis | Larraza-Hernandez et al. (1982) [102] |
| 34 | F | PRL | Micro | NK | 35 | Pheo | NK | 35 | NK | Not performed | Meyers (1982) [103] | |
| 35 | M | NFPA | Macro | Surgery | 66 | PGL | Surgery | 63 | NK | Not performed | Blumenkopf & Boekelheide (1982) [104] | |
| 36 | F | GH | NK | Surgery, RT | 53 | Pheo | Surgery | 58 | Brother: hypertension | Not performed | Anderson et al. (1981) [105] | |
| 37 | F | GH | NK | RT | 33 | Pheo | None | 45 | No | Not performed | Multinodular goiter | Anderson et al. (1981) [105] |
| 38 | F | GH | Macro | NK | 53 | Pheo | NK | 53 | NK | Not performed | HPTH | Myers & Eversman (1981) [106] |
| 39 | F | PRL | NK | NK | 23 | Pheo | NK | 23 | NK | Not performed | HPTH, gastrinoma, adrenal adenoma | Alberts et al. (1980) [107] |
| 40 | F | NK | Macro | NK | 22 | Pheo | NK | 22 | Granddaughter: unilateral Pheo | Not performed | Islet cell tumor/ renal adenoma | Janson et al. (1978) [108] |
| 41 | F | GH | Macro | NK | 15 | Pheo | NK | 15 | NK | Not performed | HPTH | Manger & Clifford (1977) [109] |
| 42 | F | NFPA | NK | NK | 49 | Pheo | None | 49 | NK | Not performed | Papillary carcinoma of thyroid | Melicow (1977) [110] |
| 43 | M | GH | NK | NK | 21 | Pheo | NK | 44 | NK | Not performed | Kadowaki et al. (1976) [111] | |
| 44 | F | GH | NK | NK | 19 | PGL | NK | 19 | NK | Not performed | PGL (HN, pelvis), HPTH | Farhi etal. (1976) [112] |
| 45 | F | GH | NK | NK | 36 | PGL | NK | 36 | NK | Not performed | HNPGL, HPTH, hyperplasia of antral and duodenal gastrin cells | Berg et al. (1976) [113] |
| 46 | F | NK | Micro | NK | 43 | Pheo | NK | 43 | NK | Not performed | MTC | Wolf et al. (1972) [114] |
| 47 | F | GH | NK | RT | 36 | Pheo | Surgery | 36 | NK | Not performed | toxic nodular, goiter, endometriosis, and diabetes, DM | Miller &Wynn (1971) [115] |
| 48 | M | ACTH | NK | NK | NK | Pheo | Surgery | 41 | VI generations with MEN | Not performed | MTC | Steiner et al. (1968) [116] |
| 49 | M | GH | Macro | RT | 23 | Pheo | None | 41 | NK | Not performed | Kahn&Mullon (1964) [117] | |
| 50 | M | GH | NK | NK | NK | Pheo | NK | NK | NK | Not performed | German & Flanigan (1964) [118] | |
| 51 | M | GH | NK | NK | 44 | Pheo | NK | NK | NK | Not performed | Iversen (1952) [119] | |
M: Male; F: Female; NFPA: Non-functional pituitary adenoma; PRL: Prolactinoma; GH: Acromegaly; Macro: Macroadenoma; Micro: Microadenoma; DA: Dopamine agonist; RT: Radiotherapy; SSA: Somatostatin analogue; Pheo: Pheochromocytoma; PGL: Paraganglioma; HNPGL: Head and neck paraganglioma; PTC: Papillary thyroid cancer; GIST: Gastrointestinal stromal tumor; pNET: Pancreatic neuroendocrine tumor; MTC: Medullary thyroid carcinoma; HPTH: Hyperparathyoidism; NK: Not known; MEN1: Multiple endocrine neoplasia type 1; NF1: Neurofibromatosis type 1; GOTT: Glucose oral tolerance test; a Single nucleotide polymorphism with a frequency of 3.5% (Bayley et al. 2005) [120].