Table 1.
Clinical Details of the Investigated FC Patients With the SDHC [c.397C>T, p.(Arg133Ter]) Mutation and PGLs
| Index Cases | Age, y | Sex | Family History | Parental Transmission | Initial Localization | Isolated or Multiple | Malignant | Tumor Size, cm | Secretion | U Norepi (N < 440 nmol/d) | U Epi (N < 110 nmol/d) | U Dopa (N < 2570 nmol/d) | U Normeta (N 240) | U Meta (N < 275 nmol/d) | MIBG | Octreo-scan | PET |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IC1 | 37 | M | No | Unknown | Retrocardiac left paraaortic | Multiple | No | 5 × 3.2 × 2.5 3.5 × 3 × 1.5 4.7 × 3 × 2 | S | 2145 | <33 | 1168 | 2277 | 172 | No | No | Yes |
| IC2 | 52 | F | No | Paternal obligatory carrier | HN R carotid body | Isolated | No | 4 × 3.5 × 2,3 | S | 855 | 151 | 3787a | 605 | 83 | No | Yes | NA |
| IC3 | 23 | F | Yes | Paternal | Intrapericardial | Isolated | No | 3.5 × 3 × 2 | S | 10 800 | <12 | 28 704 | 559 | No | Yes | Yes | |
| IC4 | 66 | F | No | Unknown | Anterior and mean mediastinal with extension in the left atrial | Isolated | Malignant multiple bone metastases | 8.5 × 10 × 10 | NS | 326 | 41 | 2097 | 176 | 49 | Yes | NA | Yes |
| IC5 | 32 | M | Yes | Maternal obligatory carrier | HN L carotid | Isolated | No | 4.5 × 4.2 × 2.2 | ND | NA | NA | NA | NA | NA | NA | NA | NA |
| IC6 | 41 | F | No | Maternal | HN R jugulare | Isolated | Malignant; Locally invasive | 3,7 × 2,1 | S | 3363 | 116 | 6104 | 1539 | 226 | NA | NA | NA |
| IC7 | 49 | M | No | Paternal | HN L: vagal R: carotid | Multiple | No | L: 7.2 × 3.8 × 4.6 R: 1.1 × 1.4 | NS | N | N | N | N | N | NA | NA | NA |
| IC8 | 54 | F | No | Unknown | HN L tympanojugular | Isolated | No | 1.5 × 1 × 0.7 | NS | 141 | 12 | 168 | 117 | 71 | NA | NA | NA |
| IC9 | 34 | F | No | Paternal obligatory carrier | HN R carotid | Isolated | Malignant multiple bone metastases | 3 × 2 × 2 | S | 784 | 56 | 61 371b | 412 | 107 | No | Yes | Yes |
| IC10 | 57 | M | No | Unknown | HN carotid-jugulare space | Isolated | No | 6 × 3.5 × 2.8 | S | 428 | 56 | 44 15c | 180 | 179 | NA | NA | Yes |
| R IC3 | 40 | M | Yes | Paternal obligatory carrier | HN carotid-jugulare space | Isolated | No | 3.9 × 3.5 × 2.2 | NS | N | N | N | N | N | NA | NA | NA |
| R IC5 | 47 | M | Yes | Paternal | HN R vagal | Isolated | No | 6.5 × 2.5 × 1.5 | NS | 415 | 31 | 3508 | 319 | 185 | NA | NA | NA |
| Father R IC5 | 81 | M | Yes | Unknown | HN L carotid | Isolated | No | 0.8 | NS | N | N | N | N | N | NA | NA | Yes |
Abbreviations: F, female; HN, head and neck; IC, index case; L, left; M, male; MIBG, (123I)metaiodobenzylguanidine; N, normal; NA, not available; ND, not determined; NS, nonsecreting; R, right; R IC, related of index case; S, secreting; U, urinary.
a
Dosage of 9 948 nmol/d urinary methoxytyramine N < 1450.
b
Plasma methoxytyramine: 12.4 nmol/L N < 0.17.
c
Plasma methoxytyramine: 1.6 nmol/liter N < 0.17.
Bold indicates abnormal values.