Table 1.
Clinical Characteristics of SDHA Patients in the study.
| PT ID i | Sex | SDHA Mutation | Age (d) ii | Age (s) iii | Primary Tumor | Biochemical Phenotype/s iv | Time to Metastasis | Metastatic Location/s |
Treatment/s | Ki-67 v | Deceased |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | f | c.91C>T (p.Arg31*) | 11 | 23 | Left Vagale PGL | None | meta, 12 mo |
Bones, Neck, Abdomen, Lung | Surgery of Primary, Surgery of Recurrence | Not available | No |
| 2 | m | c.91C>T (p.Arg31*) | 57 | 61 | Paraaortic PGL and Left Carotid Body PGL | ADR, DA | meta, 7 mo |
Neck and Mediastinum | Surgery | Not available | No |
| 3 | f | c.1534C>T (p.Arg512*) | 53 | 63 | Paraaortic PGL | NA, DA | syn | Bone, Neck, Mediastinum, Abdomen, Pelvis | Partial resection of Primary; SSA; 90Y-DOTATOC; 177Lu-DOTATOC; CVD; bortezomib and clofarabine; combination capecitabine and TMZ | 15% in focal areas of periaortic PGL | Yes |
| 4 | m | c.91C>T (p.Arg31*) | 20 | 23 | Aortocaval PGL | None | syn, 2 mo vi |
Bones and Abdomen | Surgery | Not available | No |
| 5 | m | c.91C>T (p.Arg31*) | 14 | 16 | Paracaval PGL | ADR, NA | syn | Bone | Surgery of Primary, 90Y-DOTATOC, SSA, ONC201 | 3.5% in PGL biopsy | No |
| 6 | m | c.1334C>T (p.S445L) VUS | 53 | 59 | Mediastinal PGL | NA, DA | meta, 48 mo |
Bones and Mediastinum | Surgery, SSA, TMZ | 15–20% in T10 met | No |
| 7 | m | c.91C>T (p.Arg31*) | 56 | 67 | Left Adrenal PHEO | ADR, NA, DA | meta, 120 mo |
Bones, Lung, Liver, Neck | Surgery of Primary, EBRT, 123I-MIBG, CVD | Not available | Yes |
| 8 | f | 5′UTR_3′ UTRdel | 29 | 33 | Porta Hepatis/Right Adrenal PPGL | NA | meta, 20 mo |
Bones, Mediastinum, Lungs | Surgery of Primary, Surgery of Recurrence, EBRT, 177Lu-DOTATATE | 20–30% in T7 epidural Met | Yes |
| 9 | m | c.91C>T (p.Arg31*) | 44 | 45 | Paraaortic PGL | None | syn | Bones, Lung, Mediastinum, Abdomen | Surgical decompression of Spine Met, 123I-MIBG, TMZ | 10–15% Primary | Yes |
| 10 | f | c.91C>T (p.Arg31*) | 46 | 54 | Aortocaval PGL | ADR, NA | meta, 78 mo |
Bone, Mediastinum, Liver, Abdomen, Pelvis, Neck | Surgery of Primary, EBRT, 177Lu-DOTATATE, CVD, Liver embolization, Liver trisegmentectomy | >20% in Liver Mets | Yes |
| 11 | f | c.91C>T (p.Arg31*) | 16 | 17 | Mediastinal PGL | None | meta, 7 mo |
Bone | Resection of Primary, resection of recurrent bed | Not available | No |
abbreviations: f—female, m—male, PHEO—pheochromocytoma, PGL—paraganglioma, ADR—adrenergic, NA—Noradrenergic, DA—Dopaminergic, meta—metachronous, syn—synchronous, mo—months, SSA—somatostatin analogs, TMZ—temozolomide, VUS—variant of unknown significance, EBRT—external beam radiation therapy, CVD—chemotherapeutic regimen cyclophosphamide-vincristine-dacarbazine. i PT ID is the patient identification number in the cohort. ii Age (d) is Age of PPGL diagnosis in years. iii Age (s) is Age at time of imaging scans in years. iv Biochemical elevation at time of Scans, with adrenergic, noradrenergic, and dopaminergic referring to elevations in epinephrine and/or metanephrine, norepinephrine and/or normetanephrine, and dopamine and/or 3-methoxytyramine, respectively. v Ki-67 is the cellular proliferative index staining on histopathology. vi Patient has synchronous metastases and did not have full body imaging until seen in our study.