Table 3.
Cancer diagnoses in participants
| Pt | Sex | Age | Mutation | Abnormality (score) seen on WB MRI | Further investigations | Cancer | Treatment |
|---|---|---|---|---|---|---|---|
| 1 | F | 33 | c.455C > T p.Pro152Leu |
Right temporal lobe cyst (4) | Dedicated brain MRI with contrast | Astrocytoma | Complete resection |
| 2 | F | 51 | c.659A > G p.Tyr220Cys |
Left lateral abdominal wall mass—probable sarcoma (4) | US guided biopsy | Myxosarcoma | Complete resection |
| 3 | F | 45 | c.586C > T p.Arg196Ter |
Suspicious right renal mass (4) | Abdominal CT, nephrectomy | Chromophobe renal cell carcinoma | Complete resection |
| Uterine fibroids (2) | Pelvic MRI, TAH | Leiomyosarcoma | |||||
| 4 | F | 24 | c.844C > T p.Arg282Trp |
Liver lesion, possible focal nodular hyperplasia or hepatic adenoma (3) | 1. Dedicated renal and liver MRI with contrast. Suspected sarcomas, nephrectomy and partial hepatectomy | 1. Renal EAML Liver EAML |
1. Complete resection of both tumours |
| Right kidney lesion, possible complex renal cyst or solid lesion (3) | 2. Follow-up pelvic MRIs for EAMLs detected progressive changes in sacro-iliac joint | 2. Sacro-iliac osteosarcoma | 2. MAP chemotherapy completed; surgery advised but patient pursuing proton beam therapy in USA | ||||
| 5 | F | 48 | c.916C > T p.Arg306Ter |
Pericardial cyst (1) | Nil Non study MRI and PET revealed a 12.6 cm hilar mass with small left pleural effusion |
Mediastinal liposarcoma grade 3 | Resection with microscopic positive margins (0/8 lymph nodes involved) and chemotherapy |
| 6 | M | 27 | c.818G > A p.Arg273His |
Nil | N/A | Diagnosed with B ALL (not seen on WB MRI) | Chemotherapy |
EAML Epithelioid angiomyolipoma, MAP methotrexate, doxorubicin and cisplatin, TAH total abdominal hysterectomy