Table 2 Further investigation of the positive cases identified in the first and second-round of WB-MRI screenings
Patient ID no. | M/F | Age (y) | TP53 mutation | WB-MRI findings | Further exams | Imaging diagnosis | Invasive exams | Cancer diagnosis |
|---|---|---|---|---|---|---|---|---|
Y0012T044 | F | 40 | p.R337H | Hyposignal area on T1, high signal focuses on STIR in left humeral head, nonspecific aspect. | Shoulder MRI | Vascular ectasia | No | No |
Y0012T049 | F | 61 | p.R337H | Rounded image in distal metaphyseal region of the right femur (2.2 cm) with hyposignal on T1 and hypersignal on STIR. | Leg MRI | Lobulated image in right femur compatible with enchondroma | No | No |
Y0079T016 | F | 41 | p.T125T | Sacral nodule (20 mm), nonspecific, | Lumbosacral spine CT | Enostoses | No | No |
Y0099T001 | F | 34 | p.R337H | Nodular area (17 mm) in the retroperitoneum, adjacent to pancreatic cephalic region. | Abdominal MRI | Unilocular pancreatic cyst | No | No |
Y0102T000 | F | 17 | p.R337H | Oval images in renal cortical, 16 mm in the lower pole of the right kidney and 20 mm in the upper pole of the left kidney. | Abdominal/ Pelvis MRI | Nodule with irregular borders and heterogeneous signal, predominantly high in T1 and intermediate in T2, with restrictions on diffusion sequence. Approximately, 23 × 18 × 18 mm3 in right kidney | Surgical resection | Renal cell carcinoma |
Y0183T001 | M | 19 | p.T125T | Image on the left lenticular nucleus, 8 mm. | Brain MRI | Cystic image in the left putamen, compatible with Virchow-Robin space | No | No |
Y0352T000 | F | 29 | p.R306X | Nodule 35 × 28 mm2 at the left sacroiliac joint. | Pelvis MRI | Solid mass lesion 43 × 34 × 30 mm3, located in the posterior-inferior region of the left sacroiliac joint, with bone cortical irregularity in the sacral margin | Surgical resection | Grade 1 chondrosarcoma |
Y0102T000 | F | 18 | p.R337H | Nodule in the right adrenal gland with hypointense signal on T1, hyperintense signal on STIR, and diffusion sequence. Measures 15 mm, indeterminate aspect. | Abdominal MRI | Nodule in the right adrenal gland, non-aggressive features | No | No |
Y0015T011 | M | 34 | p.R337H | Images in humeral heads with hypointense signal on T1 and hyperintense signal on STIR, measuring up to 9 mm, suggestive of subchondral cysts. | Shoulder MRI, CT and scintigraphy | Radiolucent oval image in the scapular region with non-aggressive features, slight increase in bone metabolism, no change in blood flow, suggestive of cystic lesion or enchondroma | No | No |
Y0012T012 | M | 61 | p. R337H | Expansive lesion in the right humerus, measuring 48 × 34 mm2, with isosignal to muscle on T1, hyperintense signal on STIR, and restriction on diffusion sequence. | Shoulder MRI | Expansive lesion in the right axillary region, next to the distal roots of the brachial plexus, measuring 32 × 22 mm2, with hypointense signal on T1, hyperintense signal on STIR, suggestive of malignancy of neural sheath or soft tissue sarcoma | Biopsy (axilar lymph node) | High-grade sarcoma with muscle differen- tiation |
Y0171T005 | M | 47 | p. R337H | Subcutaneous nodule on the left shoulder. | Shoulder ultrasound | Echogenic nodule in the subcutaneous tissue of the left shoulder, measuring 65 × 57 × 12 mm3, characteristics of lipoma | No | No |