Whole-Body MRI Screening for Carriers of Germline TP53 Mutations—A Systematic Review and Meta-Analysis
Abstract
:1. Introduction
2. Methods
2.1. Registration and Search Strategy
2.2. Inclusion/Exclusion Criteria
2.2.1. Inclusion Criteria
- (a)
- Report on patients with LFS who underwent WB-MRI radiological oncological screening.
- (b)
- Report on cancers picked up on WB-MRI.
- (c)
- Report with a well-defined research methodology.
2.2.2. Exclusion Criteria
- (a)
- Patients did not have a diagnosis of LFS.
- (b)
- Imaging was performed by another radiological modality, other than WB-MRI.
- (c)
- Outcomes of interest were not reported.
- (d)
- The methodology was not clearly reported.
2.3. Identification of Studies and Outcomes of Interest
- I.
- Population: LFS patients
- II.
- Intervention: LFS patient undergoing WB-MRI for cancer screening
- III.
- Comparison: asymptomatic non-LFS patients undergoing WB-MRI
- IV.
- Outcome:
2.4. Study Selection, Data Extraction and Critical Appraisal
2.5. Statistical Analysis
2.6. Risk of Bias
3. Results
3.1. Search Results
3.2. Patient Characteristics
3.3. MRI Protocols/Acquisition Parameters
3.4. Incidence of New Cancer
3.5. Risk of Bias
4. Discussion
Supplementary Materials
Author Contributions
Funding
Data Availability Statement
Conflicts of Interest
References
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Author | Year | Study Population | Country | Journal | Study Method | No. Patients | Age (Mean ± SD, Range) | Sex (M:F) | Previous Cancer | Primary Outcome |
---|---|---|---|---|---|---|---|---|---|---|
Anupindi [20] | 2015 | Children diagnosed with either Li-Fraumeni syndrome (LFS), hereditary paraganglioma-pheochromocytoma syndrome, or rhabdoid tumour syndrome | USA | American Journal of Roentgenology | Retrospective cohort | 24 | 10.7 (± 4.6, 2.1–18.2) | 6:18 | 7/24 (29%) | Identification of lesions suspicious for malignancy in asymptomatic TP53 pv carriers |
Saya [33] | 2017 | TP53 pathogenic variant carriers, and age- matched (±5 years) and sex-matched population controls. | UK | Familial Cancer | Prospective cohort | 88 (44 carrier and 44 control) | Carrier 38.1 (±11.3, 19–58) Control 39.4 (±10.7, 22–59) | Carrier 27:17, Control 27:17 | 18/44 (41%) | Identification of lesions suspicious for malignancy in asymptomatic TP53 pv carriers |
Bojadzieva [13] | 2017 | Adults and children with Li-Fraumeni Syndrome | USA | Familial Cancer | Prospective cohort | 63 (49 adults, 14 children). 53 underwent baseline WB-MRI, 35 underwent brain MRI only. | N/a | 18:45 | 43 (68%) | Identification of lesions suspicious for malignancy in asymptomatic TP53 pv carriers |
Mai [7] | 2017 | Patients with Li-Fraumeni syndrome aged 3 years or older at time of baseline screening and who had not received active cancer therapy at least 6 months prior to screening. | USA | JAMA Oncology | Prospective cohort | 116 | 38.5 (±17.9, 3–65) | 40:17 | 71/116 (61.2%) | Identification of lesions suspicious for malignancy in asymptomatic TP53 pv carriers |
O’Neill [36] | 2017 | Paediatric patients with TP53 germline mutation, prior cancer patients in stable remission for at least 6 months post treatment | USA | Paediatric blood cancer | Prospective cohort | 22 | 9.5 (±4.0, 1–15) | 10:12 | 5/22 (33%) | Identification of lesions suspicious for malignancy in asymptomatic TP53 pv carriers |
Paixiao [25] | 2018 | Patients with Li-Fraumeni syndrome (TP53 germline mutation) with no current disease | Brazil | Cancer Imaging | Prospective cohort | 59 | 38 ± 11.1 (2–71) | 24:35 | 27/59 (45%) | Identification of lesions suspicious for malignancy in asymptomatic TP53 pv carriers |
Omran [12] | 2019 | Adult patients recruited by SWEP53 study, with verified likely pathogenic (class 4) or pathogenic (class 5) TP 53 variants | Sweden | Cancer | Prospective cohort | 61 | 40 (±7.9, 18–74) | 21:39 | 32/61 (52%) | Identification of lesions suspicious for malignancy in asymptomatic TP53 pv carriers |
Kagami [34] | 2023 | Adults and children with Li-Fraumeni Syndrome | USA | American Association for Cancer Research | Retrospective cohort | 118 (68 adult, 50 children) | N/a | 41:18 | 64/118 (54%)—total 50/68 (74%)—adult 14/50 (28%)—paediatric | Radiological findings leading to follow-up imaging or intervention in asymptomatic TP53 pv carriers |
Author | Scanning Time (minutes) | Identical WB-MRI Protocol in All Subjects (Y/N) | MRI Interpreter (Number of Rads/Level/Experience) | Phase | Model | Field Strength | FOV | TR/TE (ms) | ST (mm) | Matrix | Contrast |
---|---|---|---|---|---|---|---|---|---|---|---|
Anupindi [20] | 39–150 min (range) | No | Two board certified radiologists with at least 5 year’s paediatric full body MRI experience | coronal STIR, coronal T1-weighted, axial STIR, and axial T2-weighted fat-suppressed sequences (protocol changed during study) | Avanto or Symphony, Siemens Healthcare (n = 30/50 scans) Skyra, Verio, or Trio, Siemens Health-care) (20/50 scans) | 1.5 T (30/50 scans), 3T (20/50 Scans) | Variable based on patient size | 1.5 T Coronal STIR 2800–6371/33–70, Coronal T1-weighted 100–1610/10–12, Axial STIR 4000–9830/32–65, Axial T2-weighted fast suppressed 2500–13177/71–105, Coronal HASTE 900/82–86, Axial HASTE 900/79–85, Sagittal HASTE 900/83–87 3 T Coronal STIR 2900–5050/30–41, Coronal T1-weighted 480–820/9–10, Axial STIR 2500–9860/27–38, Axial T2 weighted fast suppressed 4240–17264/77–113, Coronal HASTE 1000/83–87, Axial HASTE 1230/87, Sagittal HASTE 1000/87 | 1.5 T Coronal STIR 4–6.6, Coronal T1-weighted 4–6.6, Axial STIR 4–8, Axial T2-weighted fast suppressed 4–8, Coronal HASTE 6–7, Axial HASTE 8–10, Sagittal HASTE 7–10 3 T Coronal STIR 4–5.5, Coronal T1-weighted 4–5.5, Axial STIR 4–7, Axial T2-weighted fast suppressed 4–7, Coronal HASTE 8–20, Axial HASTE 8, Sagittal HASTE 8.8 | 1.5 T Coronal STIR 256 × 256, Coronal T1-weighted 320 × 256, Axial STIR 256 × 256, Axial T2-weighted fast suppressed 320 × 320, Coronal HASTE 256 × 243, Axial HASTE 256 × 243, Sagittal HASTE 256 × 243 3 T Coronal STIR 256 × 256, Coronal T1-weighted 384 × 288, Axial STIR 256 × 256, Axial T2-weighted fast suppressed 320 × 320, Coronal HASTE 256 × 256, Axial HASTE 256 × 256, Sagittal HASTE 256 × 192 | No |
Saya [33] | / | Yes | Two independent radiologist with at least 5 years’ experience | Axial T1-weighted gradient echo, axial fat-suppressed T2-weighted HASTE, axial DWIBS whole body, coronal T1-weighted VIBE DIXON | 1.5 T MRI machine (Siemens, Erlangen, Germany) | 1.5 T | 38–40 cm | Axial T1-weighted gradient echo 247/4.36, axial fat-suppressed T2-weighted HASTE 1000/84, axial DWIBS whole body 8600/72, coronal T1-weighted VIBE DIXON 6.97/2.39 | Axial T1-weighted gradient echo 8, axial fat-suppressed T2-weighted HASTE 8, axial DWIBS whole-body 8, coronal T1-weighted VIBE DIXON 5 | Axial T1 weighted gradient echo 182 × 320, axial fat-suppressed T2-weighted HASTE 208 × 256, axial DWIBS whole-body 128 × 128, coronal T1-weighted VIBE DIXON 192 × 192 | No |
Bojadzieva [13] | / | Yes | All scans reviewed by primary author, lesions reviewed by diagnostic radiologist | WB-MRI—Scout, DWI, T2 TIRM, T1FS Post VIBE, T1FS Post. Brain MRI—DWI, T2, FLAIR, T2, T1, T1 Post | WB-MRI—Siemens Aera 1.5T, brain MRI—GE SIgna HD 1.5T, Siemens Aera 1.5T | 1.5T | WB-MRI—([45 cm × 45 cm for Scout, DWI, T2 TIRM], [24 cm × 24 cm for T1FS post VIBE head, 44cm × 44 cm for T1FS post VIBE chest to pelvis, 38cm × 38 cm for T1FS post VIBE thighs to toes], [34cm × 34 cm for T1FS post]). Brain MRI—22 cm for all sequence except for 24 cm for T1 post sagittal view. | WB-MRI TR—1500, 8300, 5130 (H&N) 3000 (ch/ab) 5500 (pel-toes), 12, 4.09 (ch) 4.38 (ab) 4.51 (pel), 4.51, <500 for Scout, DWI, T2 TIRM, T1FS Post VIBE, T1FS Post, respectively. Brain MRI TR- 8000, 3600–4400, 10000, 675–825, 500–600, 500–600 for DWI, T2, FLAIR, T2, T1, T1 Post, respectively | WBMRI—6, 5, 6 (chest/ab) 5 (others), 5, 5, 5, 4 for Scout, DWI, T2 TIRM, T1FS Post VIBE, T1FS Post, respectively. Brain MRI—5 for all phases. | WBMRI—320 × 256 160 × 108 384 × 207 256 × 192 384 × 171 288 × 132 320 × 256 for Scout DWI T2 TIRM T1FS Post VIBE (ch, abd, pelv) T1FS Post, respectively. Brain MRI—128 × 128 320 × 224 256 × 192 256 × 192 256 × 192 256 × 192 256 × 192 256 × 192 for DWI, T2, FLAIR T2, T T1 Post, respectively. | Yes |
Mai [35] | 45 min (mean) | No | / | Cor STIR, Cor 3D T1, Ax STIR | - | - | N/a | TR—3750, 6.36, 4990 for Cor STIR, Cor 3D T1, Ax STIR, respectively. TE—60, 4.77, 61 for Cor STIR, Cor 3D T1, Ax STIR, respectively | N/a | N/a | Yes |
O’Neill [36] | 60–90 min (range) | Yes | Neuroradiology for brain, body radiologist for body, study radiologist independently reviewed all scans for accurate representation | N/a | - | 3T | N/a | N/a | N/a | N/a | No |
Paixiao [25] | 25–35 min (range) | Yes | Experienced radiologists | Coronal T1 weighted, short TI inversion recovery, axial diffusion weighted | Signa Excite HT | 1.5T | N/a | N/a | N/a | N/a | No |
Omran [12] | / | Yes | Two consultant radiologist | SSFSE/Haste Fat ST T2, DIXON T1, T2/EPI b50_400_800 | 1.5T Siemens | 1.5T | 400 × 275, 416/315, 420/338 | 1000/82, 165/60, 5600/60 | Five for all three phases | 256/123, 256/134, 192/156 | No |
Kagami [34] | / | No | / | Adult—T2-weighted imaging with and without fat suppression using HASTE technique, whole-body diffusion-weighted imaging (DWI), and pre and post-T1 weighted imaging using DIXON technique. Children—short tau inversion recovery (STIR) or T2-weighted fat sup-pressed images and T1-weighted images. | 1.5T scanner (Aera, Sola, and Espree, Siemens Healthcare) for adults, WB-MRI examinations were per-formed on a 1.5-Tesla or a 3.0-Tesla scanner (Siemens Health) for children | 1.5T (adult), 1.5T or 3T (children) | N/a | N/a | N/a | N/a | No |
Author | Patients with Subsequent Cancer on MRI | Location of Lesion (Multiple Lesions Found in Some Patients) | Critical Findings | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Abdomen | Pelvis | Chest | Head | Neck | LL | UL | Spine | Breast | Other | ||||
No. | % | ||||||||||||
Anupindi [20] | 1 | 4 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | Sensitivity of WB-MRI—100% Specificity of WB-MRI—94% PPV of WB-MRI—25% NPV of WB-MRI—100% |
Saya [33] | 6 | 13.6 | 2 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 1 | 6/44 (13.6, 95% CI 5.2–27.4%) of the participants were diagnosed with cancer during the study. |
Bojadzieva [13] | 6 | 9.5 | 3 | 0 | 0 | 0 | 2 | 0 | 1 | 0 | 0 | 0 | Screening WB-WRI in 6/63 (9.5%) of patients supports the inclusion of WB-MRI and brain MRI in the clinical management of individuals with LFS. |
Mai [35] | 5 | 4.3 | 0 | 0 | 4 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | Abnormal MRI findings requiring additional follow-up were identified in 32/116 WB-MRIs (27.5%). In total, 27/32 (84.4%) of the abnormal WB-MRIs required follow-up, including two site-specific biopsies, with results showing benign or normal findings. |
O’Neill [36] | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | In total, 89% patients returned for second examinations (95% CI—67–99%). Considered successful feasibility study as upper bound of 95% Confidence Interval of success is ≥90%. |
Paixiao [25] | 3 | 5 | 2 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1st round of WB-MRI—positive rate 11.8%, recall rate 11.8%, invasive investigation rate 3.4%, cancer detection rate 3.4%, execution success 95%. 2nd round of WB-MRI—positive rate 6.7%, recall rate 6.7%, cancer detection rate 1.7%, success rate 100% |
Omran [12] | 3 | 5 | 4 | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | In total, 30 new lesions were identified by WB-MRI in 19 individuals (31%) requiring follow up; 9 of the 30 were malignant, in 3 patients. One was recurrence, one was new disease, and one was disseminated disease. All were asymptomatic |
Kagami [34] | 12 | 10.2 | 5 | 2 | 1 | 2 | 0 | 2 | 0 | 0 | 1 | 0 | The most frequent intervention recommended after initial screening was short-term follow-up imaging (adults, 81%,pediatric, 60%), followed by immediate imaging (adults, 19%, paediatric, 40%). None of the adult cohort and one child in the paediatric cohort were recommended for invasive interventions after the initial screening, while three adults (3/68, 4.4%) and six children (6/50, 12%) were recommended for invasive interventions after subsequent screening. |
Author | Cancer Location | Initial/Subsequent MRI | ||
---|---|---|---|---|
Omran [12] | 1—Pleura, cervical LN 2—Mediastinal LN, pleura, liver, intraabdominal LN 3—Liver, intra-abdominal LN | 1—Initial WBI MRI 2—Initial WB-MRI 3—Initial WB-MRI | ||
Paixiao [25] | 1—Renal cell carcinoma (right and left kidney) 2—Grade 1 chondrosarcoma (left SI joint) 3—High-grade sarcoma with muscle differentiation (right humerus) | 1—Initial WBI MRI 2—Initial WB-MRI 3—Subsequent WB-MRI | ||
O’Neill [36] | No new cancers identified | - | ||
Mai [35] | 1—Lung adenocarcinoma 2—Lung adenocarcinoma 3—Intermediate grade sarcoma in left 4th rib 4—Low-grade spindle cell sarcoma on left chest skin biopsy 5—Brain cancer—astrocytoma frontal lobe | Not specified | ||
Kagami [34] | Adults 1—RCC 2× primaries 2—Infiltrating ductal carcinoma 3—Lung adenocarcinoma 4—Endocervical adenocarcinoma 5—Leiomyosarcoma | Paediatric 1—Colorectal adenocarcinoma 2—Rhabdomyosarcoma 3—Atypical astrocytoma 4—Colonic adenocarcinoma 5—Pancreatic NET 6—Osteosarcoma 7—High-grade astrocytoma | Adults 1—Initial WB-MRI 2—Subsequent WB-MRI 3—Subsequent WB-MRI 4—Subsequent WB-MRI 5—Initial WB-MRI | Paediatric 1—Subsequent WB-MRI 2—Initial WB-MRI 3—Subsequent WB-MRI 4—Subsequent WB-MRI 5—Subsequent WB-MRI 6—Subsequent WB-MRI 7—Initial WB-MRI |
Bojadzieva [13] | 1—Recurrent soft tissue sarcoma, new primary abdominal soft tissue sarcoma 2—Sarcoma metastasis 3—Papillary thyroid cancer 4—Gastric cancer 5—Bilateral thyroid cysts not significant on WB-MRI, latera shown to be thyroid cancer 6—Shoulder lesion, excision showed liposarcoma | Not specified | ||
Saya [33] | 1—Low-grade astrocytoma 2—Low-grade myxosarcoma in abdominal wall 3—Renal cell carcinoma, leiomyosarcoma 4—Chondroblastic osteosarcoma 5—Pericardial cyst on WB-MRI—diagnosed as mediastinal sarcoma 6—B cell acute lymphoma | 1—Initial WB-MRI 2—Initial WB-MRI 3—Initial WB-MRI 4—Initial WB-MRI 5—Initial WB-MRI 6—Initial WB-MRI | ||
Anupindi [20] | 1—Papillary thyroid carcinoma | 1—Initial WB-MRI |
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Temperley, H.C.; O’Sullivan, N.J.; Mac Curtain, B.M.; Qian, W.; Temperley, T.S.; Murray, A.; Corr, A.; Brennan, I.; Gallagher, D.; Meaney, J.F.; et al. Whole-Body MRI Screening for Carriers of Germline TP53 Mutations—A Systematic Review and Meta-Analysis. J. Clin. Med. 2024, 13, 1223. https://doi.org/10.3390/jcm13051223
Temperley HC, O’Sullivan NJ, Mac Curtain BM, Qian W, Temperley TS, Murray A, Corr A, Brennan I, Gallagher D, Meaney JF, et al. Whole-Body MRI Screening for Carriers of Germline TP53 Mutations—A Systematic Review and Meta-Analysis. Journal of Clinical Medicine. 2024; 13(5):1223. https://doi.org/10.3390/jcm13051223
Chicago/Turabian StyleTemperley, Hugo C., Niall J. O’Sullivan, Benjamin M. Mac Curtain, Wanyang Qian, Tatiana S. Temperley, Alannah Murray, Alison Corr, Ian Brennan, David Gallagher, James F. Meaney, and et al. 2024. "Whole-Body MRI Screening for Carriers of Germline TP53 Mutations—A Systematic Review and Meta-Analysis" Journal of Clinical Medicine 13, no. 5: 1223. https://doi.org/10.3390/jcm13051223