Purpose
To present the progresses of hybrid
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F-FDG PET/MR imaging in the staging/restaging setting of endometrial cancer (EC), with particular focus on performance evaluations and biomarker ...analyses.
Methods
Original articles were searched on PubMed, EMBASE and Web of Science, until March 2021. Reports were screened to select studies using simultaneous PET/MR acquisition, discarding those using sequential protocols. Studies including heterogeneous and/or homogeneous cohorts of pelvic tumor patients were considered, while works for which the exact number of EC patients was not reported have been discarded. Evaluations of selected articles were focused on (i) performance evaluation, (ii) biomarker analysis. The quality of papers was assessed by QUADAS-2.
Results
Eleven articles involving
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F-FDG PET/MRI EC-related objectives were selected. The quality of papers was generally high. Compared to other imaging techniques, PET/MRI seems to show a higher diagnostic accuracy in detecting soft tissue invasion and abdominopelvic metastases from primary EC. Among different PET- and MRI-derived biomarkers, SUV-to-ADC ratio seems to be the most informative index in differentiating EC aggressiveness. Moreover, PET/MRI provided the chance to differentiate post-therapeutic changes from local relapse, and to detect small, morphologically unsuspicious lymph node metastases in patients with recurrent EC, with better performances compared to other imaging modalities.
Conclusions
Preliminary results demonstrated how
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F-FDG PET/MRI could be a valid imaging technique in patients with EC, both in staging and restaging, also considering the limited radiation exposure. From the limited availability of the existing literature, it is clear that further prospective trials on larger and homogeneous cohorts are needed.
The assessment of deep myometrial invasion (MI) and lymph node involvement is of utmost importance in the preoperative staging of endometrial cancer (EC). Imaging parameters derived respectively from ...MRI and PET have shown good predictive value. The main aim of the present study is to assess the diagnostic performance of hybrid 18F-FDG PET/MRI in EC staging, with particular focus on MI and lymphnodal involvement detection.
Prospective monocentric study including 35 patients with biopsy-proven EC undergoing preoperative 18F-FDG PET/MRI (December 2018-March 2021) for staging purpose. Histological examination was the reference standard. PET (SUVmax, SUVmean with a threshold of 40% of SUVmax-SUVmean40, metabolic tumor volume, total lesion glycolysis) and MRI (volume index VI, total tumor volume, tumor volume ratio TVR, mean apparent diffusion coefficient, minimum apparent diffusion coefficient) parameters were calculated on the primary tumor, and their role in predicting EC risk group, the presence of lymphovascular space invasion (LVSI), and MI was assessed. Receiver operating characteristics analysis was used to assess the predictive value of PET and MRI parameters on EC characteristics.
Patients' median age was 66.57 years (SD, 10.21 years). 18F-FDG PET/MRI identified the primary tumor in all patients. Twenty-two of 35 patients had high-risk EC and 13/35 low-risk disease; 13/35 presented LVSI, 22/35 had deep MI at histological examination, and 13/35 had p53 hyperexpression.PET/MRI was able to detect lymphnodal involvement with high accuracy and high specificity (sensitivity of 0.8571, specificity of 0.9286, accuracy of 0.9143), also showing a high negative predictive value (NPV) for lymphnodal involvement (NPV of 0.9630, positive predictive value PPV of 0.7500).The assessment of deep MI using PET/MRI correctly staged 27 patients (77.1%; sensitivity of 0.7273, specificity of 0.8462, accuracy of 0.7714), with also a good PPV (PPV of 0.8889, NPV of 0.647).MRI-derived total tumor volume, VI, and TVR were significant in predicting EC groups (high-risk vs low-risk patients) (P = 0.0059, 0.0235, 0.0181, respectively). MRI-derived volume, VI, TVR, and PET-derived metabolic tumor volume and total lesion glycolysis were able to predict LVSI (P = 0.0023, 0.0068, 0.0068, 0.0027, 0.01394, respectively). Imaging was not able to predict grading, presence of deep MI, nor hyperexpression of p53.
18F-FDG PET/MRI has good accuracy in preoperative staging of EC; PET and MRI parameters have synergic role in preoperatively predicting LVSI, with MRI parameters being also predictive for EC risk group.
Heterozygous de novo mutations in SOX2 have been reported in approximately 10–20% of patients with unilateral or bilateral anophthalmia or microphthalmia. An additional phenotype of hypopituitarism, ...with anterior pituitary hypoplasia and hypogonadotropic hypogonadism, has been reported in patients carrying SOX2 alterations. We report a novel heterozygous mutation in the SOX2 gene in a male affected with congenital bilateral anophthalmia, hypogonadotrophic hypogonadism and growth hormone deficiency. The mutation we describe is a cytosine deletion in position 905 (c905delC) which causes frameshift and an aberrant C-terminal domain. Our report highlights the fact that subjects affected with eye anomalies and harboring SOX2 mutations are at high risk for gonadotropin deficiency, which has important implications for their clinical management.
•We report a novel case of SOX2 mutation in congenital bilateral anophthalmia.•Subjects with eye anomalies and SOX2 mutations have often gonadotropin deficiency.•Follow-up of these patients is necessary to prompt treatment of sexual deficiency.
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