Role of imaging in the diagnosis and management of complete androgen insensitivity syndrome in adults

Complete androgen insensitivity syndrome is an X-linked recessive androgen receptor disorder characterized by a female phenotype with an XY karyotype. Individuals affected by this syndrome have normal female external genitalia but agenesis of the Müllerian duct derivatives, that is, absence of the Fallopian tubes, uterus, cervix, and the proximal part of the vagina, with presence of endoabdominal, labial, or inguinal testes. The estimated prevalence is between 1 and 5 in 100,000 genetic males. Complete androgen insensitivity syndrome can be diagnosed as a result of mismatch between the prenatal sex prediction and the phenotype at birth, can be detected by chance, or remain undetected until investigations for primary amenorrhea. Imaging can be important both to diagnose the pathology and to localize gonads prior to surgical treatment. In this paper, we present three cases of complete androgen insensitivity syndrome in adult women of 34, 22, and 38 years old

The primacy of multiparametric MRI in men with suspected prostate cancer

Background: Multiparametric MRI (mpMRI) became recognised in investigating those with suspected prostate cancer between 2010 and 2012; in the USA, the preventative task force moratorium on PSA screening was a strong catalyst. In a few short years, it has been adopted into daily urological and oncological practice. The pace of clinical uptake, born along by countless papers proclaiming high accuracy in detecting clinically significant prostate cancer, has sparked much debate about the timing of mpMRI within the traditional biopsy-driven clinical pathways. There are strongly held opposing views on using mpMRI as a triage test regarding the need for biopsy and/or guiding the biopsy pattern. Objective: To review the evidence base and present a position paper on the role of mpMRI in the diagnosis and management of prostate cancer. Methods: A subgroup of experts from the ESUR Prostate MRI Working Group conducted literature review and face to face and electronic exchanges to draw up a position statement. Results: This paper considers diagnostic strategies for clinically significant prostate cancer; current national and international guidance; the impact of pre-biopsy mpMRI in detection of clinically significant and clinically insignificant neoplasms; the impact of pre-biopsy mpMRI on biopsy strategies and targeting; the notion of mpMRI within a wider risk evaluation on a patient by patient basis; the problems that beset mpMRI including inter-observer variability. Conclusions: The paper concludes with a set of suggestions for using mpMRI to influence who to biopsy and who not to biopsy at diagnosis. Key Points: • Adopt mpMRI as the first, and primary, investigation in the workup of men with suspected prostate cancer. • PI-RADS assessment categories 1 and 2 have a high negative predictive value in excluding significant disease, and systematic biopsy may be postponed, especially in men with low-risk of disease following additional risk stratification. • PI-RADS assessment category lesions 4 and 5 should be targeted; PI-RADS assessment category lesion 3 may be biopsied as a target, as part of systematic biopsies or may be observed depending on risk stratification

Clinical Results after High-Dose Intensity-Modulated Radiotherapy for High-Risk Prostate Cancer

Purpose. Patients with high-risk prostate cancer (PC) can be treated with high-dose intensity-modulated radiotherapy (IMRT) and long-term androgen deprivation (AD). In this paper we report on (i) late toxicity and (ii) biochemical (bRFS) and clinical relapse-free survival (cRFS) of this combined treatment. Methods. 126 patients with high-risk PC (T3-4 or PSA >20 ng/mL or Gleason 8–10) and ≥24 months of followup were treated with high-dose IMRT and AD. Late toxicity was recorded. Biochemical relapse was defined as PSA nadir +2 ng/mL. Clinical relapse was defined as local failure or metastases. Results. The incidence of late grade 3 gastrointestinal and genitourinary toxicity was 2 and 6%, respectively. Five-year bRFS and cRFS were 73% and 86% respectively. AD was a significant predictor of bRFS (P = 0.001) and cRFS (P = 0.01). Conclusion. High-dose IMRT and AD for high-risk PC offers excellent biochemical and clinical control with low toxicity

Comparison of the Prostate Imaging Reporting and Data System (PI-RADS) version 1 and 2 in a cohort of 245 patients with histopathological reference and long-term follow-up

Objective: To compare the performance of PI-RADSv2 with PI-RADSv1 in patients with elevated PSA before biopsy. Methods: 245 patients with elevated PSA underwent mpMRI before biopsy between May 2011 and December 2014 at 3.0 Tesla without endorectal coil. Patients underwent transrectal ultrasound-guided systematic 12-core biopsy followed by radical prostatectomy (N = 68), radiation therapy (N = 91) or clinical follow-up for at least two years (N = 86). All exams were scored on a per-patient basis according to PI-RADSv1 and PI-RADSv2. ClinsigPC was defined as Gleason score >= 7 (including 3+4 with prominent but not predominant Gleason 4 component), and/or tumour volume of >= 0.5cc, and/or tumour stage >= T3a. Results: In 144 patients (58.8%) a ClinsigPC was found within two years after mpMRI. The PI-RADSv1 and PI-RADSv2 overall assessment scores were significantly higher (P < 0.001) in patients with ClinsigPC as compared to patients without ClinsigPC. ROC analysis showed an area under the curve of 0.82 (CI 0.76-0.87) for PI-RADSv1 and 0.79 (CI 0.73-0.85) for PI-RADSv2 (P: NS). A threshold score of 3 exhibited sensitivities of 88.2% and 79.2% (P = 0.001) and specificities of 64.4% and 67.3% (P: NS) with PI-RADSv1 and PI-RADSv2, respectively. Conclusions: The mpMRI scoring systems PI-RADSv1 and PI-RADSv2 yield similar accuracy to detect ClinsigPC in patients with elevated PSA, although clinicians should be aware that when an overall assessment score of 3 is used as a threshold for a positive mpMRI, PI-RADSv2 has lower sensitivity than PI-RADSv1. Nevertheless, PI-RADSv2 is preferable over PI-RADSv1 because it has the advantage of providing well-defined instructions on how to determine the overall assessment category