MRI Screening Research Articles

Abbreviated Breast MRI for Supplemental Screening in Patients With Dense Breasts: Comparison of Baseline Versus Subsequent-Round Examinations.

BACKGROUND. Abbreviated breast MRI (AB-MRI) achieves a higher cancer detection rate (CDR) than digital breast tomosynthesis when applied for baseline (i.e., first-round) supplemental screening of individuals with dense breasts. Limited literature has evaluated subsequent (i.e., sequential) AB-MRI screening rounds. OBJECTIVE. This study aimed to compare outcomes between baseline and subsequent rounds of screening AB-MRI in individuals with dense breasts who otherwise had an average risk for breast cancer. METHODS. This retrospective study included patients with dense breasts who otherwise had an average risk for breast cancer and underwent AB-MRI for supplemental screening between December 20, 2016, and May 10, 2023. The clinical interpretations and results of recommended biopsies for AB-MRI examinations were extracted from the EMR. Baseline and subsequent-round AB-MRI examinations were compared. RESULTS. The final sample included 2585 AB-MRI examinations (2007 baseline and 578 subsequent-round examinations) performed for supplemental screening of 2007 women (mean age, 57.1 years old) with dense breasts. Of 2007 baseline examinations, 1658 (82.6%) were assessed as BI-RADS category 1 or 2, 171 (8.5%) as BI-RADS category 3, and 178 (8.9%) as BI-RADS category 4 or 5. Of 578 subsequent-round examinations, 533 (92.2%) were assessed as BI-RADS category 1 or 2, 20 (3.5%) as BI-RADS category 3, and 25 (4.3%) as BI-RADS category 4 or 5 (p < .001). The abnormal interpretation rate (AIR) was 17.4% (349/2007) for baseline examinations versus 7.8% (45/578) for subsequent-round examinations (p < .001). For baseline examinations, PPV2 was 21.3% (38/178), PPV3 was 26.6% (38/143), and the CDR was 18.9 cancers per 1000 examinations (38/2007). For subsequent-round examinations, PPV2 was 28.0% (7/25) (p = .45), PPV3 was 29.2% (7/24) (p = .81), and the CDR was 12.1 cancers per 1000 examinations (7/578) (p = .37). All 45 cancers diagnosed by baseline or subsequent-round AB-MRI were stage 0 or 1. Seven cancers diagnosed by subsequent-round AB-MRI had a mean interval of 872 ± 373 (SD) days since prior AB-MRI and node-negative status at surgical axillary evaluation; six had an invasive component, all measuring 1.2 cm or less. CONCLUSION. Subsequent rounds of AB-MRI screening of individuals with dense breasts had lower AIR than baseline examinations while maintaining a high CDR. All cancers detected by subsequent-round examinations were early-stage node-negative cancers. CLINICAL IMPACT. The findings support sequential AB-MRI for supplemental screening in individuals with dense breasts. Further investigations are warranted to optimize the screening interval.

Well controlled maternal inflammatory bowel disease does not increase the risk of abnormal neurocognitive outcome screening in offspring

BackgroundExposure to maternal inflammation is associated with an increased risk of neurocognitive and developmental disorders in offspring. Early diagnosis and intervention improves childhood motor and cognitive functioning. Neonatal cerebral MRI and remote app-based generalised movement assessments (GMAs) are both predictive of adverse neurocognitive outcomes but have only been used in infants at significantly increased risk for these outcomes, rather than following in utero exposure to maternal inflammatory disorders. MethodsPregnant women with inflammatory bowel disease were assessed clinically and biochemically in each trimester of pregnancy in this single centre prospective study. Neonatal cerebral MRIs were performed at 6–12 weeks post-corrected term. Two GMA videos were filmed using the ‘BabyMoves’ app from 12 to 16 weeks of age. MRIs and GMAs were assessed by a blinded highly qualified practitioner using validated scoring systems. Results40/53 of invited maternal-infant dyads were recruited. C-reactive protein was elevated antenatally in less than 13%. 5/37 neonatal MRIs had incidental or obstetric trauma related gross anatomical abnormalities, with none abnormal on validated gross abnormality scoring. 3/35 GMAs were abnormal, with one GMA abnormality being clinically significant. Of those with abnormal GMAs, 2/3 were in exposed to severely active IBD in-utero. ConclusionNeonatal cerebral MRI and GMA for neurocognitive screening is feasible in the setting of maternal inflammatory bowel disease, where the risk of cerebral palsy is poorly defined and thus burdensome screening interventions are less appealing to parents. Larger studies are required to stratify adverse neurocognitive outcome risk in infants born to women with maternal inflammatory disorders, but these data are reassuring for women with IBD in remission antenatally.

Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism

BackgroundAs one of the most common congenital abnormalities in male births, cryptorchidism has been found to have a polygenic aetiology according to previous studies of common variants. However, little is...

Present and future of whole-body MRI in metastatic disease and myeloma: how and why you will do it.

Metastatic disease and myeloma present unique diagnostic challenges due to their multifocal nature. Accurate detection and staging are critical for determining appropriate treatment. Bone scintigraphy, skeletal radiographs and CT have long been the mainstay for the assessment of these diseases, but have limitations, including reduced sensitivity and radiation exposure. Whole-body MRI has emerged as a highly sensitive and radiation-free alternative imaging modality. Initially developed for skeletal screening, it has extended tumor screening to all organs, providing morphological and physiological information on tumor tissue. Along with PET/CT, whole-body MRI is now accepted for staging and response assessment in many malignancies. It is the first choice in an ever increasing number of cancers (such as myeloma, lobular breast cancer, advanced prostate cancer, myxoid liposarcoma, bone sarcoma, …). It has also been validated as the method of choice for cancer screening in patients with a predisposition to cancer and for staging cancers observed during pregnancy. The current and future challenges for WB-MRI are its availability facing this number of indications, and its acceptance by patients, radiologists and health authorities. Guidelines have been developed to optimize image acquisition and reading, assessment of lesion response to treatment, and to adapt examination designs to specific cancers. The implementation of 3D acquisition, Dixon method, and deep learning-based image optimization further improve the diagnostic performance of the technique and reduce examination durations. Whole-body MRI screening is feasible in less than 30min. This article reviews validated indications, recent developments, growing acceptance, and future perspectives of whole-body MRI.

AI-based selection of individuals for supplemental MRI in population-based breast cancer screening: the randomized ScreenTrustMRI trial

Screening mammography reduces breast cancer mortality, but studies analyzing interval cancers diagnosed after negative screens have shown that many cancers are missed. Supplemental screening using magnetic resonance imaging (MRI) can reduce the number of missed cancers. However, as qualified MRI staff are lacking, the equipment is expensive to purchase and cost-effectiveness for screening may not be convincing, the utilization of MRI is currently limited. An effective method for triaging individuals to supplemental MRI screening is therefore needed. We conducted a randomized clinical trial, ScreenTrustMRI, using a recently developed artificial intelligence (AI) tool to score each mammogram. We offered trial participation to individuals with a negative screening mammogram and a high AI score (top 6.9%). Upon agreeing to participate, individuals were assigned randomly to one of two groups: those receiving supplemental MRI and those not receiving MRI. The primary endpoint of ScreenTrustMRI is advanced breast cancer defined as either interval cancer, invasive component larger than 15 mm or lymph node positive cancer, based on a 27-month follow-up time from the initial screening. Secondary endpoints, prespecified in the study protocol to be reported before the primary outcome, include cancer detected by supplemental MRI, which is the focus of the current paper. Compared with traditional breast density measures used in a previous clinical trial, the current AI method was nearly four times more efficient in terms of cancers detected per 1,000 MRI examinations (64 versus 16.5). Most additional cancers detected were invasive and several were multifocal, suggesting that their detection was timely. Altogether, our results show that using an AI-based score to select a small proportion (6.9%) of individuals for supplemental MRI after negative mammography detects many missed cancers, making the cost per cancer detected comparable with screening mammography. ClinicalTrials.gov registration: NCT04832594.

Mixed Supervision of Histopathology Improves Prostate Cancer Classification From MRI.

Non-invasive prostate cancer classification from MRI has the potential to revolutionize patient care by providing early detection of clinically significant disease, but has thus far shown limited positive predictive value. To address this, we present a image-based deep learning method to predict clinically significant prostate cancer from screening MRI in patients that subsequently underwent biopsy with results ranging from benign pathology to the highest grade tumors. Specifically, we demonstrate that mixed supervision via diverse histopathological ground truth improves classification performance despite the cost of reduced concordance with image-based segmentation. Where prior approaches have utilized pathology results as ground truth derived from targeted biopsies and whole-mount prostatectomy to strongly supervise the localization of clinically significant cancer, our approach also utilizes weak supervision signals extracted from nontargeted systematic biopsies with regional localization to improve overall performance. Our key innovation is performing regression by distribution rather than simply by value, enabling use of additional pathology findings traditionally ignored by deep learning strategies. We evaluated our model on a dataset of 973 (testing n=198 ) multi-parametric prostate MRI exams collected at UCSF from 2016-2019 followed by MRI/ultrasound fusion (targeted) biopsy and systematic (nontargeted) biopsy of the prostate gland, demonstrating that deep networks trained with mixed supervision of histopathology can feasibly exceed the performance of the Prostate Imaging-Reporting and Data System (PI-RADS) clinical standard for prostate MRI interpretation (71.6% vs 66.7% balanced accuracy and 0.724 vs 0.716 AUC).

Relative Timing of Mammography and MRI for Breast Cancer Screening: Impact on Performance Evaluation

ObjectiveMammography and MRI screening typically occur in combination or in alternating sequence. We compared multimodality screening performance accounting for the relative timing of mammography and MRI and overlapping follow-up periods. MethodsWe identified 8,260 screening mammograms performed 2005 to 2017 in the Breast Cancer Surveillance Consortium, paired with screening MRIs within ±90 days (combined screening) or 91 to 270 days (alternating screening). Performance for combined screening (cancer detection rate [CDR] per 1,000 examinations and sensitivity) was calculated with 1-year follow-up for each modality, and with a single follow-up period treating the two tests as a single test. Alternating screening performance was calculated with 1-year follow-up for each modality and also with follow-up ending at the next screen if within 1 year (truncated follow-up). ResultsFor 3,810 combined screening pairs, CDR per 1,000 screens was 6.8 (95% confidence interval [CI]: 4.6-10.0) for mammography and 12.3 (95% CI: 9.3-16.4) for MRI as separate tests compared with 13.1 (95% CI: 10.0-17.3) as a single combined test. Sensitivity of each test was 48.1% (35.0%-61.5%) for mammography and 79.7% (95% CI: 67.7%-88.0%) for MRI compared with 96.2% (95% CI: 85.9%-99.0%) for combined screening. For 4,450 alternating screening pairs, mammography CDR per 1,000 screens changed from 3.6 (95% CI: 2.2-5.9) to zero with truncated follow-up; sensitivity was incalculable (denominator = 0). MRI CDR per 1,000 screens changed from 12.1 (95% CI 9.3-15.8) to 11.7 (95% CI: 8.9-15.3) with truncated follow-up; sensitivity changed from 75.0% (95% CI 63.8%-83.6%) to 86.7% (95% CI 75.5%-93.2%). DiscussionUpdating auditing approaches to account for combined and alternating screening sequencing and to address outcome attribution issues arising from overlapping follow-up periods can improve the accuracy of multimodality screening performance evaluation.

Feasibility of whole-body MRI for cancer screening in children and young people with ataxia telangiectasia: A mixed methods cross-sectional study.

Ataxia telangiectasia (A-T) is an inherited multisystem disorder with increased sensitivity to ionising radiation and elevated cancer risk. Although other cancer predisposition syndromes have established cancer screening protocols, evidence-based guidelines for cancer screening in A-T are lacking. This study sought to assess feasibility of a cancer screening protocol based on whole-body MRI (WB-MRI) in children and young people with A-T. Children and young people with A-T were invited to undergo a one-off non-sedated 3-Tesla WB-MRI. Completion rate of WB-MRI was recorded and diagnostic image quality assessed by two experienced radiologists, with pre-specified success thresholds for scan completion of >50% participants and image quality between acceptable to excellent in 65% participants. Positive imaging findings were classified according to the ONCO-RADS system. Post-participation interviews were performed with recruited families to assess the experience of participating and feelings about waiting for, and communication of, the findings of the scan. Forty-six children and young people with A-T were identified, of which 36 were eligible to participate, 18 were recruited and 16 underwent WB-MRI. Nineteen parents participated in interviews. Fifteen participants (83%) completed the full WB-MRI scan protocol. The pre-specified image quality criterion was achieved with diagnostic images obtained in at least 93% of each MRI sequence. Non-malignant scan findings were present in 4 (25%) participants. Six themes were identified from the interviews: (1) anxiety is a familiar feeling, (2) the process of MRI scanning is challenging for some children and families, (3) preparation is essential to reduce stress, (4) WB-MRI provides the reassurance about the physical health that families need, (5) WB-MRI experience turned out to be a positive experience and (6) WB-MRI allows families to be proactive. This study shows that WB-MRI for cancer screening is feasible and well-accepted by children and young people with A-T and their families.

Craniosynostosis: A Pictorial Review

Craniosynostoses are a mixed group of disorders affecting the pediatric skull, resulting from the early fusion of ≥1 cranial suture, leading to protean clinical manifestations. The radiologist must be familiar with nonsyndromic craniosynostosis, syndromic craniosynostosis and associated abnormalities, secondary craniosynostosis, and mimics of craniosynostosis, including deformational plagiocephaly. This review explores the radiologic and clinical presentation of these diseases as well as the imaging work-up, including screening radiography, ultrasound, CT, and MRI evaluation.Learning Objective: To understand the various types of craniosynostosis and their classic imaging appearances through knowledge of basic cranial sutural anatomy and cranial growth patterns.

Follow-up of Cystic Pineal Glands in Retinoblastoma Patients Does Not Increase Detection of Pineal Trilateral Retinoblastoma

PurposeTo evaluate the effectiveness of baseline screening and follow-up with MRI to detecting trilateral retinoblastoma (TRb) and assessing the risk of TRb development. DesignProspective multicenter cohort study MethodsA total of 607 retinoblastoma patients from 2012 through 2022 were included and followed up until 1-9-2023. At each center a neuroradiologist categorized pineal glands on baseline and follow-up scans into four groups: (A) normal, (B) cystic gland, (C) suspicious gland, or (D) TRb. Different follow-up schedules were assigned to each category. Categories (B) and (C) were followed-up with MRI after approximately 3-months and after another 3 months if suspicion remained. On each MRI, they measured the height and width, evaluated the aspect (solid, partly cystic and completely cystic) of the pineal gland and evaluated radiological features suspicious of pineal TRb. The effectiveness of the current TRb screening method was assessed by evaluating its sensitivity and specificity to detect TRb. Determining the TRb incidence was a secondary outcome measure. ResultsHeritable retinoblastoma patients had a risk of 3.78% to develop TRb. One out of four pineal TRbs was detected during a follow-up scan and four out of five non-pineal TRbs were detected on the baseline MRI. Screening for pineal TRb had a sensitivity of 25% and specificity of 100%, for non-pineal TRb the sensitivity was 80%. It required 494 follow-up scans to detect one pineal TRb. However, when restricting the follow-up to solely suspicious glands, only 22 scans were required to detect one pineal TRb. ConclusionDuring extended follow-up after baseline MRI, only one pineal trilateral retinoblastoma was detected in our study. Follow-up after three months should be restricted to patients with a suspicious pineal gland defined as irregularly thickening of the cyst wall (>2mm), fine nodular aspect of the cyst wall or when a solid or cystic gland exceeds the upper 99% prediction interval for size; patients with an unsuspicious cystic gland should not be followed up. Baseline MRI screening was able to detect most non-pineal trilateral retinoblastomas.

NFS-17. CORRELATIONS BETWEEN OPTICAL COHERENCE TOMOGRAPHY AND MAGNETIC RESONANCE IMAGING IN NEUROFIBROMATOSIS TYPE 1 – RELATED OPTIC PATHWAY GLIOMAS

Abstract BACKGROUND Optic pathway glioma (OPG) is a prevalent tumor affecting children with Neurofibromatosis type 1 (NF1), representing a diagnostic hallmark. OPGs, typically WHO grade 1 pilocytic astrocytomas, are characterized by an indolent course. Diagnosis and surveillance traditionally rely on Magnetic Resonance Imaging (MRI). Routine NF1 pediatric surveillance includes annual eye examinations, encompassing visual acuity (VA) and Optical Coherence Tomography (OCT), with MRI reserved for ophthalmological abnormalities. However, the precise correlation between altered OCT findings and OPG presence or size remains unclear, while the role of MRI in screening is contentious due to cost and anesthesia requirements. METHODS In this retrospective study, we sought to establish correlations between OCT changes and MRI-observed tumor volume in NF1-diagnosed children at a tertiary center. Clinical and ophthalmological data, including VA, fundoscopy, and OCT, were collected. Tumor volumes were assessed using the software Sophia DDMTM for Radiomics in two consecutive MRI scans in a randomly selected cohort of 50 untreated patients. RESULTS Among 409 NF1 patients, 132 (31%) were diagnosed with OPG (48% females = 64), revealing a significant association with plexiform neurofibroma (pNF) (p=0.03), thus indicating an elevated risk of concurrent tumor development. In the subcohort of patients in whom volumetric analysis was performed, the mean age at OPG diagnosis was 5.56 ± 3.59 years. While tumor volume on MRI correlated with VA (p=0.0007), OCT values did not: larger OPGs did not consistently result in thinner retinal nerve fiber layers, suggesting independence between OCT alterations and OPG size. CONCLUSIONS The observed lack of correlation among VA, retinal thickness (OCT), and tumor volume (MRI) underscores the importance of MRI as the gold standard for diagnosis. The strong association between pNFs and OPGs suggests considering whole-body MRI when an OPG is detected, facilitating comprehensive evaluation in NF1 patients.

Lifetime Health and Economic Outcomes of Biparametric Magnetic Resonance Imaging as First-Line Screening for Prostate Cancer : A Decision Model Analysis.

Contemporary prostate cancer (PCa) screening uses first-line prostate-specific antigen (PSA) testing, possibly followed by multiparametric magnetic resonance imaging (mpMRI) for men with elevated PSA levels. First-line biparametric MRI (bpMRI) screening has been proposed as an alternative. To evaluate the comparative effectiveness and cost-effectiveness of first-line bpMRI versus PSA-based screening. Decision analysis using a microsimulation model. Surveillance, Epidemiology, and End Results database; randomized trials. U.S. men aged 55 years with no prior screening or PCa diagnosis. Lifetime. U.S. health care system. Biennial screening to age 69 years using first-line PSA testing (test-positive threshold, 4 µg/L) with or without second-line mpMRI or first-line bpMRI (test-positive threshold, PI-RADS [Prostate Imaging Reporting and Data System] 3 to 5 or 4 to 5), followed by biopsy guided by MRI or MRI plus transrectal ultrasonography. Screening tests, biopsies, diagnoses, overdiagnoses, treatments, PCa deaths, quality-adjusted and unadjusted life-years saved, and costs. For 1000 men, first-line bpMRI versus first-line PSA testing prevented 2 to 3 PCa deaths and added 10 to 30 life-years (4 to 11 days per person) but increased the number of biopsies by 1506 to 4174 and the number of overdiagnoses by 38 to 124 depending on the biopsy imaging scheme. At conventional cost-effectiveness thresholds, first-line PSA testing with mpMRI followed by either biopsy approach for PI-RADS 4 to 5 produced the greatest net monetary benefits. First-line PSA testing remained more cost-effective even if bpMRI was free, all men with low-risk PCa underwent surveillance, or screening was quadrennial. Performance of first-line bpMRI was based on second-line mpMRI data. Decision analysis suggests that comparative effectiveness and cost-effectiveness of PCa screening are driven by false-positive results and overdiagnoses, favoring first-line PSA testing with mpMRI over first-line bpMRI. National Cancer Institute.

Awareness, Knowledge, and Current Practice of Breast Cancer Among Surgeons in Jordan.

Breast cancer (BC) is the most prevalent cancer in Jordan. De-escalation in treatment reflects a paradigm shift in BC treatment. More tailored strategies and the adoption of a multidisciplinary approach are essential to apply recent changes in management. In the era of breast surgery fellowship, adopting well-structured training is essential to apply recent therapeutic guidelines and meet patients' expectations. A cross-sectional study using a customized, self-reported questionnaire was used. Data collection occurred anonymously using a link via WhatsApp in the period between February 2023 and April 2023. A total of 89 surgeons were involved in this study, and only 14 (15.7%) completed a subspecialty in breast surgery. About 58.4% considered the age of 40 years as the starting point for screening, and 84.3% reported that mammogram screening is associated with improved BC survival. Only 10.1% and 28.1% acknowledged the applicability of both tomosynthesis and breast magnetic resonance imaging in screening, respectively. A significant difference in the mean knowledge score about BC is observed between general surgeon and those with subspecialty. Varying levels of awareness concerning different risk factors and their correlation with the likelihood of BC occurrence observed. Although 56.2% of participants could offer breast conserving surgery and consider it oncological safe, only 48.3% defined it correctly. Of the participants, 61.8% and 76.4% stated that sentinel lymph node biopsy can be safely applied in clinically negative or suspicious axillary nodes, respectively, with <50% of surgeon performing it in their practice. More efforts are required to enhance the knowledge and practice of surgeons in the field of breast surgery. Adopting national guidelines can facilitate the acceptance and improvement of current practices among surgeons in Jordan.

Tamoxifen for breast cancer prevention among survivors of pediatric lymphoma previously treated with chest radiation: Clinical benefits, harms and tradeoffs.

10025 Background: Survivors of pediatric lymphoma previously treated with chest radiation are at high risk for subsequent breast cancer. Although early initiation of breast cancer screening is recommended, the clinical benefits and harms of adding tamoxifen to reduce breast cancer deaths among these women are unknown. Methods: We adapted a Cancer Intervention and Surveillance Modeling Network (CISNET) breast model using data from the Childhood Cancer Survivor Study (CCSS) to reflect the elevated risks for breast cancer and competing mortality for 5-year survivors previously treated with chest radiation (RT). Breast cancer risk was based on age, chest RT field, timing of RT relative to menarche, menopause status, anthracycline exposure, and family history. Premature menopause risk varied by cumulative ovarian RT and alkylator dose. Based on the US Preventive Services Task Force 2019 Evidence Summary, we assumed tamoxifen (20mg daily for 5 years) reduced estrogen receptor positive (ER+) breast cancer risk by 42% (RR = 0.58 [0.42-0.81]) for 20 years and increased risks for venous thromboembolism, deep vein thrombosis, coronary heart disease, stroke and endometrial cancer during treatment. Strategies included no screening or tamoxifen, annual screening with mammography and MRI starting at age 25, annual screening with mammography and MRI starting at age 25 with the addition of tamoxifen at ages 25, 30 or 35. Model outcomes included cumulative breast cancer risk, number of childbearing years before age 45 (defined as years menstruating without tamoxifen use or a breast cancer diagnosis or having survived breast cancer for at least 3 years), and number of tamoxifen-related side-effects. Results: Among a cohort of 20-year-old 5-year lymphoma survivors previously treated with mediastinal RT without primary ovarian failure, an estimated 20% were projected to develop breast cancer and 2.6% would die from the disease before age 50 in the absence of screening or tamoxifen use. Survivors would have on average 22 childbearing years before age 45. Early initiation of breast cancer screening at age 25 would reduce breast cancer deaths before age 50 by 56.3%. Depending on age at initiation, tamoxifen would further reduce breast cancer deaths by 8.0 to 9.6 percentage points for an overall 64.3% to 65.9% reduction and reduce the average number of childbearing years by 17% to 21%. For each breast cancer death averted, a reduction of 1950 to 3740 childbearing life years and 11 to 20 side-effects would occur and varied by the tamoxifen start age compared to mammography and MRI screening. Conclusions: Tamoxifen use for primary breast cancer prevention among pediatric lymphoma survivors may further reduce breast cancer deaths but decisions might depend on survivor preferences for side effects vs. avoiding breast cancer and consideration of timing for childbearing.

EE319 Cost-Effectiveness of Assigning Early Interventions to Infants at High Risk for Autism Spectrum Disorder Using MRI Screening

EE319 Cost-Effectiveness of Assigning Early Interventions to Infants at High Risk for Autism Spectrum Disorder Using MRI Screening

Effect of polygenic risk score for clinically significant prostate cancer in a screening program: The BARCODE 1 study results.

10500 Background: Incidence of prostate cancer (PCa) is increasing, but there is no internationally agreed population screening program. Studies using an age-based PSA approach show a high rate of false-positive results as well as over-diagnosis of indolent PCa. Genome wide association studies identify common germline variants to calculate a polygenic risk score (PRS) associated with PCa risk. The BARCODE1 study used PRS to target PCa screening to those at higher risk based on genotype. Methods: European men aged 55-69yrs were recruited via Primary Care in the UK. PRS was constructed by summing weighted risk alleles for 130 PCa risk variants using germline DNA from saliva samples via mailed kits. Men with a PRS &gt; 90th centile were invited for PCa screening using MRI and 12-core transperineal biopsy (including MRI fusion to target additional lesions where identified) irrespective of PSA result. Results: Invitation letters were sent to 40,292 men. 8,953 (22%) expressed an interest; 8,014 were eligible and sent a saliva kit. 6,644 consented; 6,393 were genotyped; 251 failed QC. A total of 6,142 participants had PRS calculated: 745 (12.1%) had a PRS &gt; 90th centile and were invited to screening. 558/745 participants attended screening (121 declined, 66 excluded on health grounds). 551 underwent MRI and 468 had prostate biopsy resulting in 187 (40.0%) diagnoses of PCa, overall PCa detection rate 2.8%. Mean age at diagnosis 64.1yrs (range 57-73; median 64). Using NCCN criteria (2023) 103/187 (55.1%) of cancers were Intermediate or High Risk; 40/187 (21.4%) were Intermediate Unfavourable/High/Very High Risk. 119/187 (63.6%) men had a PSA &lt;3.0ug/L; PPV of biopsy for PSA &gt; 3.0ug/L was 49.6%. PPV of MRI (presence of PI-RADS 3-5 lesion) 60.4%. PPV of PRS alone 40%. 103/187 (55.1%) had Gleason &gt;7; compared with 360/1014 (35.5%) p &lt; 0.001 in the PSA directed ERSPC study. Conclusions: A population PCa screening program using PRS risk-stratification enriches for clinically significant PCa requiring treatment. It detects a high proportion of clinically significant disease compared with PSA or MRI based screening programs and MRI missed a significant proportion (17-67%) of cancers found on biopsy. This is the first study to assess if this approach will be useful in population screening programs. Clinical trial information: NCT03857477 . [Table: see text]

Performance of an ultra-fast deep-learning accelerated MRI screening protocol for prostate cancer compared to a standard multiparametric protocol

ObjectivesTo establish and evaluate an ultra-fast MRI screening protocol for prostate cancer (PCa) in comparison to the standard multiparametric (mp) protocol, reducing scan time and maintaining adequate diagnostic performance.Materials and methodsThis prospective single-center study included consecutive biopsy-naïve patients with suspected PCa between December 2022 and March 2023. A PI-RADSv2.1 conform mpMRI protocol was acquired in a 3 T scanner (scan time: 25 min 45 sec). In addition, two deep-learning (DL) accelerated sequences (T2- and diffusion-weighted) were acquired, serving as a screening protocol (scan time: 3 min 28 sec). Two readers evaluated image quality and the probability of PCa regarding PI-RADSv2.1 scores in two sessions. The diagnostic performance of the screening protocol with mpMRI serving as the reference standard was derived. Inter- and intra-reader agreements were evaluated using weighted kappa statistics.ResultsWe included 77 patients with 97 lesions (mean age: 66 years; SD: 7.7). Diagnostic performance of the screening protocol was excellent with a sensitivity and specificity of 100%/100% and 89%/98% (cut-off ≥ PI-RADS 4) for reader 1 (R1) and reader 2 (R2), respectively. Mean image quality was 3.96 (R1) and 4.35 (R2) for the standard protocol vs. 4.74 and 4.57 for the screening protocol (p < 0.05). Inter-reader agreement was moderate (κ: 0.55) for the screening protocol and substantial (κ: 0.61) for the multiparametric protocol.ConclusionThe ultra-fast screening protocol showed similar diagnostic performance and better imaging quality compared to the mpMRI in under 15% of scan time, improving efficacy and enabling the implementation of screening protocols in clinical routine.Clinical relevance statementThe ultra-fast protocol enables examinations without contrast administration, drastically reducing scan time to 3.5 min with similar diagnostic performance and better imaging quality. This facilitates patient-friendly, efficient examinations and addresses the conflict of increasing demand for examinations at currently exhausted capacities.Key PointsTime-consuming MRI protocols are in conflict with an expected increase in examinations required for prostate cancer screening.An ultra-fast MRI protocol shows similar performance and better image quality compared to the standard protocol.Deep-learning acceleration facilitates efficient and patient-friendly examinations, thus improving prostate cancer screening capacity.Graphical

Prevalence, genetic and clinical characteristics in first-degree relatives of patients with familial cerebral cavernous malformations in China

ObjectiveThis study aims to investigate the prevalence of familial cerebral cavernous malformations (FCCMs) in first-degree relatives (FDRs) using familial screening, to describe the distribution of initial symptoms, lesion count on...

Colorectal cancer screening with virtual colonography

Since 2003, adecline in the age-standardized incidence rates of colorectal cancer (CRC) has been observed in Germany. Nonetheless, one in eight cancer cases still affects the colon or rectum. The prognosis has improved, with the relative 5‑year survival rate for CRC being approximately 65%. This positive trend is probably aresult of preventive measures introduced over the last 20years. This could be further improved, however, as CRC can not only be detected early but in almost all cases also prevented through the identification of benign precursors. Less than half of all eligible individuals participate in screening via colonoscopy. This implies that further, possibly even imaging, screening test methods should be explored and offered. Studies have reported that virtual colonography techniques have acomparable accuracy to endoscopy of about 90% for polyp sizes larger than 5 mm. The data for computed tomography (CT) is more extensive than for magnetic resonance imaging (MRI). Significant challenges are posed however by the fact that in Germany CT colonography (CTC) is not considered aviable screening option due to radiation protection concerns, and MRI screening is not an established screening method. Radiologists should be familiar with classification using the CT Colonography Reporting and Data System (C-RADS), which uses criteria such as CT density, morphology, size, and location for classification. C‑RADS classification follows the categories: C0 (inadequate study), C1 (normal), C2a (indeterminate), C2b (benign), C3 (suspicious), and C4 (malignant), as well as extracolonic categories E1/2 (no clinically significant findings), E3 (likely insignificant findings), and E4 (likely significant findings).

Microcephaly and Its Related Syndromes: Classification, Genetic, Clinical, and Rehabilitative Considerations

AbstractMicrocephaly, a form of cortical cortex malformation, results from abnormal cellular production and proliferation, identified when the occipital frontal head circumference (OFC) falls two or more standard deviations (SDs) below the expected average for age, gender, and population. Severity is classified based on SD: mild (OFC &lt; 2 SD) or severe (OFC &lt; 3 SD). While microcephaly can lead to developmental delay, intellectual disability, epilepsy, and cerebral palsy, not all cases exhibit these issues. Classified as primary/congenital or secondary/postnatal, microcephaly can stem from genetic or acquired factors in both types. Congenital microcephaly origins vary, while secondary microcephaly is characterized by normal OFC at birth, followed by a decrease within the first year, often associated with progressive cognitive and motor impairments. Primary hereditary microcephaly (MCPH), or microcephaly vera, is genetically diverse, with 28 related genes (MCPH1 to MCPH28) encoding proteins linked to centrosomes and progenitor cell mitosis in the brain ventricle's neuroepithelium. Defects in deoxyribonucleic acid (DNA) repair pathways (e.g., NBN, FANCA, ATR, ATM genes) can lead to microcephaly by impairing DNA repair. Enzyme deficiencies in metabolic pathways may also contribute, causing toxic metabolite accumulation or essential metabolite loss (microcephaly of metabolic origin). Acquired congenital microcephaly may result from ischemic or infectious processes, drugs, radiation, maternal diseases during pregnancy, with damage influenced by fetal genetics, environmental interactions, developmental stage, and exposure intensity/duration. Diagnostic workup includes electroencephalogram, ophthalmological, auditory, magnetic resonance imaging, metabolic, echocardiogram, and infection screening tests, alongside genetic evaluations like cytogenetic studies, fluorescence in situ hybridization, comparative genomic microarray-hybridization, single-nucleotide microarray-polymorphism, and exome sequencing. Symptomatic treatment is available, and genetic counseling is crucial for affected families.