Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation.

Dandy-Walker malformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound and antenatal or postnatal MRI. Specific radiological criteria are used to distinguish them, yet little is known about their differential developmental disease mechanisms. We acquired prenatal cases diagnosed as DWM and CVH and studied cerebellar morphobiometry followed by histological and immunohistochemical analyses. This was supplemented by laser capture microdissection and RNA-sequencing of the cerebellar rhombic lip, a transient progenitor zone, to assess the altered transcriptome of DWM vs control samples. Our radiological findings confirm that the cases studied fall within the accepted biometric range of DWM. Our histopathological analysis points to reduced foliation and inferior vermian hypoplasia as common features in all examined DWM cases. We also find that the rhombic lip, a dorsal stem cell zone that drives the growth and maintenance of the posterior vermis is specifically disrupted in DWM, with reduced proliferation and self-renewal of the progenitor pool, and altered vasculature, all confirmed by transcriptomics analysis. We propose a unified model for the developmental pathogenesis of DWM. We hypothesize that rhombic lip development is disrupted through either aberrant vascularization and/or direct insult which causes reduced proliferation and failed expansion of the rhombic lip progenitor pool leading to disproportionate hypoplasia and dysplasia of the inferior vermis. Timing of insult to the developing rhombic lip (before or after 14 PCW) dictates the extent of hypoplasia and distinguishes DWM from CVH.

Incidental diagnosis of a pancreatic adenocarcinoma in a woman affected by gestational diabetes mellitus: case report and literature review.

Pancreatic cancer is rarely diagnosed during pregnancy; it usually manifests with symptoms such as epigastric pain, vomiting, weight loss, and jaundice, rarely mimicking the hemolysis, elevated liver enzymes, and low platelet count syndrome. It has been postulated that there exists a correlation between the diagnosis of gestational diabetes mellitus and the occurrence of pancreatic cancer later in life. We conducted an expert literature review of the 31 available documented pancreatic cancer cases that were diagnosed during pregnancy. We also report pancreatic adenocarcinoma incidentally suspected in an asymptomatic woman affected by gestational diabetes mellitus; the woman was undergoing a fetal growth scan.

GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.

INTRODUCTION: Brachydactyly is a bone development abnormality presenting with variable phenotypes and different transmission patterns. Mutations in GDF5 (Growth and Differentiation Factor 5, MIM *601146) account for a significant amount of cases. Here, we report on a three-generation family, where the proband and the grandfather have an isolated brachydactyly with features of both type A1 (MIM #112500) and type C (MIM #113100), while the mother shows only subtle hand phenotype signs. MATERIALS AND METHODS: Whole Exome Sequencing (WES) was performed on the two affected individuals. An in-depth analysis of GDF5 genotype-phenotype correlations was performed through literature reviewing and retrieving information from several databases to elucidate GDF5-related molecular pathogenic mechanisms. RESULTS: WES analysis disclosed a pathogenic variant in GDF5 (NM_000557.5:c.157dup; NP_000548.2:p.Leu53Profs*41; rs778834209), segregating with the phenotype. The frameshift variant was previously associated with Brachydactyly type C (MIM #113100), in heterozygosity, and with the severe Grebe type chondrodysplasia (MIM #200700), in homozygosity. In-depth analysis of literature and databases allowed to retrieve GDF5 mutations and correlations to phenotypes. We disclosed the association of 49 GDF5 pathogenic mutations with eight phenotypes, with both autosomal dominant and recessive transmission patterns. Clinical presentations ranged from severe defects of limb morphogenesis to mild redundant ossification. We suggest that such clinical gradient can be linked to a continuum of GDF5-activity variation, with loss of GDF5 activity underlying bone development defects, and gain of function causing disorders with excessive bone formation. CONCLUSIONS: Our analysis of GDF5 pathogenicity mechanisms furtherly supports that mutation and zygosity backgrounds resulting in the same level of GDF5 activity may lead to similar phenotypes. This information can aid in interpreting the potential pathogenic effect of new variants and in supporting an appropriate genetic counseling.

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.

BACKGROUND: Posterior fossa malformations are among the most diagnosed central nervous system (CNS) anomalies detected by ultrasound (US) in prenatal age. We identified the pathogenic gene mutation in a male fetus of 17 weeks of gestation with US suspicion of familial Dandy-Walker spectrum malformation, using Next Generation Sequencing approach in prenatal diagnosis. METHODS: Whole exome sequencing (WES) approach has been performed on fetal genomic DNA. After reads preprocessing, mapping, variant calling, and annotation, a filtering strategy based on allelic frequency, recessive inheritance, and phenotypic ontologies has been applied. A fetal magnetic resonance imaging (MRI) at 18 weeks of gestation has been performed. An in silico analysis of a potential causative missense variant in the fukutin protein has been carried out through a structural modeling approach. RESULTS: We identified a new homozygous missense mutation in fukutin gene (FKTN, NM_006731.2: c.898G>A; NP_006722.2: p.Gly300Arg). Fetal MRI supported molecular findings. Structural modeling analyses indicated a potential pathogenetic mechanism of the variant, through a reduced activation of the sugar moieties, which in turn impairs transfer to dystroglycan and thus its glycosylation. These findings pointed to a redefinition of the US suspicion of recurrence of Dandy-Walker malformation (DWM) to a muscular dystrophy-dystroglycanopathy type A4. CONCLUSIONS: The present case confirmed WES as a reliable tool for the prenatal identification of the molecular bases of early-detected CNS malformations.

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.

We present histological and molecular analyses of the developing human cerebellum from 30 days after conception to 9 months after birth. Differences in developmental patterns between humans and mice include spatiotemporal expansion of both ventricular and rhombic lip primary progenitor zones to include subventricular zones containing basal progenitors. The human rhombic lip persists longer through cerebellar development than in the mouse and undergoes morphological changes to form a progenitor pool in the posterior lobule, which is not seen in other organisms, not even in the nonhuman primate the macaque. Disruptions in human rhombic lip development are associated with posterior cerebellar vermis hypoplasia and Dandy-Walker malformation. The presence of these species-specific neural progenitor populations refines our insight into human cerebellar developmental disorders.

Contrast-enhanced ultrasound in the diagnosis of pediatric focal nodular hyperplasia and hepatic adenoma: interobserver reliability.

BACKGROUND: Focal nodular hyperplasia and hepatic adenoma are rare liver tumors in which specific features on contrast-enhanced ultrasound (US) have been reported but are little known in children. OBJECTIVE: To assess the interobserver agreement in diagnosing and differentiating focal nodular hyperplasia and hepatic adenoma in children using established adult contrast-enhanced US characteristics. MATERIALS AND METHODS: Thirty children with a definite or probable diagnosis of focal nodular hyperplasia or hepatic adenoma on magnetic resonance imaging (MRI)/histology who underwent contrast-enhanced US studies were included. Typical and additional contrast-enhanced US features of focal nodular hyperplasia and hepatic adenoma were included. The lesions were classified as definite/probable focal nodular hyperplasia, definite/probably hepatic adenoma or unclassified. The interobserver kappa of contrast-enhanced US characteristics was calculated. RESULTS: Focal nodular hyperplasia and hepatic adenoma in children demonstrate contrast-enhanced US characteristics similar to those in adults. Among the nine lesions with confirmed histological diagnosis, correct diagnosis was made in 7 (77.8%) based on contrast-enhanced US criteria. Two lesions were unclassified by both observers due to a mixed arterial filling pattern. Interobserver kappa for contrast-enhanced US diagnosis was 0.64 (P<0.0001). CONCLUSION: There is a good interobserver kappa for separating focal nodular hyperplasia from hepatic adenoma in children using established adult contrast-enhanced US features.

Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.

We present an atypical association of SCN2A epileptic encephalopathy with severe cortical dysplasia. SCN2A mutations are associated with epileptic syndromes from benign to extremely severe in absence of such macroscopic brain findings. Prenatal MRI (Magnetic Resonance Imaging) in a 32 weeks fetus, with US (Ultrasonography) diagnosis of isolated ventriculomegaly showed CNS (Central Nervous System) dysplasia characterized by lack of differentiation between cortical and subcortical layers, pachygyria and corpus callosum dysgenesis. Postnatal MRI confirmed the prenatal findings. On day 6 the baby presented a focal status epilepticus, partially controlled by phenobarbital, phenytoin, and levetiracetam. After three weeks a moderate improvement in seizure control has been achieved with carbamazepine. Exome sequencing detected a de novo heterozygous mutation in the SCN2A gene, encoding the αII-subunit of a sodium channel. The patient findings expand the phenotype spectrum of SCN2A mutations to epileptic encephalopathies with macroscopic brain developmental features.

MRI, US or real-time virtual sonography in the evaluation of adenomyosis?

PURPOSE: Real-time virtual sonography (RVS) allows displaying and synchronizing real-time US and multiplanar reconstruction of MRI images. The purpose of this study was to evaluate the feasibility and ability of RVS to assess adenomyosis since literature shows US itself has a reduced diagnostic accuracy compared to MRI. MATERIALS AND METHODS: This study was conducted over a 4-month period (March-June 2015). We enrolled in the study 52 women with clinical symptoms of dysmenorrhea, methrorragia and infertility. Every patient underwent an endovaginal US examination, followed by a 3T MRI exam and a RVS exam (Hitachi HI Vision Ascendus). The MRI image dataset acquired at the time of the examination was loaded into the fusion system and displayed together with the US images. Both sets of images were then manually synchronized and images were registered using multiple plane MR imaging. Radiologist was asked to report all three examinations separately. RESULTS: On a total of 52 patients, on standard endovaginal US, adenomyosis was detected in 27 cases: of these, 21 presented diffuse adenomyosis, and 6 cases focal form of adenomyosis. MRI detected adenomyosis in 30 cases: 22 of these appeared as diffuse form and 8 as focal form, such as adenomyoma and adenomyotic cyst, thus resulting in 3 misdiagnosed cases on US. RVS confirmed all 22 cases of diffuse adenomyosis and all 8 cases of focal adenomyosis. CONCLUSIONS: Thanks to information from both US and MRI, fusion imaging allows better identification of adenomyosis and could improve the performance of ultrasound operator thus to implement the contribution of TVUS in daily practice.

Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study.

PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies. METHODS: We retrospectively analyzed 104 fetuses with CCD undergoing MRI between 2006 and 2016. Corpus callosum, cavum septi pellucidi, biometry, presence of ventriculomegaly, gyration anomalies, cranio-encephalic abnormalities and body malformations were evaluated. Results of genetic tests were also recorded. RESULTS: At MRI, isolated CCD was 26.9%, the rest being associated to other abnormalities. In the isolated group, median gestational age at MRI was lower in complete agenesis than in hypoplasia (22 vs 28 weeks). In the group with additional findings, cortical dysplasia was the most frequently associated feature (P = 0.008), with a more frequent occurrence in complete agenesis (70%) versus other forms; mesial frontal lobes were more often involved than other cortical regions (P = 0.006), with polymicrogyria as the most frequent cortical malformation (40%). Multivariate analysis confirmed the association between complete agenesis and cortical dysplasia (odds ratio = 7.29, 95% confidence interval 1.51-35.21). CONCLUSIONS: CCD is often complicated by other intra-cranial and extra-cranial findings (cortical dysplasias as the most prevalent) that significantly affect the postnatal prognosis. The present study showed CCD with associated anomalies as more frequent than isolated (73.1%). In isolated forms, severe ventriculomegaly was a reliable herald of future appearance of associated features. © 2016 John Wiley & Sons, Ltd.

Multiparametric sonographic imaging of a capillary hemangioma of the testis: appearances on gray-scale, color Doppler, contrast-enhanced ultrasound and strain elastography.

We report a case of a lobular capillary hemangioma in a 66-year-old man, who presented with left testicular pain, with an asymptomatic incidental right testicular lesion found on ultrasonography. The sonographic examination demonstrated a heterogeneous mainly iso-echoic intratesticular lesion with marked vascularity on the color Doppler examination. Further evaluation with contrast-enhanced ultrasound and strain elastography was performed; the multiparametric imaging suggested a benign tumor. The multidisciplinary team decision with patient consent was to perform a radical orchiectomy with subsequent histopathology confirming a benign lobular capillary hemangioma.

Biparametric Magnetic Resonance Imaging as an Adjunct to CA125 and HE4 to Improve Characterization of Large Ovarian Masses.

BACKGROUND/AIM: Aim of the present study was to assess the diagnostic value of unenhanced biparametric magnetic resonance imaging (Bp-MRI) as adjunct to CA125 and human epididymis protein 4 (HE4) in the characterization of large ovarian masses. PATIENTS AND METHODS: Bp-MRI and dynamic contrast-enhanced (DCE) imaging of 53 patients with large ovarian masses were retrospectively analyzed and compared to histological diagnosis. The results of Bp-MRI and DCE were assessed by two readers in consensus for each technique individually compared to each other and then with HE4 and CA125. RESULTS: Sensitivity, specificity, negative predictive values and positive predictive values for Bp-MRI and DCE were 92.3%, 91.4%, 94.1%, 88.9% and 84.6%, 94.3%, 89.2%, 91.7%, respectively. Both Bp-MRI and DCE were significant predictors of outcome. Among biomarkers, HE4 was significant. Considering the area under receiver operating characteristic curve the model including Bp-MRI and HE4 was not significantly different from the model including DCE and HE4. CONCLUSION: Bp-MRI in addition to HE4, especially in women of pre-menopausal age, could improve the characterization of large ovarian masses.

Dandy-Walker Malformation: is the 'tail sign' the key sign?

OBJECTIVE: The study aims to demonstrate the value of the 'tail sign' in the assessment of Dandy-Walker malformation. METHODS: A total of 31 fetal magnetic resonance imaging (MRI), performed before 24 weeks of gestation after second-line ultrasound examination between May 2013 and September 2014, were examined retrospectively. All MRI examinations were performed using a 1.5 Tesla magnet without maternal sedation. RESULTS: Magnetic resonance imaging diagnosed 15/31 cases of Dandy-Walker malformation, 6/31 of vermian partial caudal agenesis, 2/31 of vermian hypoplasia, 4/31 of vermian malrotation, 2/31 of Walker-Warburg syndrome, 1/31 of Blake pouch cyst and 1/31 of rhombencephalosynapsis. All data were compared with fetopsy results, fetal MRI after the 30th week or postnatal MRI; the follow-up depended on the maternal decision to terminate or continue pregnancy. In our review study, we found the presence of the 'tail sign'; this sign was visible only in Dandy-Walker malformation and Walker-Warburg syndrome. CONCLUSION: The 'tail sign' could be helpful in the difficult differential diagnosis between Dandy-Walker, vermian malrotation, vermian hypoplasia and vermian partial agenesis.

A prospective study on contrast-enhanced magnetic resonance imaging of testicular lesions: distinctive features of Leydig cell tumours.

OBJECTIVES: Up to 20 % of incidentally found testicular lesions are benign Leydig cell tumours (LCTs). This study evaluates the role of contrast-enhanced magnetic resonance imaging (MRI) in the identification of LCTs in a large prospective cohort study. MATERIALS AND METHODS: We enrolled 44 consecutive patients with at least one solid non-palpable testicular lesion who underwent scrotal MRI. Margins of the lesions, signal intensity and pattern of wash-in and wash-out were analysed by two radiologists. The frequency distribution of malignant and benign MRI features in the different groups was compared by using the chi-squared or Fisher's exact test. Sensitivity, specificity, positive and negative predictive value, and diagnostic accuracy were calculated. RESULTS: The sensitivity of scrotal MRI to diagnose LCTs was 89.47 % with 95.65 % specificity; sensitivity for malignant lesions was 95.65 % with 80.95 % specificity. A markedly hypointense signal on T2-WI, rapid and marked wash-in followed by a prolonged washout were distinctive features significantly associated with LCTs. Malignant lesions were significantly associated with blurred margins, weak hypointense signal on T2-WI ,and weak and progressive wash-in. The overall diagnostic accuracy was 93 %. CONCLUSIONS: LCTs have distinctive contrast-enhanced MRI features that allow the differential diagnosis of incidental testicular lesions. KEY POINTS: • MRI is able to characterize testicular lesions suggesting a specific diagnosis. • Rapid and marked wash-in is a common feature of Leydig cell tumours. • Markedly hypointense T2-WI signal is significantly correlated with benign lesions. • Blurred margins and weak hypointense T2-WI signal are correlated with malignant tumours. • Weak and progressive wash-in features are present in 85 % of seminomatous lesions.

Role of magnetic resonance imaging in the prenatal diagnosis of gastrointestinal fetal anomalies.

PURPOSE: This study was done to evaluate the role of fetal magnetic resonance imaging (MRI) in the study of gastrointestinal malformations in comparison to prenatal ultrasound (US). MATERIALS AND METHODS: A prospective (2010-2012) study of 38 fetal MRI scans was performed on 38 fetuses between 24 and 38 weeks of gestation. All the fetuses had a US diagnosis of gastrointestinal anomalies. T2-weighted HASTE, T1-weighted fast gradient echo, TrueFISP and diffusion-weighted images of the fetal abdomen were obtained on a 1.5-Tesla magnet. All fetal MRI diagnoses were compared with postnatal US findings, autopsy or surgical reports. RESULTS: Fetal MRI was able to confirm the sonographic findings in nine of 38 fetuses (23.7%), to provide additional information in 23 of 38 fetuses (60.6%), to exclude the US diagnosis in five cases (5.2%) and to change it in two cases (5.2%). It was not able to characterize a case of gastric duplication and a case of abdominal cystic lymphangioma (5.2%). CONCLUSIONS: Fetal MRI can be used as a complementary imaging modality to US in prenatal evaluation of gastrointestinal anomalies and can be considered a valuable tool not only for confirming or excluding but also for providing additional information to fetal ultrasonographic findings.

May increased CA125 in borderline ovarian tumor be indicative of a poor prognosis? A case report.

We present a case of a 58-year-old menopausal woman referred to our hospital for the presence of large pelvic masses diagnosed by clinical examination and pelvic ultrasound. MRI examination showed voluminous bilateral capsulated multilocular ovarian cysts slightly hyperintense on T1-weighted images with thick septa and small papillary projections. CT scan confirmed the MRI findings. Among the ovarian tumor markers analyzed (CA125, HE4, and CA72.4), only Ca125 was slightly increased (48 U/ml). These data were suggestive of mucinous ovarian tumor. The patient underwent total hysterectomy with bilateral salpingo-oophorectomy, appendectomy, and multiple peritoneal biopsies. Pathological examination revealed bilateral borderline mucinous ovarian tumor with superficial atypical implants. Nine months later, the patient complained of left coxofemoral pain and underwent a PET/TC total body that suggested pubic bone metastases. Ovarian tumor markers were analyzed, and a second PET/TC was performed. CA125 was 252 U/ml, HE4 62 pM/L, and CA72.4 > 100 U/Ml. PET/TC was suggestive of peritoneal carcinosis. The patient was readmitted to the hospital. Clinical examination revealed small vaginal nodules. All nodules were excised. Microscopic analysis of all specimens revealed metastatic mucinous adenocarcinoma of intestinal type.The case shows that even a slight CA125 increase in the presence of a borderline ovarian tumor should not be overlooked since it can be indicative of a progressive disease. This case also highlights its additional diagnostic value when serum CA125 analysis is used in conjunction with MRI and CT imaging for the prognosis of mucinous borderline ovarian tumors (mBOTs).

Burkitt's Lymphoma Presented as Advanced Ovarian Cancer without Evidence of Lymphadenopathy: CT and MRI Findings.

Burkitt's lymphoma is a rare non-Hodgkin's lymphoma which can occasionally involve the ovary and may cause confusion for the clinician since its presentation might mimic other much more frequent tumors. We present a case of a 23-year-old woman with sporadic Burkitt's lymphoma presented as advanced ovarian cancer with bilateral ovarian masses, peritoneal carcinomatosis, ascites, and marked elevation of CA-125. Liver involvement and atypical bone lesions, such as the cranial vault and the iliac wing, were also detected without evidence of lymphadenopathy. We describe the MRI and CT findings of simultaneous ovarian and bone lesions, which have never been reported in literature in a patient with Burkitt's lymphoma, before and after one cycle of chemotherapy. In evaluating any ovarian neoplasm in a young woman, Burkitt's lymphoma should be considered as a possibility, particularly if associated with bone lesions. MRI is the most useful tool to characterize the ovarian lesions and suggest the diagnosis before the histopathological results.

Beyond laparoscopy: 3-T magnetic resonance imaging in the evaluation of posterior cul-de-sac obliteration.

OBJECTIVES: Endometriosis is the ectopic localization of endometrial glands. Symptoms include a wide variety of chronic pelvic pain. Ovarian endometriosis represents the most frequent site of implantation followed by the Douglas pouch which is undepicted unless peritoneal fluid is present. Pelvic exams may be reported as normal in 40% of evaluations, although multiple nodularities are located in this region. Nowadays, laparoscopy represents the standard technique for endometriosis evaluation. However, magnetic resonance imaging (MRI) remains the best noninvasive technique for the evaluation of pelvic lesions. According to the importance of a precise preoperative diagnosis of deep infiltrative endometriosis involving the Douglas pouch, we evaluated feasibility of a 3-T system in the evaluation of this particular region. METHODS: We enrolled 19 women coming with either ultrasound or anamnestic suspicion of endometriosis. Pelvic MRI examination was performed on the 3-T system. We applied a standard exam protocol including pulse sequences [single-shot fast spin echo (FSE)] and high-resolution T2W and T1W FSE sequences with and without FS. RESULTS: MRI diagnosed posterior cul-de-sac obliteration in 15/19 patients. MRI findings were compared with laparoscopy, thus obtaining the following statistical values: mean sensitivity, specificity, positive predictive value and negative predictive value, respectively, of 93%, 75%, 93% and 75%. Moreover, we calculated an interobserver agreement k value of 0.72 with a substantial degree of agreement between two radiologists of a sensitivity value of 93% and specificity value of 75%. CONCLUSIONS: Precise preoperative mapping of posterior cul-de-sac region is essential for a preoperative planning. In our work, the 3-T MRI was shown to be excellent in the evaluation of posterior cul-de-sac obliteration associated to an optimal evaluation of the uterosacral ligaments due to the higher contrast spatial resolution.

Role of foetal MRI in the evaluation of ischaemic-haemorrhagic lesions of the foetal brain.

OBJECTIVE: The purpose of this study is to define the role of foetal magnetic resonance imaging (MRI) in evaluating cerebral ischaemic-haemorrhagic lesions and the extension of parenchymal injuries. STUDY DESIGN: From September 2006 to September 2010, 271 foetal MRI have been performed on cases referred to us for ultrasound suspect of brain abnormalities or cytomegalovirus infection and Toxoplasma serum conversion. Foetal MRI was performed with a 1.5-T magnet system without mother sedation. RESULTS: Foetal MRI detected ischaemic-haemorrhagic lesions in 14 of 271 foetuses, consisting of 5% incidence. MRI confirmed the diagnosis in three of 14 cases with ultrasonography (US) suspect of ischaemic-haemorrhagic lesions associated with ventriculomegaly. In one of 14 cases with US findings of cerebellar haemorrhage, MRI confirmed the diagnosis and provided additional information regarding the parenchymal ischaemic injury. In eight of 14 cases with US suspect of ventriculomegaly (3), corpus callosum agenesis (2), hypoplasia of cerebellar vermis (1), holoprosencephaly (1) and spina bifida (1), MRI detected ischaemic and haemorrhagic lesions unidentified at US examination. In two of 14 foetuses with US suspect of intracerebral space-occupying lesion, MRI modified the diagnosis to extra-axial haematoma associated with dural sinus malformation. Results were compared with post-mortem findings or afterbirth imaging follow-up. CONCLUSIONS: Foetal MRI is an additional imaging modality in the diagnosis of cerebral ischemic-haemorrhagic lesions, and it is useful in providing further information on the extension of the parenchymal injury and associated abnormalities, thus improving delivery management.

Value of magnetic resonance spectroscopy imaging and dynamic contrast-enhanced imaging for detecting prostate cancer foci in men with prior negative biopsy.

PURPOSE: This study aimed to prospectively analyze the role of magnetic resonance spectroscopy imaging (MRSI) and dynamic-contrast enhancement magnetic resonance (DCEMR) in the detection of prostate tumor foci in patients with persistently elevated prostate-specific antigen levels (in the range of >or=4 ng/mL to <10 ng/mL) and prior negative random trans-rectal ultrasound (TRUS)-guided biopsy. EXPERIMENTAL DESIGN: This was a prospective randomized single-center study. One hundred and eighty eligible cases were included in the study. Patients in group A were submitted to a second random prostate biopsy, whereas patients in group B were submitted to a (1)H-MRSI-DCEMR examination and samples targeted on suspicious areas were associated to the random biopsy. RESULTS: At the second biopsy, a prostate adenocarcinoma histologic diagnosis was found in 22 of 90 cases (24.4%) in group A and in 41 of 90 cases (45.5%) in group B (P = 0.01). On a patient-by-patient basis, MRSI had 92.3% sensitivity, 88.2% specificity, 85.7% positive predictive value (PPV), 93.7% negative predictive value (NPV), and 90% accuracy; DCEMR had 84.6 % sensitivity, 82.3% specificity, 78.5% PPV, 87.5% NPV, and 83.3% accuracy; and the association MRSI plus DCEMR had 92.6% sensitivity, 88.8% specificity, 88.7% PPV, 92.7% NPV, and 90.7% accuracy, for predicting prostate cancer detection. CONCLUSIONS: The combination of MRSI and DCEMR showed the potential to guide biopsy to cancer foci in patients with previously negative TRUS biopsy. To avoid a potential bias, represented from having taken more samples in group B (mean of cores, 12.17) than in group A (10 cores), in the future a MRSI/DCEMR directed biopsy could be prospectively compared with a saturation biopsy procedure.

Bladder carcinoma: MDCT cystography and virtual cystoscopy.

Bladder carcinoma is the most common tumor among the low urinary tract, accounting for 90% of cancer cases. Conventional cystoscopy represents the gold standard for diagnosis and local management of bladder carcinoma. As the prevalence of transitional cell carcinoma is four-fold greater in men than in women, the endoscopic procedure presents objective difficulties related to the length and bending of male urethra. The most important problems are represented by intense discomfort for the patient and bleeding; furthermore, the high cost, invasivity, and local complications such as infections and mechanical lesions are well-known drawbacks. Additionally, conventional cystoscopy does not provide information about extravescical extensions of the tumor. CT cystography, combined with virtual cystoscopy, is mandatory for TNM staging of the tumor and also is useful when conventional cystoscopy is inconclusive or cannot be performed. We presents the CT cystography findings with virtual endoscopy correlation and bladder carcinoma appearance.