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Background: Polycystic kidney diseases (PKD) are an important cause of chronic kidney disease (CKD). Autosomal dominant polycystic kidney disease (ADPKD) due to PKD1 or PKD2 mutations is the most common form, but other genes can be responsible for ADPKD and its phenocopies. Among them, a form of atypical ADPKD caused by DNAJB11 mutations (DNAJB11-PKD) has been recently described., Methods: We retrospectively recruited a cohort of 27 patients from six different families sharing common ancestries and harboring the same DNAJB11 mutation (c.100C>T, p.Arg34*) and we compared it with a cohort of 42 typical ADPKD patients., Results: DNAJB11-PKD patients show small/normal-sized kidneys, with significantly smaller cysts and a slower progression to end-stage kidney disease (ESKD) than ADPKD patients. In the DNAJB11-PKD cohort, the cystic phenotype could not be detected by ultrasound in about half of the patients, but all cases with available computed tomography/magnetic resonance scans displayed cysts. Clinically, DNAJB11-PKD patients displayed proteinuria (mostly albuminuria). Compared with ADPKD, DNAJB11-PKD patients were older and had a higher prevalence of type 2 diabetes mellitus (19% versus 0%; P  = 0.007) and nephrolithiasis (62% versus 29%; P  = 0.01), whereas the prevalence of cardiac valvular defects was lower (4% versus 51%; P < 0.001)., Conclusions: Overall, clinical features of DNAJB11-PKD were more subtle compared with those of ADPKD. DNAJB11-PKD shows a unique renal and extrarenal phenotype, clinical presentation and natural history. Therefore our data support that this genetic disease is classified separately from ADPKD., (© The Author(s) 2022. Published by Oxford University Press on behalf of the ERA.)

Purpose: To test radiomics for prognostication of intrahepatic mass-forming cholangiocarcinoma (IMCC) and to develop a comprehensive risk model., Methods: Histologically proven IMCC (representing the full range of stages) were retrospectively analyzed by volume segmentation on baseline hepatic venous phase computed tomography (CT), by two readers with different experience (R1 and R2). Morphological CT features included: tumor size, hepatic satellite lesions, lymph node and distant metastases. Radiomic features (RF) were compared across CT protocols and readers. Univariate analysis against overall survival (OS) warranted ranking and selection of RF into radiomic signature (RSign), which was dichotomized into high and low-risk strata (RSign*). Models without and with RSign* (Model 1 and 2, respectively) were compared., Results: Among 78 patients (median follow-up 262 days, IQR 73-957), 62/78 (79%) died during the study period, 46/78 (59%) died within 1 year. Up to 10% RF showed variability across CT protocols; 37/108 (34%) RF showed variability due to manual segmentation. RSign stratified OS (univariate: HR 1.37 for R1, HR 1.28 for R2), RSign* was different between readers (R1 0.39; R2 0.57). Model 1 showed AUC 0.71, which increased in Model 2: AUC 0.81 (p < 0.001) and AIC 89 for R1, AUC 0.81 (p = 0.001) and AIC 90.2 for R2., Conclusion: The use of RF into a unified RSign score stratified OS in patients with IMCC. Dichotomized RSign* classified survival strata, its inclusion in risk models showed adjunct yield. The cut-off value of RSign* was different between readers, suggesting that the use of reference values is hampered by interobserver variability., (© 2021. The Author(s).)

Background: Medullary sponge kidney (MSK) is a rare disease characterized by cystic dilatation of papillary collecting ducts. Intravenous urography is still considered the gold standard for diagnosis. We identified a cohort of patients from our outpatient clinic with established diagnosis of MSK to outline some ultrasonographic characteristics that may help establish a diagnosis., Methods: We conducted a retrospective study of patients seen between January 1st 2009 and January 1st 2019 in our clinic. Out of 4321 patients, 18 had a diagnosis of MSK. We reviewed their clinical and family history, laboratory data and imaging studies. Specifically, we focused on ultrasound imaging., Results: Patients were referred to our outpatient clinic because of renal impairment (44%), family history of nephropathy (17%), nephrolithiasis or an established diagnosis of MSK (39%). Seventy-two percent of patients presented with chronic kidney disease, 22% required hemodialysis. Urinary tract infections (44%), nephrolithiasis (33%), microscopic hematuria (50%) and proteinuria (44%) were reported. Seven patients underwent computed tomography; all of them received ultrasound. Ultrasound examination showed bilateral renal cysts, usually small and located in the renal medulla, and microcalcifications located in the medulla or within the cysts., Conclusion: We identified a peculiar tetrad associated with MSK: 1) hypoechoic medullary areas, 2) hyperechoic spots, 3) microcystic dilatation of papillary zone, 4) multiple calcifications (linear, small stones or calcified intracystic sediment) in each papilla. The presence of this diagnostic tetrad, added to laboratory data and clinical history, could be helpful in the differential diagnosis to identify patients with MSK.

Sensitivity to endocrine therapy of patients with estrogen receptor (ER)-positive metastatic breast cancer and germline BRCA1/2 mutations is not yet fully elucidated. Furthermore, the registration trials of CDK 4/6 inhibitors in combination with endocrine therapy lacked of a pre-specified subgroup analysis in BRCA1/2 mutation carriers. We report clinical history of two patients with BRCA-mutated, ER-positive metastatic breast cancer treated with letrozole plus the CDK 4/6 inhibitor palbociclib. Biological and clinical implications of the treatment outcome observed in the two cases are discussed with the knowledge of scientific evidence to date available. Overall, biological rationale, preclinical, and clinical data support the prominent role of CDK 4/6 inhibitors plus endocrine therapy, even in combination with PARP inhibitors, in the treatment of BRCA-mutated, ER-positive breast cancers. However, the interaction between Cyclin/CDK pathway, ER and BRCA is complex and evidences reported so far, albeit reliable, await confirmation in the context of future randomized clinical trials.

We describe a case of a 90-year-old male admitted to the emergency department with deep vein thrombosis and central acute pulmonary embolism. Despite a remarkably increased value of D-dimer and a modestly elevated concentration of cardiac troponin I, the value of B-type natriuretic peptide was found to be non-diagnostic. Limited to this single case report, our evidence suggests that the measurement of natriuretic peptides is questionable for diagnosing central acute pulmonary embolism in the emergency department.

Background: A fatal pulmonary tumor microembolism is rarely caused by an occult gastric cancer., Methods and Results: We report the case of a 40-year-old woman who died after 3 days of progressive dyspnea, cough, and pulmonary hypertension. Postmortem examination demonstrated the presence of an occult diffuse-type gastric carcinoma, which had caused emboli in about 80% of small pulmonary arteries and arterioles. Despite an interatrial defect in the fossa ovalis, no parenchymal metastases were documented., Conclusion: Pulmonary tumor microembolism may be suspected in patients complaining of unexplained progressive dyspnea and who develop acute or subacute cor pulmonale.