Detection of Testicular Metastasis from Renal Cell Carcinoma on PSMA-PET Scan.

The use of prostate-specific membrane antigen-positron emission tomography (PSMA-PET) is becoming more widespread for the diagnosis and management of prostate cancer. Here we report a case of oligometastatic renal cell carcinoma (RCC) to the testes diagnosed incidentally on PSMA-PET imaging. This case demonstrates the potential for diagnosis of nonprostate disease with PSMA-PET imaging, as well as the promising nature of PSMA-PET for the diagnosis and surveillance of RCC. In addition, this case report discusses the rare occurrence of oligometastatic RCC to the testis.

Large Nasopharyngeal Hairy Polyp Causing Immediate Respiratory Distress at Birth.

This article presents a rare case of a large hairy polyp, a developmental malformation causing a benign tumor, within the nasopharynx. The patient, born with the polyp obstructing the airway, required immediate intubation and a combined transnasal-transoral surgical approach for excision. The case underscores the challenges in diagnosing and managing such polyps, emphasizing the importance of imaging for surgical planning, and the consideration of multiple approaches to ensure complete resection and prevent recurrence. Laryngoscope, 2024.

Linking gene expression to clinical outcomes in pediatric Crohn's disease using machine learning.

Pediatric Crohn's disease (CD) is characterized by a severe disease course with frequent complications. We sought to apply machine learning-based models to predict risk of developing future complications in pediatric CD using ileal and colonic gene expression. Gene expression data was generated from 101 formalin-fixed, paraffin-embedded (FFPE) ileal and colonic biopsies obtained from treatment-naïve CD patients and controls. Clinical outcomes including development of strictures or fistulas and progression to surgery were analyzed using differential expression and modeled using machine learning. Differential expression analysis revealed downregulation of pathways related to inflammation and extra-cellular matrix production in patients with strictures. Machine learning-based models were able to incorporate colonic gene expression and clinical characteristics to predict outcomes with high accuracy. Models showed an area under the receiver operating characteristic curve (AUROC) of 0.84 for strictures, 0.83 for remission, and 0.75 for surgery. Genes with potential prognostic importance for strictures (REG1A, MMP3, and DUOX2) were not identified in single gene differential analysis but were found to have strong contributions to predictive models. Our findings in FFPE tissue support the importance of colonic gene expression and the potential for machine learning-based models in predicting outcomes for pediatric CD.

Aberrant miR-29 is a predictive feature of severe phenotypes in pediatric Crohn's disease.

Crohn's disease (CD) is a chronic inflammatory gut disorder. Molecular mechanisms underlying the clinical heterogeneity of CD remain poorly understood. MicroRNAs (miRNAs) are important regulators of gut physiology, and several have been implicated in the pathogenesis of adult CD. However, there is a dearth of large-scale miRNA studies for pediatric CD. We hypothesized that specific miRNAs uniquely mark pediatric CD. We performed small RNA-Seq of patient-matched colon and ileum biopsies from treatment-naive pediatric patients with CD (n = 169) and a control cohort (n = 108). Comprehensive miRNA analysis revealed 58 miRNAs altered in pediatric CD. Notably, multinomial logistic regression analysis revealed that index levels of ileal miR-29 are strongly predictive of severe inflammation and stricturing. Transcriptomic analyses of transgenic mice overexpressing miR-29 show a significant reduction of the tight junction protein gene Pmp22 and classic Paneth cell markers. The dramatic loss of Paneth cells was confirmed by histologic assays. Moreover, we found that pediatric patients with CD with elevated miR-29 exhibit significantly lower Paneth cell counts, increased inflammation scores, and reduced levels of PMP22. These findings strongly indicate that miR-29 upregulation is a distinguishing feature of pediatric CD, highly predictive of severe phenotypes, and associated with inflammation and Paneth cell loss.

A case of osteoclastic variant of anaplastic thyroid carcinoma: Diagnostic and prognostic marker studies by cytology.

Anaplastic thyroid carcinoma is an infrequent, but aggressive fatal subtype of thyroid cancer. The osteoclastic variant of anaplastic carcinoma is a rare subtype of anaplastic carcinoma with rare cases reported in the literature. Molecular targeted therapies have emerged for the anaplastic carcinoma, necessitating accurate pathologic diagnosis with additional ancillary testing for directing clinical management. We present here the cytological diagnosis of an anaplastic thyroid carcinoma-osteoclastic variant on fine-needle aspiration (FNA), with emphasis on the novelty of utilizing the least invasive procedure (aspiration cytology) for rendering pathological diagnosis as well as identifying potential prognostic markers for targeted immunotherapy.