Approximately 65% of renal cell carcinomas (RCC) are diagnosed at a localized stage. We investigated the chromosome 5q gain impact on disease-free survival (DFS) in RCC patients. Overall, 676 patients with stages 1-2 RCC and having cytogenetic analysis were included. Gain of 5q was observed in 108 patients, more frequently in clear cell (ccRCC) than non-clear cell tumors. Gain of 5q is likely an independent prognostic factor since the concerned patients had a decreased recurrence risk in stages 1-2 RCC, confirmed in multivariable analysis. Detecting 5q gain could enhance recurrence risk assessment, allowing tailored post-surgery surveillance, and reducing unnecessary treatments.

Supplementary Data from Development of a Real-time RT-PCR Assay for Detecting EGFRvIII in Glioblastoma Samples

SummaryGlioblastoma (GBM) is characterized by extensive microvascular hyperproliferation. In addition to supplying blood to the tumor, GBM vessels also provide trophic support to glioma cells and serve as conduits for migration into the surrounding brain promoting recurrence. Here, we enriched CD31-expressing glioma vascular cells (GVC) and A2B5-expressing glioma tumor cells (GTC) from primary GBM and utilized RNA sequencing to create a comprehensive interaction map of the secreted and extracellular factors elaborated by GVC that can interact with receptors and membrane molecules on GTC. To validate our findings, we utilized functional assays, including a novel hydrogel-based migration assay and in vivo mouse models to demonstrate that one identified factor, the little-studied integrin binding sialoprotein (IBSP) enhances tumor growth and promotes the migration of GTC along the vasculature. This perivascular niche interactome will serve a resource to the research community in defining the potential functions of the GBM vasculature.

AIMS:To compare the ability of immunohistochemistry (IHC), multiparameter flow cytometry (MFC) and fluorescence in situ hybridisation (FISH) to detect clonal plasma cells. We also attempted to outline a testing strategy for monitoring multiple myeloma patients.METHODS:A retrospective review was performed on 278 CD138+sorted FISH studies from November 2019 to December 2020 along with their concurrent IHC and MFC results. A p value was computed using McNemar's test for paired data. Association was calculated using the non-parametric Spearman correlation coefficient.RESULTS:Using the Mc Nemar's test for paired data, CD138+sorted FISH studies achieved the highest proportion of positive results and was significantly greater than MFC (63% vs 53%, p=0.01). FISH had more positive results than IHC, although this did not reach statistical significance (60% vs 57%, p=0.34). IHC and MFC had high correlation and high agreement (90.3% agreement, kappa=0.805, p<0.0001). CD138+sorted FISH studies achieved the highest proportion of positive results relative to IHC and MFC, indicating that it may be a reliable marker for clonal plasma cell detection.CONCLUSIONS:While CD138+sorted FISH is primarily used for prognostication, it may be employed as a single test for detection and monitoring clonality in certain scenarios. Further studies are needed to monitor the outcomes of patients with positive FISH and negative IHC and MFC. Additionally, there was high agreement between IHC and MFC, suggesting that performing both tests may not be necessary.

The short (p) arms of acrocentric chromosomes contain chromatin material described as stalks and satellites made up of repetitive DNA sequences including those encoding ribosomal RNA, and correspond to the nucleolar organizer regions (NOR). Satellites observed on non-acrocentric chromosomes are rare aberrations, typically resulting from translocation between the p-arm of an acrocentric chromosome and the distal arm of another chromosome. The phenotypic consequences of such unbalanced rearrangements can vary significantly depending on the size and gene content of the non-acrocentric chromosome involved. Although rearrangement between the heterochromatin region on the distal long (q) arm of the Y chromosome and an acrocentric p-arm is considered a recurrent polymorphism, translocations resulting in sex chromosome p-arm satellites have been rarely described in the literature. We identified a distal Xp satellite (Xps) by karyotype analysis of amniotic fluid in a female fetus after a non-invasive prenatal screen (NIPS) result of "atypical finding on sex chromosomes". Chromosomal microarray analysis revealed an apparent terminal copy number loss of ∼50 kb in size within the chromosome Xp22.33 pseudoautosomal region (PAR1) lacking clinically significant gene content, that likely corresponds to an unbalanced Xp; acrocentric p-arm translocation. Parental karyotype studies revealed satellite material on the distal p-arm of the Y chromosome (Yps) in the father. These findings suggest the satellite observed on the X-chromosome in the proband "relocated" from the paternal Y chromosome likely due to homologous recombination between the Xp and Yp PAR1 during paternal meiosis. A phenotypically normal female baby was delivered without complications. A three-generation pedigree was obtained with plans to perform additional family studies. We identified a rare familial rearrangement with Xp/Yp satellites moving between sex chromosomes that do not appear to have phenotypic effects. These findings also highlight rare structural rearrangements that contribute to "atypical finding" results on NIPS assays.