RB1 deletion

This study provides an overview of the spectrum of germline cytogenetic alterations and clinical features in Mexican patients with RB. Our results expand the understanding of RB in this population and underscore the need for multimodal approaches for the detection and functional characterization of RB1 alterations. This study reports the largest Mexican retinoblastoma cohort with comprehensive germline RB1 characterization and high detection rates, particularly in bilateral disease.

Flow cytometric immunophenotyping demonstrated bright CD45 expression with low side scatter and positivity for CD19, CD20, CD38, CD5, CD79b, and FMC7 with negativity for CD34, CD23, CD200, and CD10, suggesting blastoid transformation of MCL rather than de novo ALL. This case highlights the critical role of flow cytometry in distinguishing blastoid MCL from acute leukemia, thereby preventing misdiagnosis and ensuring appropriate therapeutic decision-making.

Among patients receiving bortezomib, lenalidomide, and dexamethasone (VRd) induction therapy, those with cytogenetic abnormalities showed significantly lower deep response rates (complete response + very good partial response). Furthermore, RB1 deletion or D13S319 deletion combined with other high-risk indicators further shortened PFS. These findings indicate that integrating expanded cytogenetic markers optimises MM risk stratification and provides a basis for individualised treatment strategies.

Conversely, in prostate adenocarcinoma models, DNMT1 deletion leads to de-repression of neuroendocrine lineage genes with a loss of H3K27me3 marks. Our findings reveal a functional interplay between two repressive epigenetic machineries that mediates lineage plasticity in prostate cancer.

The B-ALL patients with concurrent RB1 and IKZF1 deletions had worse outcomes compared to cases without any of these deletions. The RB1 deletion increased the risk of early events in patients with the IKZF1plus profile.

This is similar to well-differentiated NETs of other organs, in particular the small intestine and lung. Overall, our findings support the grouped classification of MeNET within the larger NET scheme.

Combining OGM and NGS analysis refined risk stratification beyond standard FISH panels and supports more precise, individualized management strategies in CLL. Prospective studies are warranted to evaluate the clinical utility of OGM-guided genomic profiling in contemporary treatment paradigms.

The high diagnostic coverage and rapid turnaround of the FISH-based approach underscore its value as a reliable and efficient diagnostic tool in newly diagnosed ALL. The authors have confirmed clinical trial registration is not needed for this submission.

This review provides information about the clinicoradiological features, pathogenesis, histopathology, and management currently available for MPLPS. In addition, we discuss the differential diagnosis of this novel entity.

Thus, at the molecular level, SCL is different from PL/atypical SCLPL. Furthermore, the finding of the same copy number changes (loss of 13q, 6q, 16q, and 17p) in some pleomorphic liposarcomas raises the possibility that a subset of SCLPL/atypical SCLPL have the potential for malignant transformation.

The most frequently mutated gene is NOTCH1. Extensive fusion gene, expression and molecular cluster analyses provide a molecular portrait of this rare and enigmatic tumour type.

Spatially distinct and simultaneous resistance mechanisms, namely, EGFR L718V mutation and SCLC transformation, contributed to osimertinib resistance. The detection of RB1 2.4 kb small deletion in RB1 gene highlights the importance of deep genomic profiling. Multi-site biopsy and molecular diagnostics are necessary to guide treatment decisions in EGFR-TKI-resistant NSCLC.