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.

3 days ago

Journal • Next-generation sequencing • Tumor mutational burden

TMB (Tumor Mutational Burden) • HRAS (Harvey rat sarcoma viral oncogene homolog) • DNMT3A (DNA methyltransferase 1) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ATRX (ATRX Chromatin Remodeler) • STAG2 (Stromal Antigen 2) • EP400 (E1A Binding Protein P400)

TMB-L • SF3B1 mutation • RB1 deletion • HRAS mutation

12d

Optical Genome Mapping Enhances Structural Variant Detection and Refines Risk Stratification in Chronic Lymphocytic Leukemia. (PubMed, Genes (Basel))

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.

12 days ago

Journal • IO biomarker

TP53 (Tumor protein P53) • BCL2 (B-cell CLL/lymphoma 2) • RB1 (RB Transcriptional Corepressor 1) • CCND1 (Cyclin D1) • IGH (Immunoglobulin Heavy Locus) • BIRC3 (Baculoviral IAP repeat containing 3) • BCL3 (BCL3 Transcription Coactivator) • MIR16 (MicroRNA 16) • MIR15A (MicroRNA 15a) • MIR16-1 (MicroRNA 16-1)

Chr del(11q) • IGH mutation • RB1 deletion

19d

Cytogenomic Abnormalities in Children With Acute Lymphoblastic Leukemia From Western Mexico: A Single-Center Fluorescence In Situ Hybridization-Based Study. (PubMed, EJHaem)

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.

19 days ago

Journal

TP53 (Tumor protein P53) • ABL1 (ABL proto-oncogene 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • CRLF2 (Cytokine Receptor Like Factor 2) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • TCF3 (Transcription Factor 3) • PBX1 (PBX Homeobox 1)

CDKN2A deletion • RB1 deletion

Myxoid Pleomorphic Liposarcoma: A Review and Update. (PubMed, Cancer Genomics Proteomics)

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.

1 month ago

Review • Journal

TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • MDM2 (E3 ubiquitin protein ligase) • CD34 (CD34 molecule) • DDIT3 (DNA-damage-inducible transcript 3)

TP53 mutation • RB1 deletion

2ms

The Role of RB1 and Secondary Genomic Changes in the Development of Spindle Cell and Pleomorphic Lipomas. (PubMed, Genes Chromosomes Cancer)

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.

2 months ago

Journal

TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1)

RB1 deletion

2ms

The molecular cartography of malignant and benign sebaceous tumours. (PubMed, Nat Commun)

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.

2 months ago

Journal • Tumor mutational burden

TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • RB1 (RB Transcriptional Corepressor 1) • NOTCH1 (Notch 1) • POLE (DNA Polymerase Epsilon) • POLD1 (DNA Polymerase Delta 1) • HRNR (Hornerin)

TP53 mutation • TMB-H • MSI-H/dMMR • POLE mutation • RB1 deletion • RB1 mutation • POLD1 mutation

3ms

Tumor heterogeneity involving SCLC with a single exon deletion in RB1 and adenocarcinoma with EGFR-L718V mutation in EGFR-TKI-resistant lung cancer. (PubMed, Lung Cancer)

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.

3 months ago

Journal

TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1)

TP53 mutation • EGFR mutation • EGFR L858R • EGFR expression • RB1 deletion

Tagrisso (osimertinib) • Gilotrif (afatinib)

3ms

Establishment and characterization of a novel cell line ICH-BCPALL-3 from B cell precursor acute lymphoblastic leukemia with TCF3::HLF. (PubMed, Hum Cell)

The cytotoxicity assay indicated that the cell line is sensitive to Aurora Kinase B inhibitor, but not to BCL2 inhibitor. This cell line is the first TCF3::HLF-positive BCP-ALL model without the t(17;19) translocation, facilitating research into leukemogenesis and the development of novel treatments for patients with poor prognosis associated with TCF3::HLF-positive BCP-ALL.

3 months ago

Preclinical • Journal • IO biomarker

KRAS (KRAS proto-oncogene GTPase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • PAX5 (Paired Box 5) • TCF3 (Transcription Factor 3) • NCOR1 (Nuclear Receptor Corepressor 1) • AURKB (Aurora Kinase B) • VPREB1 (V-Set Pre-B Cell Surrogate Light Chain 1) • ARID5B (AT-Rich Interaction Domain 5B)

CDKN2A deletion • RB1 deletion

3ms

A Case of Rare Adipocytic Tumor of the Tongue: Lipoblastoma-Like Tumor With RB1 Gene Deletion. (PubMed, Cureus)

This case highlights the diagnostic challenges of differentiating LLTs from spindle cell lipomas (SCLs), particularly in the context of pRB deficiency and RB1 deletion. This case exemplifies the molecular heterogeneity of neoplasms with lipoblastoma-like features.

3 months ago

Journal

BCL2 (B-cell CLL/lymphoma 2) • RB1 (RB Transcriptional Corepressor 1) • MDM2 (E3 ubiquitin protein ligase) • CDK4 (Cyclin-dependent kinase 4) • CD34 (CD34 molecule) • DDIT3 (DNA-damage-inducible transcript 3) • PLAG1 (PLAG1 Zinc Finger)

RB1 deletion

3ms

Potential Loss of Imprinting of Tumor Suppressor Gene RB1 in Triple Negative Breast Cancer. (PubMed, Breast Cancer Res)

RB1 exhibits potential LOI in TNBCs, laying the groundwork for more precise subtyping and treatment of TNBC patients.

3 months ago

Journal

RB1 (RB Transcriptional Corepressor 1) • CDK4 (Cyclin-dependent kinase 4)

RB1 deletion

3ms

A rare case of cellular angiofibroma with sarcomatous transformation occurred in the popliteal fossa. (PubMed, Discov Oncol)

This report highlights a rare and extraordinary case of CAS identified in the popliteal fossa. Through NGS, we had identified concurrent deletions of the RB1 and TP53 genes. Although the prognosis of this case was slightly worse than that reported in the literature, it provides additional evidence for expanding the known anatomical range of CAF.

3 months ago

Journal

TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • MDM2 (E3 ubiquitin protein ligase) • CDK4 (Cyclin-dependent kinase 4)

RB1 deletion

4ms

Blastic Plasmacytoid Dendritic Cell Neoplasm: A Case Report. (PubMed, Iran J Pathol)

Extensive testing, including a bone marrow (BM) smear and biopsy, revealed numerous abnormal or blastic cells. Furthermore, flow cytometric analysis of the BM confirmed the presence of plasmacytoid dendritic cell-neoplastic precursor cells exhibiting CD4+ and CD56+ characteristics.

4 months ago

Journal

TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • CD123 (Interleukin 3 Receptor Subunit Alpha) • CD4 (CD4 Molecule) • NCAM1 (Neural cell adhesion molecule 1) • IL3RA (Interleukin 3 Receptor Subunit Alpha) • CDKN1B (Cyclin dependent kinase inhibitor 1B)

RB1 deletion