IGH::CCND1 translocation has been implicated as a preliminary finding in mantle cell lymphoma (MCL) and plasma cell myeloma, with cyclin D1 over-expression by immunohistochemistry stain, without gene rearrangement, reported in other hematologic neoplasms. CCND1 rearrangement has been reported infrequently as a secondary event in high-grade B-cell lymphomas. We present the case of an elderly man who was found to have a splenic marginal zone lymphoma with a heterozygous TP53 deletion. Years later at the time of relapse, the patient acquired a CCND1 rearrangement, in addition to a persistent TP53 deletion. Sequencing of the two lymphomas demonstrated clonal relatedness of the two processes. To our knowledge, this is the first report of a splenic marginal zone lymphoma with a TP53 deletion at diagnosis, evolving into a large B-cell lymphoma with a CCND1 rearrangement.
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http://dx.doi.org/10.1007/s00428-024-03946-x | DOI Listing |
Nat Cancer
January 2025
Cancer Systems Biology Laboratory, The Francis Crick Institute, London, UK.
CDKN2A is a tumor suppressor located in chromosome 9p21 and frequently lost in Barrett's esophagus (BE) and esophageal adenocarcinoma (EAC). How CDKN2A and other 9p21 gene co-deletions affect EAC evolution remains understudied. We explored the effects of 9p21 loss in EACs and cancer progressor and non-progressor BEs with matched genomic, transcriptomic and clinical data.
View Article and Find Full Text PDFBlood Res
January 2025
Department of Hematology-Oncology, Inha University College of Medicine and Hospital, 7-206 Third Street, Shinheung-Dong Jung-Gu, Incheon, Republic of Korea.
Purpose: This network meta-analysis aimed to evaluate the relative efficacy of systemic treatments in patients with relapsed/refractory chronic lymphocytic leukemia (R/R CLL), focusing on key genetic mutations, specifically the 17p deletion and TP53 mutations.
Methods: We conducted a systematic literature review to identify all publicly available randomized controlled trials (RCTs) using PubMed, EMBASE, the Cochrane database, and meeting abstracts published through December 2023. A Bayesian network meta-analysis was performed to estimate the hazard ratios (HRs) for progression-free survival (PFS) with 95% confidence intervals (CIs) and to determine the ranking of the included regimens.
Magn Reson Imaging
December 2024
Department of Radiology and Diagnostic Imaging, Nicolaus Copernicus University, Collegium Medicum, Bydgoszcz, Poland.
Background: Brain tumors exhibit diverse genetic landscapes and hemodynamic properties, influencing diagnosis and treatment outcomes.
Purpose: To explore the relationship between MRI perfusion metrics (rCBV, rCBF), genetic markers, and contrast enhancement patterns in gliomas, aiming to enhance diagnostic accuracy and inform personalized therapeutic strategies. Additionally, other radiological features, such as the T2/FLAIR mismatch sign, are evaluated for their predictive utility in IDH mutations.
Blood Cancer J
December 2024
Center for Multiple Myeloma, Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA, USA.
Multiple myeloma (MM) remains incurable despite novel therapeutics. A major contributor to the development of relapsed/refractory and resistant MM is extraosseous extramedullary disease (EMD), whose molecular biology is still not fully understood. We analyzed 528 MM patients who presented to our institution between 2014 and 2021 and who had undergone molecular testing.
View Article and Find Full Text PDFActa Neuropathol Commun
December 2024
Department of Pathology, University of Michigan Medical School, 2800 Plymouth Road, Ann Arbor, MI, 48109, USA.
The mesenchymal transformations of infiltrating gliomas are uncommon events. This is particularly true of IDH-mutant astrocytomas and oligodendrogliomas, in which mesenchymal transformation is exceedingly rare. oligosarcoma is a newly recognized methylation class (MC) that represents transformed 1p/19q co-deleted oligodendrogliomas, but recent studies indicate it may be non-specific.
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