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BIOMARKER:
IGH mutation
i
Other names: IGH, Immunoglobulin Heavy Locus, Immunoglobulin Heavy Polypeptide, Joining Region, Immunglobulin Heavy Chain Variable Region, Immunoglobulin Heavy Diversity Cluster, Immunoglobulin Heavy Variable Cluster, D (Diversity) Region Of Heavy Chains, Immunoglobulin Heavy Diversity Group, Immunoglobulin Heavy Diversity Locus, Immunoglobulin Heavy Joining Cluster, Immunoglobulin Heavy Variable Group, J (Joining) Region Of Heavy Chains, Immunoglobulin Heavy Joining Group, Immunglobulin Heavy Chain, IGH.1@,
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Specific proteins and phosphopeptides identified here, upon further validation, may serve as biomarkers for early intervention in UM‑CLL. More broadly, our study demonstrates the value of integrated proteomic and phosphoproteomic profiling which may lead to refining risk stratification and advancing understanding of the complex biology underlying CLL progression.
Despite molecular features associated with a favorable prognosis, the severity of his presentation prompted the initiation of therapy after the exclusion of alternative etiologies. This case highlights the diagnostic and therapeutic uncertainty created by atypical symptomatic presentation of CLL and the prognostic ambiguity of IGHV3-21 CLL requiring cautious interpretation.
Acalabrutinib-based regimens, either as monotherapy or combined with obinutuzumab, emerged as the most effective strategies for progression-free survival, followed by other BTK inhibitors and venetoclax-based combinations. Chlorambucil- and Fludarabine-containing regimens ranked lowest...Overall, heterogeneity was low, model fit was robust, and no statistical evidence was detected. These findings support targeted agents as the preferred first-line treatment for IGHV-U CLL and provide a quantitative framework to guide regimen selection while highlighting the need for head-to-head trials and long-term follow-up to optimize treatment sequencing.
28 days ago
Clinical • Retrospective data • Journal • IO biomarker
These findings indicate that the Leader assay provides a more reliable assessment of SHM status, with higher concordance with SS. Although the FR1 assay may offer additional information regarding clonal patterns, its results should be interpreted cautiously. Given the limited sample size, further studies are warranted to validate these findings. Overall, the Leader assay appears to be more suitable as a primary tool for SHM evaluation, with FR1 results serving a complementary role when interpreted in clinical context.
Comorbidities, particularly vascular disease and diabetes mellitus , significantly affect survival outcomes in CLL patients. These findings highlight the importance of integrated management strategies that address both CLL and comorbid conditions, especially in populations with high cardiometabolic risk.
After receiving six cycles of brentuximab+doxorubicin, vinblastine, and dacarbazine (A+AVD) therapy at our Department of Hematology (University of Debrecen), the patient achieved complete metabolic remission (CMR) and remains in good condition. HL-RT in CLL is relatively rare and generally associated with poorer outcomes, though it is typically more favorable than DLBCL-RT. In this case report, we highlight not only an uncommon anatomical location of HL-RT but also the absence of typical predisposing factors, such as a TP53 mutation, unmutated immunoglobulin heavy chain (IGHV) status, or a lack of 13q deletion.
2 months ago
Journal
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TP53 (Tumor protein P53) • IGH (Immunoglobulin Heavy Locus)
Biologically, CD38-negative cnMCLs appear to be more likely driven by CD38-independent, alternative signaling pathways. From a clinical perspective, identification of CD38-negative cnMCLs by flow cytometry may help recognizing patients at increased risk for adverse genetic features, including TP53 inactivation.
This study provides the first comprehensive proteogenomic profile of MCL, offering novel insights into its molecular mechanisms and clinical behavior. The identification of molecular subtypes and prognostic protein signatures underscores the potential of proteomics to guide precision medicine strategies for MCL.
2 months ago
Journal
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CCND1 (Cyclin D1) • IGH (Immunoglobulin Heavy Locus)
IGHV mutation analysis revealed that 25 out of 44 cases were mutated, with 13 of these cases having deletion 13q14 and 3 having trisomy 12. This study characterizes the genetic landscape of a cohort of Indian CLL patients through integrated cytogenetic and molecular analysis, highlighting recurrent aberrations and their distribution within the population.