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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@,
Entrez ID:
2d
Comparative evaluation of two NGS-based assays for somatic hypermutation analysis of IGHV genes in chronic lymphocytic leukemia. (PubMed, Blood Res)
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.
Journal • Next-generation sequencing
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IGH (Immunoglobulin Heavy Locus)
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IGH mutation
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LymphoTrack® Dx IGH Assay
5d
Prevalence and Impact of Cardiovascular Comorbidities on Disease Outcomes in a Middle Eastern Chronic Lymphocytic Leukemia Population: A Retrospective Study at Kuwait Cancer Control Centre. (PubMed, Med Princ Pract)
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.
Retrospective data • Journal
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IGH (Immunoglobulin Heavy Locus)
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IGH mutation
19d
Hodgkin Variant Richter's Transformation in the Absence of Classical Risk Factors: A Rare Case With Spinal Manifestation. (PubMed, Cureus)
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.
Journal
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TP53 (Tumor protein P53) • IGH (Immunoglobulin Heavy Locus)
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TP53 mutation • IGH mutation
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doxorubicin hydrochloride • Adcetris (brentuximab vedotin) • dacarbazine • vinblastine
19d
Absence of CD38 Expression in Mantle Cell Lymphoma Correlates with Distinct Pathological and Genetic Features. (PubMed, Hum Pathol)
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.
Journal • IO biomarker
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TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • CXCR4 (Chemokine (C-X-C motif) receptor 4) • IGH (Immunoglobulin Heavy Locus) • KMT2D (Lysine Methyltransferase 2D) • CD38 (CD38 Molecule) • CD79B (CD79b Molecule) • NOTCH2 (Notch 2) • SOX11 (SRY-Box Transcription Factor 11) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2)
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TP53 mutation • ATM mutation • IGH mutation
27d
Short and complex-Telomeres and genomes in CLL. (PubMed, Br J Haematol)
Br J Haematol 2026 (Online ahead of print). doi: 10.1111/bjh.70317.
Journal
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IGH (Immunoglobulin Heavy Locus)
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Chr del(11q) • IGH mutation
1m
Proteogenomic features define subtypes of mantle cell lymphoma. (PubMed, Blood Adv)
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.
Journal
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CCND1 (Cyclin D1) • IGH (Immunoglobulin Heavy Locus)
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IGH mutation
1m
Unveiling the Genetic and Immunophenotypic Landscape of Chronic Lymphocytic Leukemia in Indian Cohort. (PubMed, Indian J Hematol Blood Transfus)
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.
Journal
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IGH (Immunoglobulin Heavy Locus)
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IGH mutation
2ms
Real-world disease characteristics and frontline treatments used in chronic lymphocytic leukaemia in Bulgaria: An observational cohort study (DESCRIBE). (PubMed, J Int Med Res)
Improving the rate of testing for specific high-risk molecular and genetic markers is vital to enhancing outcomes in patients with chronic lymphocytic leukaemia. In the era of proven efficacy of targeted agents, chemoimmunotherapy should be discouraged, in line with international guidelines.
Observational data • Journal • Real-world evidence • IO biomarker
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TP53 (Tumor protein P53) • BCL2 (B-cell CLL/lymphoma 2) • IGH (Immunoglobulin Heavy Locus)
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Chr del(11q) • IGH mutation
2ms
Clinical, genetic, and familial features of POT1 tumor predisposition syndrome. (PubMed, Cancer)
This analysis provides insights into the clinical features and familial patterns of malignancy of individuals with POT1-TPD. Identification through genetic counseling and augmented cancer screening is paramount.
Journal
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IGH (Immunoglobulin Heavy Locus) • POT1 (Protection of telomeres 1)
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IGH mutation
2ms
Chronic lymphocytic leukemia with IGH/BCL2 fusion and clonal heterogeneity: phenotypic and molecular profiling analysis of a rare case. (PubMed, Ann Hematol)
NGS revealed that a common progenitor cell with BCL2-IgH translocation and mutations in TP53, KMT2A, KMT2C, and KMT2D gave rise to two distinct subclones: one (CD5 + CD23+CD200+) CLL driven by mutations in TNFAIP3 and BCORL1, and the other (CD5-CD23-CD200-) driven by mutations in EP300, NOTCH1, and BCL2. This case highlights the significance of clonal heterogeneity in CLL and underscores the crucial role of MFC, flow sorting, and molecular genetics in diagnosing and understanding the complex evolution of this disease.
Journal • IO biomarker
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TP53 (Tumor protein P53) • BCL2 (B-cell CLL/lymphoma 2) • NOTCH1 (Notch 1) • KMT2A (Lysine Methyltransferase 2A) • IGH (Immunoglobulin Heavy Locus) • KMT2D (Lysine Methyltransferase 2D) • KMT2C (Lysine Methyltransferase 2C) • EP300 (E1A binding protein p300) • TNFAIP3 (TNF Alpha Induced Protein 3) • CD5 (CD5 Molecule) • CD200 (CD200 Molecule) • BCORL1 (BCL6 Corepressor Like 1) • FCER2 (Fc Fragment Of IgE Receptor II)
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TP53 mutation • IGH mutation • MLL mutation
2ms
Have Fixed-Duration (FD) Regimens Delivered on Their Promise in Chronic Lymphocytic Leukemia and What Is the Future of FD Regimens? A Narrative Review. (PubMed, Adv Ther)
Successful fixed-duration regimens in CLL should achieve deep remission (i.e., undetectable minimal residual disease), sustain long-term progression-free survival, decrease the burden of treatment-related adverse events, and allow for re-treatment with minimal risk of drug resistance. Although fixed-duration treatment represents a positive step forward for most patients with CLL/SLL, the currently approved regimens often fall short in patients at high risk of progression. Continued research and development of next-generation drugs is essential to enhance efficacy and safety, ultimately improving outcomes in all patients with CLL/SLL.
Review • Journal • IO biomarker
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TP53 (Tumor protein P53) • IGH (Immunoglobulin Heavy Locus)
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IGH mutation
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Venclexta (venetoclax) • Imbruvica (ibrutinib) • Rituxan (rituximab) • Gazyva (obinutuzumab) • Calquence (acalabrutinib)
2ms
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.
Journal • IO biomarker
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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)
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Chr del(11q) • IGH mutation • RB1 deletion