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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:
5d
Proteomic and phosphoproteomic signatures of disease progression in unmutated IGHV chronic lymphocytic leukemia. (PubMed, Clin Proteomics)
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.
Journal
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IGH (Immunoglobulin Heavy Locus)
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IGH mutation
5d
Hemorrhagic Ascites in Chronic Lymphocytic Leukemia With Immunoglobulin Heavy Chain Variable Region 3-21 (IGHV3-21) Usage: A Case Requiring Individualized Treatment. (PubMed, Cureus)
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.
Journal
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IGH (Immunoglobulin Heavy Locus)
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IGH mutation
14d
New P1/2 trial
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TP53 (Tumor protein P53) • IGH (Immunoglobulin Heavy Locus)
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TP53 mutation • IGH mutation
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Venclexta (venetoclax) • Gazyva (obinutuzumab) • Calquence (acalabrutinib)
28d
First-Line Treatment of IGHV-Unmutated Chronic Lymphocytic Leukemia: A Network Meta-Analysis of Targeted and Chemoimmunotherapy Regimens. (PubMed, Eur J Haematol)
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.
Clinical • Retrospective data • Journal • IO biomarker
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IGH (Immunoglobulin Heavy Locus)
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IGH mutation
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Venclexta (venetoclax) • Gazyva (obinutuzumab) • Calquence (acalabrutinib) • Leukeran (chlorambucil) • fludarabine IV
1m
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
1m
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
2ms
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
2ms
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
2ms
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
2ms
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
3ms
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