ArticleBMC genomics2014
Haploinsufficiency of ETV6 and CDKN1B in patients with acute myeloid leukemia and complex karyotype.
Article in BMC genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 28 citations in OpenAlex.
- ETV6 Rearrangement Suppresses CDKN1B Transcription by Disrupting an Intragenic Super-enhancer in Acute Lymphoblastic Leukemia.Cancer research · 2026Article
- Multi-omics analysis of pediatric minimally differentiated acute myeloid leukemia reveals RUNX1-driven stemness and chemoresistance.Leukemia · 2026Article
- Genomic Determinants of Lethality and Therapeutic Vulnerability in Castration-Resistant Prostate Cancer.bioRxiv : the preprint server for biology · 2026Article
- Pandora's Box of AML: HowBiomedicines · 2025Review
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- Genomic landscape of TP53-mutated myeloid malignancies.Blood advances · 2023Article
- A pan-cancer analysis for the oncogenic role of cyclin-dependent kinase inhibitor 1B in human cancers.Discover oncology · 2023Article
- BCL-G: 20 years of research on a non-typical protein from the BCL-2 family.Cell death and differentiation · 2023Review
- Genomic landscape ofmedRxiv : the preprint server for health sciences · 2023Article
- Description of an Institutional Cohort of Myeloid Neoplasms Carrying ETV6-Locus Deletions or ETV6 Rearrangements.Acta haematologica · 2023Article
- Challenging conventional karyotyping by next-generation karyotyping in 281 intensively treated patients with AML.Blood advances · 2021Article
- Co-occurrence of unclassified myeloproliferative neoplasm and giant cell arteritis in a patient treated with allogeneic hematopoietic stem cell transplantation: a case report and literature review.Central-European journal of immunology · 2021Article
- Dysregulation of Dual-Specificity Phosphatases by Epstein-Barr Virus LMP1 and Its Impact on Lymphoblastoid Cell Line Survival.Journal of virology · 2020Article
- Both Methylation and Copy Number Variation Participated in the Varied Expression of PRAME in Multiple Myeloma.OncoTargets and therapy · 2020Article
- Morin Protects Human Respiratory Cells from PMInternational journal of environmental research and public health · 2019Article
- Clonal evolution patterns in acute myeloid leukemia with NPM1 mutation.Nature communications · 2019Article
- Germline ETV6 mutations and predisposition to hematological malignancies.International journal of hematology · 2017Review
- Molecular and genetic alterations associated with therapy resistance and relapse of acute myeloid leukemia.Journal of hematology & oncology · 2017Review
- Phenotypic and molecular insights into CASK-related disorders in males.Orphanet journal of rare diseases · 2015Article
- Haploinsufficient tumor suppressor genes.Advances in medicine and biologyArticle
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAcute myeloid leukemia with complex karyotype (CK-AML) is a distinct biological entity associated with a very poor outcome. Since complex karyotypes frequently contain deletions of the chromosomal region 12p13 encompassing the tumor suppressor genes ETV6 and CDKN1B, we aimed to unravel their modes of inactivation in CK-AML.
resultsTo decipher deletions, mutations and methylation of ETV6 and CDKN1B, arrayCGH, SNP arrays, direct sequencing of all coding exons and pyrosequencing of the 5'UTR CpG islands of ETV6 and CDKN1B were performed. In total, 39 of 79 patients (49%) showed monoallelic deletions of 12p13 according to karyotypic data and 20 of 43 patients (47%) according to genomic profiling. Genomic profiling led to the minimal deleted region covering the 3'-UTR of ETV6 and CDKN1B. Direct sequencing revealed one novel monoallelic frameshift mutation in ETV6 while no mutations in CDKN1B were identified. Furthermore, methylation levels of ETV6 and CDKN1B did not indicate transcriptional silencing of any of these genes. ETV6 and CDKN1B had reduced expression levels in CK-AML patients with deletion in 12p13 as compared to CK-AML without deletion in 12p13, while the other genes (BCL2L14, LRP6, DUSP16 and GPRC5D) located within the minimal deleted region in 12p13 had very low or missing expression in CK-AML irrespective of their copy number status.
conclusionsETV6 and CDKN1B are mainly affected by small monoallelic deletions, whereas mutations and hypermethylation play a minor role in CK-AML. Reduced gene dosage led to reduced gene expression levels, pointing to haploinsufficiency as the relevant mechanism of inactivation of ETV6 and CDKN1B in CK-AML.
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