The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms
Abstract
Chromosomal abnormalities are frequent in myeloid malignancies, but in most cases of myelodysplasia (MDS) and myeloproliferative neoplasms (MPN), underlying pathogenic molecular lesions are unknown. We identified recurrent areas of somatic copy number–neutral loss of heterozygosity (LOH) and deletions of chromosome 4q24 in a large cohort of patients with myeloid malignancies including MDS and related mixed MDS/MPN syndromes using single nucleotide polymorphism arrays. We then investigated genes in the commonly affected area for mutations. When we sequenced TET2, we found homozygous and hemizygous mutations. Heterozygous and compound heterozygous mutations were found in patients with similar clinical phenotypes without LOH4q24. Clinical analysis showed most TET2 mutations were present in patients with MDS/MPN (58%), including CMML (6/17) or sAML (32%) evolved from MDS/MPN and typical MDS (10%), suggesting they may play a ubiquitous role in malignant evolution. TET2 mutations affected conserved domains and the N terminus. TET2 is widely expressed in hematopoietic cells but its function is unknown, and it lacks homology to other known genes. The frequency of mutations in this candidate myeloid regulatory gene suggests an important role in the pathogenesis of poor prognosis MDS/MPN and sAML and may act as a disease gene marker for these often cytogenetically normal disorders.
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In the citing paper
“Mutation of tet methylcytosine dioxygenase 2 (encoded by TET2) drives myeloid malignancy initiation and progression1–3.”
From RNA m5C oxidation by TET2 regulates chromatin state and leukaemogenesis (2024) · cites this paper as [2]
In the citing paper
“TET2 mutations are most commonly observed in human CMML, with somatic loss-of-function mutations in more than 40% of well-annotated CMML patient cohorts (Abdel-Wahab et al., 2009; Jankowska et al., 2009).”
From Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation (2011) · cites this paper as Jankowska et al., 2009
In the citing paper
“subsequent studies identified recurrent TET2 mutations in patients with chronic myelomonocytic leukemia (CMML) and AML (Abdel-Wahab et al., 2009; Jankowska et al., 2009)”
From Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation (2011) · cites this paper as Jankowska et al., 2009
In the citing paper
“TET2 mutations are most common in CMML (Abdel-Wahab et al., 2009; Jankowska et al., 2009)”
From Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation (2011) · cites this paper as Jankowska et al., 2009
In the citing paper
“Although a small subset of leukemia patients present with biallelic TET2 mutations and/or deletions, the majority of patients present with monoallelic TET2 loss (Abdel-Wahab et al., 2009; Jankowska et al., 2009).”
From Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation (2011) · cites this paper as Jankowska et al., 2009
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Citations
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Cited by
TET-mediated active DNA demethylation: mechanism, function and beyond
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Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation
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Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies
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What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer
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Self-citationRNA m5C oxidation by TET2 regulates chromatin state and leukaemogenesis
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Metadata
- Authors
- Jankowska, A. M., Szpurka, H., Tiu, R. V., Makishima, H., Afable, M., Huh, J., O'Keefe, C. L., Ganetzky, R., McDevitt, M. A., & Maciejewski, J. P.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2009-06-18
- Volume
- 113
- Issue
- 25
- Pages
- 6403-6410
- ISSN
- 0006-4971
- 1528-0020
- Cited by
- 331
- References
- 1
- Language
- en
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