<i>UBTF</i> tandem duplications in pediatric myelodysplastic syndrome and acute myeloid leukemia: implications for clinical screening and diagnosis Article Swipe
Juan M. Barajas
,
Masayuki Umeda
,
Lisett Contreras
,
Mahsa Khanlari
,
Tamara Westover
,
Michael P. Walsh
,
Emily Xiong
,
Chenchen Yang
,
Brittney A. Otero
,
Marc Arribas-Layton
,
Sherif Abdelhamed
,
Guangchun Song
,
Xiaotu Ma
,
Melvin E. Thomas rd
,
Jing Ma
,
Jeffery M. Klco
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3324/haematol.2023.284683
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3324/haematol.2023.284683
Recent genomic studies in adult and pediatric acute myeloid leukemia (AML) demonstrated recurrent in-frame tandem duplications (TD) in exon 13 of upstream binding transcription factor (UBTF). These alterations, which account for ~4.3% of AMLs in childhood and about 3% in adult AMLs under 60, are subtype-defining and associated with poor outcomes. Here, we provide a comprehensive investigation into the clinicopathological features of UBTF-TD myeloid neoplasms in childhood, including 89 unique pediatric AML and 6 myelodysplastic syndrome (MDS) cases harboring a tandem duplication in exon 13 of UBTF. We demonstrate that UBTF-TD myeloid tumors are associated with dysplastic features, low bone marrow blast infiltration, and low white blood cell count. Furthermore, using bulk and single-cell analyses, we confirm that UBTF-TD is an early and clonal event associated with a distinct transcriptional profile, whereas the acquisition of FLT3 or WT1 mutations is associated with more stem celllike programs. Lastly, we report rare duplications within exon 9 of UBTF that phenocopy exon 13 duplications, expanding the spectrum of UBTF alterations in pediatric myeloid tumors. Collectively, we comprehensively characterize pediatric AML and MDS with UBTF-TD and highlight key clinical and pathologic features that distinguish this new entity from other molecular subtypes of AML.
Related Topics
Concepts
Myeloid leukemia
Myeloid
Tandem exon duplication
Exon
Myelodysplastic syndromes
Phenocopy
Cancer research
Gene duplication
Medicine
Bone marrow
Biology
Pathology
Genetics
Gene
Phenotype
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3324/haematol.2023.284683
- https://haematologica.org/article/download/haematol.2023.284683/76716
- OA Status
- gold
- Cited By
- 2
- References
- 36
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4392287394
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4392287394Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3324/haematol.2023.284683Digital Object Identifier
- Title
-
<i>UBTF</i> tandem duplications in pediatric myelodysplastic syndrome and acute myeloid leukemia: implications for clinical screening and diagnosisWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-02-29Full publication date if available
- Authors
-
Juan M. Barajas, Masayuki Umeda, Lisett Contreras, Mahsa Khanlari, Tamara Westover, Michael P. Walsh, Emily Xiong, Chenchen Yang, Brittney A. Otero, Marc Arribas-Layton, Sherif Abdelhamed, Guangchun Song, Xiaotu Ma, Melvin E. Thomas rd, Jing Ma, Jeffery M. KlcoList of authors in order
- Landing page
-
https://doi.org/10.3324/haematol.2023.284683Publisher landing page
- PDF URL
-
https://haematologica.org/article/download/haematol.2023.284683/76716Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://haematologica.org/article/download/haematol.2023.284683/76716Direct OA link when available
- Concepts
-
Myeloid leukemia, Myeloid, Tandem exon duplication, Exon, Myelodysplastic syndromes, Phenocopy, Cancer research, Gene duplication, Medicine, Bone marrow, Biology, Pathology, Genetics, Gene, PhenotypeTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
2Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 1Per-year citation counts (last 5 years)
- References (count)
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36Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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