Optical Genome Mapping in Routine Cytogenetic Diagnosis of Acute Leukemia Article Swipe
Gwendoline Soler
,
Zangbéwendé Guy Ouedraogo
,
Carole Goumy
,
Benjamin Lebecque
,
Gaspar Aspas Requena
,
Aurélie Ravinet
,
Justyna Kanold
,
Lauren Véronèse
,
Andréï Tchirkov
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/cancers15072131
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/cancers15072131
Cytogenetic aberrations are found in 65% of adults and 75% of children with acute leukemia. Specific aberrations are used as markers for the prognostic stratification of patients. The current standard cytogenetic procedure for acute leukemias is karyotyping in combination with FISH and RT-PCR. Optical genome mapping (OGM) is a new technology providing a precise identification of chromosomal abnormalities in a single approach. In our prospective study, the results obtained using OGM and standard techniques were compared in 29 cases of acute myeloid (AML) or lymphoblastic leukemia (ALL). OGM detected 73% (53/73) of abnormalities identified by standard methods. In AML cases, two single clones and three subclones were missed by OGM, but the assignment of patients to cytogenetic risk groups was concordant in all patients. OGM identified additional abnormalities in six cases, including one cryptic structural variant of clinical interest and two subclones. In B-ALL cases, OGM correctly detected all relevant aberrations and revealed additional potentially targetable alterations. In T-ALL cases, OGM characterized a complex karyotype in one case and identified additional abnormalities in two others. In conclusion, OGM is an attractive alternative to current multiple cytogenetic testing in acute leukemia that simplifies the procedure and reduces costs.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/cancers15072131
- https://www.mdpi.com/2072-6694/15/7/2131/pdf?version=1680575357
- OA Status
- gold
- Cited By
- 17
- References
- 43
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4362560581
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4362560581Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/cancers15072131Digital Object Identifier
- Title
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Optical Genome Mapping in Routine Cytogenetic Diagnosis of Acute LeukemiaWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2023Year of publication
- Publication date
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2023-04-03Full publication date if available
- Authors
-
Gwendoline Soler, Zangbéwendé Guy Ouedraogo, Carole Goumy, Benjamin Lebecque, Gaspar Aspas Requena, Aurélie Ravinet, Justyna Kanold, Lauren Véronèse, Andréï TchirkovList of authors in order
- Landing page
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https://doi.org/10.3390/cancers15072131Publisher landing page
- PDF URL
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https://www.mdpi.com/2072-6694/15/7/2131/pdf?version=1680575357Direct link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
- OA URL
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https://www.mdpi.com/2072-6694/15/7/2131/pdf?version=1680575357Direct OA link when available
- Concepts
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Karyotype, Myeloid leukemia, Cytogenetics, Risk stratification, Acute leukemia, Genome, Biology, Leukemia, Lymphoblastic Leukemia, Oncology, Genetics, Chromosome, Medicine, Cancer research, Internal medicine, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
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17Total citation count in OpenAlex
- Citations by year (recent)
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2025: 5, 2024: 8, 2023: 4Per-year citation counts (last 5 years)
- References (count)
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43Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.additional | 126, 153, 170 |
| abstract_inverted_index.assignment | 112 |
| abstract_inverted_index.attractive | 180 |
| abstract_inverted_index.concordant | 120 |
| abstract_inverted_index.identified | 93, 125, 169 |
| abstract_inverted_index.prognostic | 23 |
| abstract_inverted_index.simplifies | 191 |
| abstract_inverted_index.structural | 134 |
| abstract_inverted_index.subclones. | 141 |
| abstract_inverted_index.targetable | 155 |
| abstract_inverted_index.techniques | 73 |
| abstract_inverted_index.technology | 50 |
| abstract_inverted_index.Cytogenetic | 0 |
| abstract_inverted_index.aberrations | 1, 16, 150 |
| abstract_inverted_index.alternative | 181 |
| abstract_inverted_index.chromosomal | 56 |
| abstract_inverted_index.combination | 38 |
| abstract_inverted_index.conclusion, | 176 |
| abstract_inverted_index.cytogenetic | 30, 116, 185 |
| abstract_inverted_index.karyotyping | 36 |
| abstract_inverted_index.potentially | 154 |
| abstract_inverted_index.prospective | 64 |
| abstract_inverted_index.alterations. | 156 |
| abstract_inverted_index.abnormalities | 57, 92, 127, 171 |
| abstract_inverted_index.characterized | 161 |
| abstract_inverted_index.lymphoblastic | 84 |
| abstract_inverted_index.identification | 54 |
| abstract_inverted_index.stratification | 24 |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 97 |
| corresponding_author_ids | https://openalex.org/A5113484500 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 9 |
| corresponding_institution_ids | https://openalex.org/I4210157800 |
| citation_normalized_percentile.value | 0.96448575 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |