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Article Dans Une Revue Cancers Année : 2023

Optical Genome Mapping in Routine Cytogenetic Diagnosis of Acute Leukemia

Gwendoline Soler
  • Fonction : Auteur
Zangbéwendé Guy Ouedraogo
Benjamin Lebecque
Gaspar Aspas Requena
  • Fonction : Auteur
Aurélie Ravinet
Justyna Kanold
  • Fonction : Auteur
Andrei Tchirkov
  • Fonction : Auteur

Résumé

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.

Domaines

Cancer

Dates et versions

hal-04209883 , version 1 (18-09-2023)

Identifiants

Citer

Gwendoline Soler, Zangbéwendé Guy Ouedraogo, Carole Goumy, Benjamin Lebecque, Gaspar Aspas Requena, et al.. Optical Genome Mapping in Routine Cytogenetic Diagnosis of Acute Leukemia. Cancers, 2023, 15 (7), pp.2131. ⟨10.3390/cancers15072131⟩. ⟨hal-04209883⟩
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