University of Oulu

Puiggros, A., Ramos-Campoy, S., Kamaso, J., de la Rosa, M., Salido, M., Melero, C., Rodríguez-Rivera, M., Bougeon, S., Collado, R., Gimeno, E., García-Serra, R., Alonso, S., Moro-García, M. A., García-Malo, M. D., Calvo, X., Arenillas, L., Ferrer, A., Mantere, T., Hoischen, A., … Espinet, B. (2022). Optical genome mapping: A promising new tool to assess genomic complexity in chronic lymphocytic leukemia(Cll). Cancers, 14(14), 3376.

Optical genome mapping : a promising new tool to assess genomic complexity in chronic lymphocytic leukemia (CLL)

Saved in:
Author: Puiggros, Anna1,2; Campoy, Silvia Ramos1,2; Kamaso, Joanna1,2;
Organizations: 1Molecular Cytogenetics and Hematological Cytology Laboratories, Pathology Department, Hospital del Mar, 08003 Barcelona, Spain
2Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d’Investigacions Mèdiques (IMIM), 08003 Barcelona, Spain
3Oncogenomic Laboratory, Hematology Service, Lausanne University Hospital, 1011 Lausanne, Switzerland
4Department of Hematology, Consorcio Hospital General Universitario, 46014 Valencia, Spain
5Department of Hematology, Hospital del Mar, 08003 Barcelona, Spain
6Applied Clinical Research in Hematological Malignances, Cancer Research Program, Institut Hospital del Mar d’Investigacions Mèdiques (IMIM), 08003 Barcelona, Spain
7Research Foundation from Hospital General Universitario, 46014 Valencia, Spain
8Department of Hematology, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain
9Laboratory Medicine Department, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain
10Department of Hematology, Hospital Universitario Morales Meseguer, 30008 Murcia, Spain
11Department of Human Genetics, Radboud University Medical Center, 6500 Nijmegen, The Netherlands
12Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, 90570 Oulu, Finland
13Radboud Center for Infectious Diseases (RCI), Department of Internal Medicine and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6532 Nijmegen, The Netherlands
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 3.9 MB)
Persistent link:
Language: English
Published: Multidisciplinary Digital Publishing Institute, 2022
Publish Date: 2023-02-08


Novel treatments in chronic lymphocytic leukemia (CLL) have generated interest regarding the clinical impact of genomic complexity, currently assessed by chromosome banding analysis (CBA) and chromosomal microarray analysis (CMA). Optical genome mapping (OGM), a novel technique based on imaging of long DNA molecules labeled at specific sites, allows the identification of multiple cytogenetic abnormalities in a single test. We aimed to determine whether OGM is a suitable alternative to cytogenomic assessment in CLL, especially focused on genomic complexity. Cytogenomic OGM aberrations from 42 patients were compared with CBA, FISH, and CMA information. Clinical–biological characteristics and time to first treatment (TTFT) were analyzed according to the complexity detected by OGM. Globally, OGM identified 90.3% of the known alterations (279/309). Discordances were mainly found in (peri-)centromeric or telomeric regions or subclonal aberrations (<15–20%). OGM underscored additional abnormalities, providing novel structural information on known aberrations in 55% of patients. Regarding genomic complexity, the number of OGM abnormalities had better accuracy in predicting TTFT than current methods (C-index: 0.696, 0.602, 0.661 by OGM, CBA, and CMA, respectively). A cut-off of ≥10 alterations defined a complex OGM group (C-OGM, n = 12), which included 11/14 patients with ≥5 abnormalities by CBA/CMA and one patient with chromothripsis (Kappa index = 0.778; p < 0.001). Moreover, C-OGM displayed enrichment of TP53 abnormalities (58.3% vs. 3.3%, p < 0.001) and a significantly shorter TTFT (median: 2 vs. 43 months, p = 0.014). OGM is a robust technology for implementation in the routine management of CLL patients, although further studies are required to define standard genomic complexity criteria.

see all

Series: Cancers
ISSN: 2072-6694
ISSN-E: 2072-6694
ISSN-L: 2072-6694
Volume: 14
Issue: 14
Article number: 3376
DOI: 10.3390/cancers14143376
Type of Publication: A1 Journal article – refereed
Field of Science: 3122 Cancers
3111 Biomedicine
Funding: This work was partly supported by grants from Generalitat de Catalunya (17SGR437), Gilead Sciences Fellowship (GLD17/00282), Ministerio de Universisades of Spain (FPU17/00361) and the “Xarxa de Bancs de tumors“ sponsored by Pla Director d’Oncologia de Catalunya (XBTC). R. G-S was supported by a predoctoral contract (ACIF/2021/169) from the Consellería de Innovación, Universidades, Ciencia y Sociedad digital (Generalitat Valenciana). Article Processing Charge of this manuscript was funded by Bionano Genomics, Inc.
Dataset Reference: Detailed chromosome banding analyses, chromosomal microarrays and optical genome mapping profiles are provided in Supplemental Tables. Additional data of the study are available from the corresponding authors on reasonable request.
Copyright information: © 2022 by the authors. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (