Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Application of Optical Genome Mapping to the Risk Stratification and Treatment Optimization of Hematologic Diseases

Meena Naik
,
Nishit Ojha
,
Trilochan Sahoo
,
Amey Panchal
,
Yesheswini Naik
,
Rahul Arora
,
Vishvdeep Khushoo
,
Vasu Babu
,
Nishad Dhakate
,
Poonam Jain
,
Punit Jain
,
Govind Babu
,
Jen Hauenstein
,
Anusha Myelavarapu
,
Beth Matthews
,
Stephen J Wicks
,
Alex Hastie
ORCID logo ,
Alka Chaubey
,
Sandeep Rao
,
Sachin Jadhav
* ORCID logo
Version 1 : Received: 21 February 2024 / Approved: 22 February 2024 / Online: 23 February 2024 (11:04:40 CET)

How to cite: Naik, M.; Ojha, N.; Sahoo, T.; Panchal, A.; Naik, Y.; Arora, R.; Khushoo, V.; Babu, V.; Dhakate, N.; Jain, P.; Jain, P.; Babu, G.; Hauenstein, J.; Myelavarapu, A.; Matthews, B.; Wicks, S.J.; Hastie, A.; Chaubey, A.; Rao, S.; Jadhav, S. Application of Optical Genome Mapping to the Risk Stratification and Treatment Optimization of Hematologic Diseases. Preprints 2024, 2024021332. https://doi.org/10.20944/preprints202402.1332.v1 Naik, M.; Ojha, N.; Sahoo, T.; Panchal, A.; Naik, Y.; Arora, R.; Khushoo, V.; Babu, V.; Dhakate, N.; Jain, P.; Jain, P.; Babu, G.; Hauenstein, J.; Myelavarapu, A.; Matthews, B.; Wicks, S.J.; Hastie, A.; Chaubey, A.; Rao, S.; Jadhav, S. Application of Optical Genome Mapping to the Risk Stratification and Treatment Optimization of Hematologic Diseases. Preprints 2024, 2024021332. https://doi.org/10.20944/preprints202402.1332.v1

Abstract

Structural variations (SVs) play a key role in the pathogenicity of hematological malignancies. Optical genome mapping (OGM) is an emerging technology that enables genome-wide detection of all classes of SVs at a high resolution and sensitivity. Identification of cryptic SVs leading to gene disruption or predicted novel gene fusions could be important drivers for cancer development and/or portend a prognostic relevance, which could be used to modify the treatment plan. A cohort of 106 consented cases that had a successful OGM analysis performed were included in the study. Demographic, clinical, laboratory and treatment data were collected. Routine diagnostic and prognostic testing were done on the peripheral blood and bone marrow aspirate as indicated. Additional samples of peripheral blood and/or bone marrow were sent for OGM testing. OGM led to a change in risk stratification in 17/66 (25.75%) of patients with hematological malignancies, the majority of these patients (15/66, 22.72%), having their risk stratification upgraded with a resulting change in treatment of 14 patients. This study highlights the ability of OGM to detect rare, cryptic and clinically relevant variants that potentially impact disease diagnosis, risk stratification and actionable treatment targets.

Keywords

structural variation; optical genome mapping; cytogenetic; hematological disorders

Subject

Medicine and Pharmacology, Hematology

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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