Evaluation of Optical Genome Mapping in Phi Negative Myeloproliferative Neoplasia in the Detection of Acquired Cytogenetic Abnormalities (MYELOCARTOCH)

Standard cytogenetics (CBA +/- FISH) is of diagnostic and prognostic interest in Ph- MPN. However, its value is limited by the low frequency of detected abnormalities. The development of tools to increase the sensitivity of detection of chromosomal alterations is therefore particularly adapted to these pathologies. Optical genome mapping (OGM) is a high resolution "long read" technique that allows the identification of structural and copy number variations at the whole genome level. Several recent studies suggest that OGM is a future tool for cytogenetic characterization of haematological disorders. Its ability to describe structural abnormalities, including balanced ones, represents a major advantage over currently used technologies. Thus, OGM seems to be the key tool for cytogenetics of haematological malignancies in the coming years, making it possible to replace, under certain conditions, not only karyotype and FISH, but CMA and even RT-MLPA for the search for fusion transcripts, thus filling in the gaps in these techniques while maintaining their advantages.

To define the place of this technology in Ph- MPN, the investigators will perform a OGM analysis on patients with Ph-MPN for whom bone marrow exploration is scheduled. These results will be compared with those of standard cytogenetics (CBA +/- FISH).

Study Overview

• Status: Recruiting
• Conditions: Myeloproliferative Neoplasm; Optical Genome Mapping; Cytogenetics; Clonality; Prognostic Stratification
• Intervention / Treatment: Other: Blood sample

• Study Type: Interventional
• Enrollment (Estimated): 300
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Valentin Lestringant, MD; Phone Number: 03 22 08 70 23; Email: Lestringant.valentin@chu-amiens.fr

Study Locations

• France
  • Picardie
    • Amiens, Picardie, France, 80000
      • Recruiting
      • Centre Hospitalier Universitaire d'Amiens
      • Contact: Valentin Lestringant, MD; Phone Number: 03 22 08 70 23; Email: Lestringant.valentin@chu-amiens.fr
      • Principal Investigator: Hélène Guermouche Flament, MD
      • Principal Investigator: Dominique Penther, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Patient 18 years of age or older
• Diagnosis or follow-up of polycythemia vera, essential thrombocythemia or primary or secondary myelofibrosis
• Requires bone marrow cytogenetics at diagnosis or follow-up
• Understanding of the French language
• Information of the patient and collection of no objection
• Person affiliated to a social security regime

Exclusion Criteria:

• Patient with BCR::ABL positive myeloproliferative neoplasia.
• Person with a medical history that may impair the ability to understand the information notice

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Optical genome mapping	Other: Blood sample; The referring haematologist will suggest that the patient participate in the study during the consultation. In these patients, the investigators will perform OGM on the cytogenetic sample

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of patients with the same abnormalises detected with both OGM and standard cytogenetics	Number of patients for whom the OGM finds at least the abnormalises detected by standard cytogenetics.	one year

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire, Amiens
• Collaborators: Centre Henri Becquerel; Hôpital Jeanne de Flandre LIlle

Study record dates

Study Major Dates

• Study Start (Actual): May 17, 2023
• Primary Completion (Estimated): May 18, 2027
• Study Completion (Estimated): May 18, 2027

Study Registration Dates

• First Submitted: January 27, 2023
• First Submitted That Met QC Criteria: January 27, 2023
• First Posted (Actual): February 6, 2023

Study Record Updates

• Last Update Posted (Actual): May 28, 2026
• Last Update Submitted That Met QC Criteria: May 27, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: Myeloproliferative Neoplasm; Clonality; Cytogenetics; Optical genome mapping; Prognostic stratification
• Additional Relevant MeSH Terms: Hematologic Diseases; Bone Marrow Diseases; Hemic and Lymphatic Diseases; Myeloproliferative Disorders; Investigative Techniques; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Blood Specimen Collection
• Other Study ID Numbers: PI2022_843_0023

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No