Evaluation of Optical Genome Mapping in Phi Negative Myeloproliferative Neoplasia in the Detection of Acquired Cytogenetic Abnormalities
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Blood sample.
- Who it may be relevant to
- Registry conditions: Myeloproliferative Neoplasm, Optical Genome Mapping, Cytogenetics, Clonality. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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).
Interventions
- 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
Primary outcome measures
- Number of patients with the same abnormalises detected with both OGM and standard cytogenetics [Time frame: one year]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Basic science
Study locations
France · 1 center
- Centre Hospitalier Universitaire d'Amiens — Amiens
Identifiers
NCT: NCT05714592 · PI2022_843_0023