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

Sponsor
Centre Hospitalier Universitaire, Amiens
Study ID
NCT05714592
Status
Recruiting
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Conditions

  • Clonality
  • Cytogenetics
  • Myeloproliferative Neoplasm
  • Optical Genome Mapping
  • Prognostic Stratification

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Not accepted

Interventions

  • Blood sample — OTHER
    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

Study Details

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).

Key Dates

First listed
Feb 6, 2023
Start date
May 17, 2023
Status verified
May 2026
Primary completion
May 18, 2027
Completion
May 18, 2027

Study Design

Enrollment
300 participants (estimated)
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE

Arms

  • Experimental: Optical genome mapping

Primary Outcome Measure

Number of patients with the same abnormalises detected with both OGM and standard cytogenetics [ Time Frame: one year ]

Central Contacts

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