Optical Genome Mapping in Characterization of Multiple Myeloma

Institut de cancérologie Strasbourg Europe8 enrolled

Overview

The current cytogenetic characterization of Multiple Myeloma (including chromosome and gene abnormalities identification in abnormal plasma cells) encounters some limitations. Indeed current techniques only enable to analyze a limited numbers of predefined abnormalities. New tools that will allow for characterization of abnormalities involved in multiple myeloma development are thus required. The interest of Optical Genome Mapping has already been demonstrated in other hematological diseases. The present study aims at validating Optical Genome Mapping in genetic abnormalities identification for patients with Multiple Myeloma (MM).

For this study, supplementary samples will be collected during bone marrow biopsy performed at MM diagnosis. These will be used for CD138+ Plasma Cell Isolation and sent to GENTYANE (GEnoTYpage and sequencing in AuvergNE) platform in Clermont-Ferrand for Optical Genome Mapping.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Multiple Myeloma

Interventions

Bone Marrow samples collectionOTHER

Bone Marrow samples collection - one ethylenediaminetetraacetic acid (EDTA) tube - for Optical Genome Mapping

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Age ≥ 18 years * Non previously treated Multiple Myeloma (criteria from the International Myeloma Working Group) * Presence of CRAB criteria (Calcium Renal Anemia Bone : Calcemia \> 2.75 mmol/l or \> 0.25 mmol/l higher than the Upper Limit of Normal ; serum creatinine \> 173 μmol/l or creatinine clearance \< 40ml per minute attributed to myeloma ; anemia with hemoglobin value \< 10g/dl or more than 2g/dl below the Lower Limit of Normal, bone lesions with osteolytic lesions or osteoporotic vertebral collapses attributed to myeloma) Exclusion Criteria: * Opposition of the patient * Failure of myelogram * Previous treatment of multiple myeloma (except with corticosteroids) * Failure of FISH * Minor or patients placed under guardianship or supervision * Patients deprived of liberty * Patients placed under judicial protection * Patients that are not able to express their consent * Pregnant and breastfeeding women

Outcomes

Primary Outcomes

Validate the use of Optical Genome Mapping in Multiple Myeloma characterization

Concordance scores for abnormalities detected with Optical Genome Mapping and Fluorescence In Situ Hybridization (FISH)

Time frame: At MM diagnosis

Secondary Outcomes

Evaluate Optical Genome Mapping for identification of genetic abnormalities that are not detected with FISH in Multiple Myeloma

Numbers of genetic abnormalities that are detected with Optical Genome Mapping but not detected with FISH