Diseases and Abnormalities at or Before Birth

All Conditions

Blood and Lymph Conditions

Symptoms and General Pathology

Rare Diseases

Congenital Abnormalities

Myeloproliferative Disorders

Chromosome Aberrations

Chromosome Disorders

Bone Marrow Diseases

Hematologic Diseases

Genetic Diseases, Inborn

Chronic Myeloproliferative Disorders

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

Blood sample

Valentin Lestringant, MD

Hélène Guermouche Flament, MD

Dominique Penther, MD

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).

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

Number of patients for whom the OGM finds at least the abnormalises detected by standard cytogenetics.

Hôpital Jeanne de Flandre LIlle

Centre Henri Becquerel

Centre Hospitalier Universitaire, Amiens

Neoplasms

Syndrome

Preleukemia

Myelodysplastic Syndromes

Precancerous Conditions

Detlef Haase, MD, Prof.

In myelodysplastic syndromes (MDS) the knowledge about chromosomal aberrations is important for diagnosis, pathogenesis, prognosis and treatment. Usually, chromosomal anomalies in MDS patients are detected in bone marrow cells by chromosome banding analyses of metaphases. Alternatively or additionally they can be diagnosed by Fluorescence-in-Situ-Hybridization (FISH). The investigators here present a novel method for cytogenetic monitoring of MDS patients from peripheral blood which is representative for the clone size in bone marrow cells. The purpose of this prospective multicenter non-interventional diagnostic study is to detect and to follow chromosomal aberrations from peripheral blood closely, to assess karyotype evolution, to detect rare abnormalities and to correlate the molecular-cytogenetic results with peripheral blood counts, bone marrow morphology and treatment modalities and responses.

Chromosomal aberrations in myelodysplastic syndromes (MDS) play a major role in diagnostics, pathogenesis, prognosis, and, more recently, in treatment allocations. Chromosomal anomalies can be detected by conventional chromosome banding analyses of bone marrow metaphases and most of them are provable by Fluorescence in situ hybridization (FISH) of circulating CD34+ progenitor cells from peripheral blood. For this prospective multicenter non-interventional diagnostic study sequential FISH analyses are performed on immunomagnetically enriched circulating CD34+ cells from peripheral blood as follows: A "super-panel" with the probes D7/CEP7, EGR1, CEP8, CEP XY, D20, p53, IGH/BCL2, TEL/AML1, RB1, MLL, 1p36/1q25, CSF1R (all Abbott® probes) is used for initial screening, every 12 months during follow-up and in every case of suspected progression. A smaller "standard-panel" with the probes EGR1, D7/CEP7, CEP8, p53, D20, CEP X/Y, TEL/AML1 - plus if necessary an informative probe of the superpanel- was performed for analyses at short intervals every 2 months in the 1st year and every 3 months during the 2nd and 3rd year. Peripheral blood counts are documented once a month, and full blood counts with the number of peripheral blasts are recommended at the time point of each FISH analysis. Bone marrow biopsies are not part of the study, but they are recommended to be performed every 6 to 12 months in the course of the disease. If a bone marrow biopsy is performed, conventional chromosome banding analyses on bone marrow metaphases and, additionally, FISH analyses of enriched CD34+ bone marrow cells and non-enriched bone marrow cells are performed. The results from peripheral blood are correlated with those of conventional banding and FISH analyses performed on bone marrow samples. The aims of this study are to detect acqired chromosomal aberrations in MDS patients from peripheral blood, to follow these anomalies by frequent analyses, to detect rare aberrations and to observe karyotype evolution from peripheral blood.

Screening and Genetic Monitoring of Patients With Myelodysplastic Syndromes (MDS) Under Different Treatment Modalities by Cytogenetic Analyses of Circulating CD34+Cells

Screening and Genetic Monitoring of Patients With MDS Under Different Treatment Modalities by Cytogenetic Analyses of Circulating CD34+Cells

At each timepoint of FISH analysis the percentage of aberrant interphase nuclei is measured of all (at least 200) interphase nuclei counted.

University Medical Center Goettingen

Institut fuer anwendungsorientierte Forschung und klinische Studien GmbH

Detlef Haase

Heart and Blood Diseases

Immune System Diseases

Multiple Myeloma

Neoplasms, Plasma Cell

Neoplasms by Histologic Type

Hemostatic Disorders

Blood Coagulation Disorders

Vascular Diseases

Paraproteinemias

Blood Protein Disorders

Hemorrhagic Disorders

Lymphoproliferative Disorders

Immunoproliferative Disorders

Antineoplastic Agents

All Drugs and Chemicals

Anti-Infective Agents

Melphalan

Interferons

Interferon-alpha

Administration of interferon alpha as a maintenance treatment following autologous stem cell transplantation

Maintenance treatment with pegylated interferon following autologous stem cell transplantation

Allogeneic stem cell transplantation from an HLA identical related or unrelated donor

Second cycle of high-dose melphalan in subjects without an HLA-identical donor

allogeneic stem cell transplant

Hermann Einsele, M.D.

Stefan Knop, M.D.

Werner Linkesch, MD

Johannes Drach, MD

Orhan Sezer, MD

Orhan Sezer, M.D.

Monika Engelhardt, M.D.

Hans H Wolf, M.D.

Dietrich Peest, M.D.

Michael Pfreundschuh, M.D.

Martin Kropff, MD

Christian Straka, MD

Hannes Wandt, M.D.

Bernd, Metzner

Hans G Mergenthaler, M.D.

Katja Weisel, M.D.

Peter Liebisch, MD

Norbert Frickhofen, M.D.

Hermann Einsele, MD

Volker Kunzmann, MD

Stefan Knop, MD

The study is evaluating whether risk-stratification by the means of a chromosomal aberration provides a tool to discriminate between standard and high risk. Risk-adapted therapy is based on allogeneic stem-cell transplantation for high-risk subjects instead of a second autograft in patients with deletion of chromosome 13 who have an HLA-identical stem cell donor available.

The DSMM V protocol is to compare a consolidation treatment for standard-risk patients not displaying del(13) at initial diagnosis following two cycles of high-dose melphalan 200 mg/m² each supported by autologous stem cell retransfusion with interferon versus PEG-interferon. Patients with del(13) are screened for availability of a fully HLA-matched related or unrelated donor. If patient's informed consent is obtained additionally, he is scheduled to undergo an allogeneic SCT following the first cycle of high-dose melphalan. All other subjects are to proceed to a second course of high-dose melphalan similar to the standard-risk group. Initial cytoreduction is foreseen with four cycles of anthracycline-dexamethasone combination followed by combination therapy with ifosfamide/epirubicine/etoposide for stem-cell collection.

Multi Centre Trial of DSMM for Newly Diagnosed Multiple Myeloma up to 60 Years

Multizentrische Therapiestudie Des Multiplen Myeloms DSMM V Therapieoptimierungs-Studie Der Deutschen Studiengruppe Multiples Myelom für Patienten Bis 60 Jahre im Stadium II/III

University of Wuerzburg

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Evaluation of Optical Genome Mapping in Phi Negative Myeloproliferative Neoplasia in the Detection of Acquired Cytogenetic Abnormalities	NCT05714592	Myeloproliferat... Optical Genome ... Cytogenetics Clonality Prognostic Stra...	Blood sample	18 Years -	Centre Hospitalier Universitaire, Amiens
Screening and Genetic Monitoring of Patients With Myelodysplastic Syndromes (MDS) Under Different Treatment Modalities by Cytogenetic Analyses of Circulating CD34+Cells	NCT01355913	Myelodysplastic... Chromosmal Aber... Karyotype Evolu... Rare Abnormalit... Cytogenetic Mon...		18 Years -	Institut fuer anwendungsorientierte Forschung und klinische Studien GmbH
Multi Centre Trial of DSMM for Newly Diagnosed Multiple Myeloma up to 60 Years	NCT00546988	Multiple Myelom...	allogeneic stem...	18 Years - 60 Years	University of Wuerzburg

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