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| ID | Type | Description | Link |
|---|---|---|---|
| EWOG-MDS-RC-06 | Other Identifier | University Hospital Freiburg |
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RATIONALE: Studying biopsy, bone marrow, and blood samples from patients with cytopenia that did not respond to treatment may help doctors learn more about the disease and plan the best treatment.
PURPOSE: This laboratory study is assessing immune function in young patients with cytopenia that did not respond to treatment.
OBJECTIVES:
Primary
Secondary
OUTLINE: This is an open-label, multicenter, nonrandomized, prospective study.
Patients undergo biopsy, bone marrow, and blood sample collection periodically for immunological studies. Samples are analyzed for TCR V beta repertoire and paroxysmal nocturnal hemoglobinuria (PNH) clone analysis via PCR heteroduplex analysis and immunophenotyping of CD14, CD16 , CD55, CD59, and CD24 expression via flow cytometry.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| polymerase chain reaction | Genetic | |||
| flow cytometry | Other | For analyzing GPI deficient clones full blood will be analyzed by phenotyping using flowcytometry. For that purpose CD14, CD16 and CD24 expression will be evaluated in CD45 positive cells. Erythroid cells will be evaluated for CD55 and CD59 expression searching for clear populations with a lack of GPI-linked molecules. In addition, immunophenotyping using flowcytometry will be performed to evaluate which differentiation stages of the major hematopoietic lineages in BM and PB are associated with TCRVβ repertoire skewing. Comparison between BM and PB will identify which is the optimal compartment to analyze the responsible hematopoietic clones. | ||
| immunologic technique | Other | |||
| biopsy | Procedure |
| Measure | Description | Time Frame |
|---|---|---|
| Number of patients with TCR V beta oligoclonality at diagnosis | 96 months | |
| Immunophenotype of patients with oligoclonal T-cell expansion | 96 months | |
| Number of patients with glycophosphatidylinositol (GPI) deficient clones | 96 months |
| Measure | Description | Time Frame |
|---|---|---|
| Number of patients with molecular response as compared to hematological response after IST | 96 months | |
| Number of patients with HLA-DR15 antigen expression and molecular response as compared to number of patients with other HLA-DR antigens and molecular response |
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DISEASE CHARACTERISTICS:
Diagnosis of refractory cytopenia (RC) including any of the following:
All RC patients included in the EWOG MDS 2006 protocol irrespective of therapy
Patients who have undergone hematopoietic stem cell transplantation (HSCT) may be enrolled on EWOG-MDS SCT RC RIC 06 or EWOG-MDS SCT MDS 06 protocol
PATIENT CHARACTERISTICS:
PRIOR CONCURRENT THERAPY:
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All patients with MDS
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| Name | Affiliation | Role |
|---|---|---|
| Marry M. Van Den Heuvel-Eibrink, MD, PhD | Erasmus Medical Center | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| St. Anna Children's Hospital | Vienna | A-1090 | Austria | |||
| Ghent University |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 25425683 | Derived | Aalbers AM, van den Heuvel-Eibrink MM, Baumann I, Dworzak M, Hasle H, Locatelli F, De Moerloose B, Schmugge M, Mejstrikova E, Novakova M, Zecca M, Zwaan CM, Te Marvelde JG, Langerak AW, van Dongen JJ, Pieters R, Niemeyer CM, van der Velden VH. Bone marrow immunophenotyping by flow cytometry in refractory cytopenia of childhood. Haematologica. 2015 Mar;100(3):315-23. doi: 10.3324/haematol.2014.107706. Epub 2014 Nov 25. | |
| 24786393 |
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Bone Marrow Peripheral blood cells
| 96 months |
| Overall survival | 96 months |
| Failure-free survival | 96 months |
| Ghent |
| B-9000 |
| Belgium |
| University Hospital Motol | Prague | 150 06 | Czechia |
| Arhus Universitetshospital - Skejby | Aarhus | 8200 | Denmark |
| Universitaetskinderklinik - Universitaetsklinikum Freiburg | Freiburg im Breisgau | D-79106 | Germany |
| Our Lady´s Hospital for Sick Children | Dublin | 12 | Ireland |
| Fondazione I.R.C.C.S. Policlinico San Matteo | Pavia | 27100 | Italy |
| Erasmus MC - Sophia Children's Hospital | Rotterdam | 3015 GJ | Netherlands |
| Hospital Sant Joan de Deu | Barcelona | 08950 | Spain |
| University Children's Hospital | Zurich | CH-8032 | Switzerland |
| Derived |
| Aalbers AM, van den Heuvel-Eibrink MM, Baumann I, Beverloo HB, Driessen GJ, Dworzak M, Fischer A, Gohring G, Hasle H, Locatelli F, De Moerloose B, Noellke P, Schmugge M, Stary J, Yoshimi A, Zecca M, Zwaan CM, van Dongen JJ, Pieters R, Niemeyer CM, van der Velden VH, Langerak AW. T-cell receptor Vbeta skewing frequently occurs in refractory cytopenia of childhood and is associated with an expansion of effector cytotoxic T cells: a prospective study by EWOG-MDS. Blood Cancer J. 2014 May 2;4(5):e209. doi: 10.1038/bcj.2014.28. |
| ID | Term |
|---|---|
| D019871 | Dyskeratosis Congenita |
| D005199 | Fanconi Anemia |
| D009190 | Myelodysplastic Syndromes |
| C536353 | VLCAD deficiency |
| D000081003 | Shwachman-Diamond Syndrome |
| D000741 | Anemia, Aplastic |
| ID | Term |
|---|---|
| D000080984 | Congenital Bone Marrow Failure Syndromes |
| D000080983 | Bone Marrow Failure Disorders |
| D001855 | Bone Marrow Diseases |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D012868 | Skin Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D012873 | Skin Diseases, Genetic |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D029502 | Anemia, Hypoplastic, Congenital |
| D000740 | Anemia |
| D049914 | DNA Repair-Deficiency Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D010188 | Exocrine Pancreatic Insufficiency |
| D010182 | Pancreatic Diseases |
| D004066 | Digestive System Diseases |
| D008052 | Lipid Metabolism, Inborn Errors |
| D052439 | Lipid Metabolism Disorders |
| D008068 | Lipomatosis |
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| ID | Term |
|---|---|
| D016133 | Polymerase Chain Reaction |
| D005434 | Flow Cytometry |
| D007158 | Immunologic Techniques |
| D001706 | Biopsy |
| ID | Term |
|---|---|
| D021141 | Nucleic Acid Amplification Techniques |
| D005821 | Genetic Techniques |
| D008919 | Investigative Techniques |
| D002469 | Cell Separation |
| D003584 | Cytological Techniques |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D003592 | Cytophotometry |
| D005470 | Fluorometry |
| D008163 | Luminescent Measurements |
| D010783 | Photometry |
| D002623 | Chemistry Techniques, Analytical |
| D003581 | Cytodiagnosis |
| D013048 | Specimen Handling |
| D003949 | Diagnostic Techniques, Surgical |
| D013514 | Surgical Procedures, Operative |
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