title: Dried blood spot sampling for detection of monoclonal immunoglobulin gene rearrangement.
abstract: Molecular methods are important tools for diagnosis and monitoring of many lymphoproliferative disorders. The reliability of lymphoma diagnoses is strikingly different between developed and developing countries, partly due to lack of access to these advanced molecular analyses. To overcome these problems, we propose a new application of dried blood spots (DBS) for detecting clonal B-cell populations in peripheral blood (PB). We ensured that the DBS contained sufficient lymphocytes to perform a PCR-based clonality assay without producing false positives. Using the Namalwa B-cell line, we established that the assay is sensitive enough to detect 200 clonal cells in the analyzed sample. Very similar clonal results were obtained between DNA from DBS and fresh whole blood from patients with B-cell chronic lymphocytic leukemia. B-cell clonality can also be detected in DBS from African children with EBV-associated diseases. This is the first study demonstrating that clonality testing can be performed on DBS samples, thus improving the diagnostic and monitoring options for lymphoproliferative diseases in resource-limited settings.
authors: Department of Surgery, Oncology and Gastroenterology, Section of Immunology and Oncology, AIDS Reference Center, University of Padova, Padova, Italy.
authors: Maria Raffaella
authors: MR
authors: Petrara
authors: Lisa
authors: L
authors: Elefanti
authors: Monica
authors: M
authors: Quaggio
authors: Marisa
authors: M
authors: Zanchetta
authors: Maria Chiara
authors: MC
authors: Scaini
authors: Nestory
authors: N
authors: Masalu
authors: Anita
authors: A
authors: De Rossi
authors: Chiara
authors: C
authors: Menin
mesh_terms: D001402:B-Lymphocytes / Q000378:metabolism / Q000473:pathology; D001800:Blood Specimen Collection / Q000379:methods*; D015322:Gene Rearrangement, B-Lymphocyte; D005803:Genes, Immunoglobulin; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000175:diagnosis / Q000235:genetics; D008228:Lymphoma, Non-Hodgkin / Q000175:diagnosis / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D007143:Immunoglobulin Heavy Chains
keywords: Clonality; Dried blood; EBV; IGH rearrangement; Lymphoproliferative diseases