Detection of MYD88 L265P mutations in formalin-fixed and decalcified BM biopsies from patients with lymphoplasmacytic lymphoma
| Autor: | Gian Kayser, Martin Werner, Juan Carlos Perazzo, Ianina Belén Capaldi, Annette M. May, Marie Follo, Konrad Aumann, Paul Fisch, Annette Schmitt-Graeff |
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| Rok vydání: | 2014 |
| Předmět: |
Pathology
medicine.medical_specialty Lymphoma B-Cell Biopsy DNA Mutational Analysis Molecular Sequence Data Clinical Biochemistry Lymphoproliferative disorders Polymerase Chain Reaction Pathology and Forensic Medicine Lymphoplasmacytic Lymphoma Immunophenotyping Bone Marrow Formaldehyde hemic and lymphatic diseases medicine Humans Molecular Biology Paraffin Embedding Base Sequence business.industry Reproducibility of Results Waldenstrom macroglobulinemia medicine.disease Lymphoma medicine.anatomical_structure Case-Control Studies Mutation Myeloid Differentiation Factor 88 Bone marrow Waldenstrom Macroglobulinemia business Hematopathology Infiltration (medical) |
| Zdroj: | Experimental and Molecular Pathology. 97:57-65 |
| ISSN: | 0014-4800 |
| Popis: | The diagnosis of bone marrow (BM) infiltration by Waldenström macroglobulinemia (WM)/lymphoplasmacytic lymphoma (LPL) poses a diagnostic challenge in hematopathology. No definitive morphology or immunophenotype is able to distinguish between infiltration of paraffin-embedded BM sections by WM/LPL and other indolent lymphomas, in particular those of the splenic marginal zone (SMZL) which may also show plasmacytic maturation. An oncogenic gain-of-function mutation (L265P) in the human MYD88 gene has been found to be present in most cases of WM/LPL, yet is absent in most other cases of B-cell chronic lymphoproliferative disorders (LPD), including SMZL. Here, we compare two newly developed diagnostic protocols for detection of this mutation in paraffin-embedded archival tissues which are particularly applicable to decalcified BM biopsies. Sanger sequencing can easily detect levels of BM infiltration above 15% by WM lymphoplasmacytic cells, while the allele-specific PCR can detect the L265P mutation in BM infiltrations below 1% of lymphoma cells. We show that these methods are easily applicable to archival BM specimens and markedly improve diagnostic accuracy of BM infiltrations by indolent B-cell lymphomas. |
| Databáze: | OpenAIRE |
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