Indications for a bone marrow aspiration with or without a trephine biopsy and relevance of other techniques applicable to the aspirate
| Indication | Need for a trephine biopsy | Notes on other useful investigations |
|---|---|---|
| *Unless there is difficulty obtaining a good aspirate. | ||
| †Because Epstein-Barr virus related haemophagocytic syndrome may be associated with a clonal proliferation of neoplastic T cells. | ||
| MDS, myelodysplastic syndrome. | ||
| Investigation of unexplained microcytosis | Only if MDS is suspected | |
| Investigation of unexplained macrocytosis | Only if MDS is suspected | Deoxyuridine suppression test may be useful but is mainly a research technique |
| Investigation of unexplained anaemia | Usually | Cytogenetic analysis if MDS is suspected; ultrastructural examination if congenital dyserythropoietic anaemia is suspected |
| Investigation of unexplained thrombocytopenia | Only if MDS is suspected | |
| Investigation of pancytopenia (including suspected aplastic anaemia) | Yes | Cytogenetic analysis if MDS is suspected; appropriate culture if mycobacterial infection or leishmaniasis is suspected; bone marrow is a useful source of DNA if investigation for Pearson's syndrome is required; cytogenetic analysis if a haemophagocytic syndrome is suspected†|
| Investigation of a leucoerythroblastic blood film and suspected bone marrow infiltration | Yes | Cytogenetic analysis if a haematological neoplasm is suspected; if an abnormal infiltrate is found, immunophenotyping and cytogenetic analysis may be useful; cytogenetic analysis is indicated if a small cell tumour of childhood is suspected because the demonstration of certain specific cytogenetic abnormalities can confirm the diagnosis |
| Investigation of suspected acute leukaemia | No* | Cytogenetic and possibly molecular genetic analysis; immunophenotypic analysis unless cells are clearly myeloid |
| Assessment of remission status after treatment of acute leukaemia | No* | Follow up cytogenetic analysis is only occasionally useful; molecular genetic analysis may be indicated for assessment of minimal residual disease |
| Investigation of suspected MDS or myelodysplastic/ myeloproliferative disorder | Yes | Cytogenetic analysis; investigation of colony forming units if juvenile myelomonocytic leukaemia is suspected |
| Investigation of suspected chronic myeloid leukaemia | No* | Cytogenetic analysis; molecular genetic analysis is not indicated because it can be performed, when necessary, on peripheral blood cells |
| Follow up of chronic myeloid leukaemia | No | Cytogenetic analysis |
| Investigation of suspected myeloproliferative disorder (polycythaemia rubra vera, essential thrombocythaemia, idiopathic myelofibrosis, or systemic mastocytosis) | Yes | Cytogenetic analysis; investigation of colony forming units (erythropoietin independent burst forming units) may be useful but in most centres is not a routine diagnostic test |
| Investigation of chronic lymphocytic leukaemia | Yes | Immunophenotyping is not indicated because it can be performed easily on the peripheral blood |
| Investigation of suspected non-Hodgkin's lymphoma | Yes | If an abnormal infiltrate is present, immunophenotyping, molecular analysis and cytogenetic analysis may be needed |
| Diagnosis and follow up of hairy cell leukaemia | Yes | Immunophenotyping, unless there are sufficient circulating cells for it to be performed on peripheral blood cells; tartrate resistant acid phosphatase stain if detailed immunophenotyping is not available |
| Staging of low grade non-Hodgkin's lymphoma (if the results of investigation will alter management) | Yes | Immunophenotyping, unless there are sufficient circulating cells for this to be done on blood cells; cytogenetic and molecular genetic analyses are sometimes useful if the specific type of non-Hodgkin's lymphoma has not already been determined |
| Investigation of multiple myeloma | Generally indicated | Cytogenetic analysis may be useful because demonstration of poor prognosis abnormalities may influence management; immunophenotyping is only needed if cytology of the aspirate is not diagnostic and if it is not certain whether or not a monoclonal plasma cell population is present |
| Staging of high grade non-Hodgkin's lymphoma (in those cases where results of the investigation will alter management) | Yes | |
| Investigations of suspected storage disease | Not essential | |
| Investigation of fever of unknown origin | Yes | Cultures for mycobacteria and also, if there is a possibility of previous exposure, for leishmania and histoplasma |
| In suspected chromosomal disorders in neonates when rapid confirmation is required | No | Cytogenetic analysis (may produce results in 1 day cf. several days if cultured peripheral blood lymphocytes are used) |
| Confirmation of normal bone marrow if bone marrow is being aspirated for allogeneic transplantation | No | |