Summary The bone marrow examination is an essential investigation for the diagnosis and management of many disorders of the blood and bone marrow. The aspirate and trephine biopsy specimens are complementary and when both are obtained, they provide a comprehensive evaluation of the bone marrow. The final interpretation requires the integration of peripheral blood, bone marrow aspirate and trephine biopsy findings, together with the results of supplementary tests such as immunophenotyping, cytogenetic analysis and molecular genetic studies as appropriate, in the context of clinical and other diagnostic findings. Methods for the preparation, processing and reporting of bone marrow aspirates and trephine biopsy specimens can vary considerably. These differences may result in inconsistencies in disease diagnosis or classification that may affect treatment and clinical outcomes. In recognition of the need for standardization in this area, an international Working Party for the Standardization of Bone Marrow Specimens and Reports was formed by the International Council for Standardization in Hematology (ICSH) to prepare a set of guidelines based on preferred best practices. The guidelines were discussed at the ICSH General Assemblies and reviewed by an international panel of experts to achieve further consensus.
Specialist tests provide additional evidence in supporting the diagnosis and that will facilitate the management of the patient. In the case of a patient's clinical phenotype being more severe than the affected members within the immediate family, molecular testing of all family members is useful for confirming the diagnosis and allows an insight into the molecular basis of the abnormality such as a recessive mode of inheritance or a de novo mutation.
These guidelines provide information on how to develop and manage a point-of-care (POCT) service so that reliable haematology results are produced regardless of where the test is performed. Many of the issues addressed here are relevant to POCT within hospitals or health centres; however, the principles are equally applicable to care in the community and doctors' offices. Other aspects discussed in this guideline are the initiation of the service (including indications for and limitations of a POCT service), staff training, type of haematology equipment selected, the blood results, monitoring of quality, accreditation, safety and cost. Equipment selected should generate results that are comparable to those of the local reference laboratory. If a complete independent evaluation of the POCT device has not been performed, the purchaser should perform a local assessment according to the protocol in this document. A literature search should also be undertaken to find independent peer reviewed evaluations on POCT equipment. Often the ideals discussed here may not be achievable in some developing countries but long-term training and education of POCT workers needs to be supported and constantly kept on government agendas to reach the recommendations advised here. Users should interpret these recommendations for their particular POCT needs and setting.
Bone marrow (BM) tissue biopsy evaluation, including trephine biopsy and clot section, is an integral part of BM investigation and is often followed by ancillary studies, in particular immunohistochemistry (IHC). IHC provides in situ coupling of morphological assessment and immunophenotype. The number of different IHC tests that can be applied to BM trephine biopsies and the number of indications for IHC testing is increasing concurrently with the development of flow cytometry and molecular diagnostic methods. An international Working Party for the Standardization of Bone Marrow IHC was formed by the International Council for Standardization in Hematology (ICSH) to prepare a set of guidelines for the standardization of BM IHC based on currently available published evidence and modern understanding of quality assurance principles as applied to IHC in general. The guidelines were discussed at the ICSH General Assemblies and reviewed by an international panel of experts to achieve further consensus and represent further development of the previously published ICSH guidelines for the standardization of BM specimens handling and reports.
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