Bone Marrow Sampling Techniques and Diagnostic Applications

Bone marrow sampling encompasses two principal methods: aspiration of liquid marrow and trephine (core) biopsy. Aspiration involves withdrawal of a small volume of marrow via a fine needle, yielding cells for cytological assessment and rapid molecular or immunophenotypic analysis. Trephine biopsy obtains a cylindrical core of marrow, preserving tissue architecture for histological evaluation, immunohistochemistry and cytogenetics. Sampling is most often performed at the posterior iliac crest under local anaesthesia, with alternative sites including the sternum or vertebral spinous processes in specialised settings. Recent innovations such as battery-powered biopsy systems and image-guided techniques have improved specimen quality, patient comfort and procedural speed. Diagnostic applications span detection and classification of haematological malignancies (leukaemias, lymphomas, myeloma), assessment of marrow cellularity in aplastic or fibrotic states, evaluation of unexplained cytopenias, staging of metastatic disease and monitoring of treatment response. Combined analysis of aspirate and trephine material enhances diagnostic accuracy, with aspirate cytology providing rapid provisional results and core biopsy confirming focal infiltration or architectural abnormalities. Bone marrow sampling remains a cornerstone of global clinical practice, guiding targeted therapies, prognostic stratification and research into marrow microenvironment and clonal evolution.

Research from Nature Portfolio

No recent Nature Portfolio content available.

Research from all publishers

In a 2024 prospective study at a tertiary care centre in Jharkhand, simultaneous aspiration and trephine biopsy in 200 patients demonstrated that aspiration alone suffices for many haematological malignancies, while core biopsy remains essential for focal conditions such as lymphoproliferative disorders, granulomatous lesions and metastatic deposits. The authors recommend concurrent sampling to maximise diagnostic yield.

A 2023 survey of 274 trephine biopsies in Indian patients highlighted procedure-related pain and anxiety as significant challenges. Results revealed that bone texture influenced needle bending and sample size, underlining the need for ergonomic needle designs and refined technique protocols to enhance patient comfort and specimen adequacy.

Analysis of 500 paired aspirate and biopsy specimens from a 2022 single-centre study showed that aspirate evaluation achieved over 95% concordance with biopsy in acute and chronic leukaemias but was insufficient for lymphoma and solid tumour metastases. The study underscores aspirate cytology as a highly sensitive first-line tool, with trephine biopsy indispensable for comprehensive staging and detection of focal marrow involvement.

Bone Marrow Sampling Techniques and Diagnostic Applications publication trend

The graph below shows the total number of articles in bone marrow sampling techniques and diagnostic applications across all publications each year (not limited to Nature Index journals).

Technical terms

Bone marrow aspiration: Withdrawal of liquid marrow for cytological, molecular and immunophenotypic analysis.

Trephine biopsy: Removal of a core of bone and marrow to preserve tissue architecture for histological and immunohistochemical examination.

Cytology: Microscopic examination of individual cells to assess morphology and detect malignant features.

Histology: Study of tissue architecture and cellular organisation within the bone marrow core.

Immunophenotyping: Characterisation of cell surface or intracellular markers using antibody-based methods to classify haematological disorders.

References

1. A prospective survey on trephine biopsy of bone and bone marrow: an experience with 274 Indian patients’ biopsies. European Journal of Medical Research (2023).
2. Using a Powered Bone Marrow Biopsy System Results in Shorter Procedures, Causes Less Residual Pain to Adult Patients, and Yields Larger Specimens. Diagnostic Pathology (2011).
3. Diagnostic importance of bone marrow aspiration evaluation: A single-center study. Pakistan Journal of Medical Sciences (2022).
4. An Extensive Analysis and Comparison of Bone Marrow Aspiration and Bone Marrow Trephine Biopsy at a Tertiary Care Hospital in Jharkhand for Various Hematological and Non-hematological Illnesses. Cureus (2024).
5. Computed Tomography- Guided Bone Marrow Aspiration and Trephine (Core) Biopsy for Hematologists and Oncologists. Biomedical Journal of Scientific & Technical Research (2020).