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Purpose <p>Hypocellular bone marrow may reflect immune mediated aplastic anemia (AA), inherited bone marrow failure syndromes (IBMFS), or hypoplastic myelodysplastic neoplasms (hMDS). Correct classification is essential because prognosis and management differ. We started this study with an aim to compare clinical and morphological features of AA, IBMFS and hMDS in patients with marrow cellularity of≤25 %, and evaluate the need for further testing in line with WHO-2022 criteria’s.</p> Methods <p>This is a retrospective single centre observational cross-section study enrolling all the cases of hypocellular bone marrow diagnosed between January 2023andJune 2025. Cases with age-adjusted marrow cellularity ≤25% were reviewed and classified using an integrated approach combining clinical data, marrow morphology, cytogenetics/targeted testing, and PNH flowcytometry. Continuous variables were compared with non-parametric tests and categorical variables with Fisher’s exact test.</p> Results <p>Thirty-four patients met inclusion criteria (27 AA, 2 IBMFS, 5 hMDS). AA cases were widespread present in all age groups, while IBMFS occurred only in children andhMDS mainly in the older adults except one child. The presence of unequivocal multilineage dysplasia on trephine/aspirate was the strongest discriminator for hMDS (100% hMDS vs 0% AA/IBMFS; p&lt;0.001). Median cellularity was higher in hMDS than AA (≈25% vs ≈15%; p=0.03).PNH testing was limited to the patients exhibiting symptoms of haemolysis, PNH clones were detected in one adult AA patient and in none of the IBMFS/hMDS cases.A positive PNH result supported an immune AA diagnosis. Mild reticulin increase was more frequent in hMDS.</p> Conclusion <p> Careful morphologic assessment using WHO-2022/5th edition criteria, supported by selectively applied ancillary investigations such as PNH flow cytometry, cytogenetics, and genetic testing, may help differentiate hMDS from AA and IBMFS in patients with hypocellular marrow. Early recognition of IBMFS in children remains important because it may influence transplant planning, conditioning strategy, and genetic counselling.</p>

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A Multidisciplinary Approach to Classify Hypocellular Bone Marrow Failure Emphasizing Importance of Morphology in Patient Triaging for Ancillary Studies and Management

  • 期刊论文

  • 发表日期：

    2026年7月8日

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  • Shaurya Vijayran,
  • Rakesh Kumar Gupta,
  • Bhoomika Kaushik,
  • Rahul Satarkar,
  • Nighat Hussain,
  • Ashish Kumar Gupta,
  • Yashita Gupta,
  • P. Aruna,
  • Ankita Simon,
  • Sunil Jondhale,
  • Saroj Bala,
  • Amit Kumar Chowhan

摘要

Purpose

Hypocellular bone marrow may reflect immune mediated aplastic anemia (AA), inherited bone marrow failure syndromes (IBMFS), or hypoplastic myelodysplastic neoplasms (hMDS). Correct classification is essential because prognosis and management differ. We started this study with an aim to compare clinical and morphological features of AA, IBMFS and hMDS in patients with marrow cellularity of≤25 %, and evaluate the need for further testing in line with WHO-2022 criteria’s.

Methods

This is a retrospective single centre observational cross-section study enrolling all the cases of hypocellular bone marrow diagnosed between January 2023andJune 2025. Cases with age-adjusted marrow cellularity ≤25% were reviewed and classified using an integrated approach combining clinical data, marrow morphology, cytogenetics/targeted testing, and PNH flowcytometry. Continuous variables were compared with non-parametric tests and categorical variables with Fisher’s exact test.

Results

Thirty-four patients met inclusion criteria (27 AA, 2 IBMFS, 5 hMDS). AA cases were widespread present in all age groups, while IBMFS occurred only in children andhMDS mainly in the older adults except one child. The presence of unequivocal multilineage dysplasia on trephine/aspirate was the strongest discriminator for hMDS (100% hMDS vs 0% AA/IBMFS; p<0.001). Median cellularity was higher in hMDS than AA (≈25% vs ≈15%; p=0.03).PNH testing was limited to the patients exhibiting symptoms of haemolysis, PNH clones were detected in one adult AA patient and in none of the IBMFS/hMDS cases.A positive PNH result supported an immune AA diagnosis. Mild reticulin increase was more frequent in hMDS.

Conclusion

Careful morphologic assessment using WHO-2022/5th edition criteria, supported by selectively applied ancillary investigations such as PNH flow cytometry, cytogenetics, and genetic testing, may help differentiate hMDS from AA and IBMFS in patients with hypocellular marrow. Early recognition of IBMFS in children remains important because it may influence transplant planning, conditioning strategy, and genetic counselling.