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Simplified Intrafemoral Injections Using Live Mice Allow for Continuous Bone Marrow Analysis

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ERCC6L2-Associated Inherited Bone Marrow Failure Syndrome: A Croatian Experience.

Izabela Kranjcec¹, Nusa Matijasic Stjepovic¹, Katarina Vulin²

¹Department of Oncology and Hematology, Children's Hospital Zagreb, Zagreb, HRV.

|February 5, 2025

Summary

Diagnosing rare inherited bone marrow failure syndromes (IBMFS) is challenging. This study highlights two adolescent females with non-classical ERCC6L2-associated IBMFS, emphasizing early recognition and surveillance for ERCC6L2 variants.

Keywords:

bone marrow failure syndrome genetic testing hematopoetic myelodysplasia leukopenia thrombocytopenia

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Area of Science:

Genetics
Hematology
Oncology

Background:

Inherited bone marrow failure syndromes (IBMFS) are often diagnosed late, complicating management.
Genomic investigations are crucial for accurate diagnosis and effective treatment of IBMFS in children.

Observation:

Two unrelated adolescent females presented with unexplained prolonged bicytopenia and normal physical findings.
Both patients were diagnosed with a rare, non-classical ERCC6L2-associated IBMFS, despite differing clinical trajectories.

Findings:

ERCC6L2-associated disease, typically linked to neurodevelopmental delay and consanguinity, predisposes individuals to myeloid malignancies.
Despite identical genetic findings (bi-allelic ERCC6L2 variants), one patient had a decade of stable disease, while the other rapidly progressed to myelodysplasia requiring stem cell transplant.

Implications:

Early recognition of non-classical ERCC6L2-associated IBMFS is vital.
Active surveillance in patients with bi-allelic ERCC6L2 variants is crucial for timely intervention and management of potential myeloid malignancies.