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

Inherited bone marrow failure syndromes (IBMFS) are often misdiagnosed or lately diagnosed despite thorough medical assessment. Genomic investigations have largely facilitated correct diagnosis and enabled effective management in children with IBMFS. We present two unrelated adolescent females with unexplained prolonged bicytopenia, unremarkable medical history and normal physical findings who were diagnosed with a rare non-classical ERCC6L2-associatedIBMFS. ERCC6L2-associated disease has been so far frequently related to neurodevelopmental delay and consanguinity and, most importantly, recognized as a predisposition syndrome to myeloid malignancies. Despite the same genetic findings, the patients experienced remarkably different clinical courses: over a decade of stable disease versus rapid progression to myelodysplasia requiring allogeneic stem cell transplant. We highlight the importance of early recognition and active surveillance in patients with bi-allelic ERCC6L2 variants.