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Case Reports
. 2025 Jan 5;17(1):e76957.
doi: 10.7759/cureus.76957. eCollection 2025 Jan.

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

Izabela Kranjcec  1 , Nusa Matijasic Stjepovic  1 , Katarina Vulin  2 , Maja Pavlovic  1 , Toni Matic  3 , Roberta Sarkanji-Golub  4 , Gordana Jakovljevic  1 , Jelena Roganovic  1
Affiliations
Case Reports

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

Izabela Kranjcec et al. Cureus. .

Abstract

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.

Keywords: bone marrow failure syndrome; genetic testing; hematopoetic myelodysplasia; leukopenia; thrombocytopenia.

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Conflict of interest statement

Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Children’s Hospital Zagreb Ethical Committee issued approval 01-23/40-1-24. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. Patients' family genetic testing results
See this image and copyright information in PMC

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