Haematologica: Leukemia-inducing syndromes are major cause of hereditary cytopenias in children

Background: Long-term cytopenia is a nonspecific sign with a broad differential diagnosis, including acquired and inherited disorders

Background: Long-term cytopenia is a nonspecific sign with a broad differential diagnosis, including acquired and inherited disorders

Classical hereditary bone marrow failure syndrome (IBMFS) is recognized as a cause of myeloid malignancies

Accurate diagnosis of genetic syndromes that predispose to leukemia has important therapeutic implications, including intensive follow-up of patients; this may require annual bone marrow examinations

When a single gene is the primary cause of a particular disease, genetic testing can begin with Sanger sequencing

Objectives: We aimed to determine the type and prevalence of genetic causes of persistent cytopenia in children

Methods: The study included children with persistent cytopenia, myelodysplastic syndrome, aplastic anemia, or suspected hereditary bone marrow failure syndrome who were referred to all pediatric blood centers in Israel between 2016-2019 Genetic evaluation

RESULTS: A total of 189 children with persistent cytopenias underwent genetic evaluation

Table Clinical features of patients diagnosed with hereditary bone marrow failure syndrome (diagnosed by Sanger sequencing)

Table 2 Clinical characteristics of patients diagnosed with hereditary bone marrow failure syndrome (diagnosed by the NGS team)

Table 2 Clinical characteristics of patients diagnosed with hereditary bone marrow failure syndrome (diagnosed by the NGS team)

Table 3 Clinical characteristics of patients with myelodysplastic syndromes

Table 3 Clinical characteristics of patients with myelodysplastic syndromes

Table 4 Clinical characteristics of patients with isolated thrombocytopenia

Table 4 Clinical characteristics of patients with isolated thrombocytopenia

CONCLUSIONS: Of the 189 children with persistent cytopenia, almost one-third had an underlying genetic disorder; 79.

CONCLUSIONS: Of the 189 children with persistent cytopenia, almost one-third had an underlying genetic disorder; 79.

Gilad O, Dgany O, Noy-Lotan S, et al.

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