2018
DOI: 10.1186/s13039-018-0389-x
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An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia

Abstract: BackgroundMyelodysplastic syndrome (MDS) is rare in the pediatric age group and it may be associated with inheritable bone marrow failure (BMF) such as Fanconi anemia (FA). FA is a rare multi-system genetic disorder, characterized by congenital malformations and progressive BMF. Patients with FA usually present chromosomal aberrations when evolving to MDS or acute myeloid leukemia (AML). Thus, the cytogenetic studies in the bone marrow (BM) of these patients have an important role in the therapeutic decision, … Show more

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“…Pediatric MDS are rare and account for 4-9% of all hematologic malignancies. At present it is clear, that in children MDS is mostly associated with inherited conditions, and FA is one of the most common conditions, predisposing to the development of MDS [6].…”
mentioning
confidence: 99%
“…Pediatric MDS are rare and account for 4-9% of all hematologic malignancies. At present it is clear, that in children MDS is mostly associated with inherited conditions, and FA is one of the most common conditions, predisposing to the development of MDS [6].…”
mentioning
confidence: 99%