| Disease |
myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML); may occur: 1- de novo,
2- be secondary to treatments with alkylating agents, or
3- in patients with predisposing leukemia syndromes: Fanconi anemia, Kostmann syndrome, Shwachman-Diamond syndrome, Neurofibromatosis type I,Down syndrome, familial monosomy 7; |
| Phenotype / cell stem origin |
MDS cases : more often RAEB/RAEB-T, CMML, or the following specific childhood presentations : juvenile chronic leukemia (JCML), and monosomy 7 syndrome; AML most often M4 or M6 |
| Epidemiology | the most frequent abnormality in childhood myeloid disorders; found in 30% of the MDS and in 4% of the AML; sex/age: 90% of the children with this anomaly are younger than 5 years; before 5 years, there is a majority of boys (3M/2F), with -7 as the sole cytogenetic abnormality; after 5 years, girls are in majority, and the -7/del(7q) is then often associated with additional anomalies |
| Clinics | several clinical forms: the most frequents are JCML and the monosomy 7 syndrome; these disorders have some common features: JCML is defined by clinical and cytological observations; 6 to 24% of JCML children show monosomy 7 in the bone marrow; monosomy 7 syndrome is a cytogenetic-defined entity the therapy related cases of monosomy 7 had been exposed to alkylating agents, they have a myelodysplastic phase preceding acute leukemia with multilineage bone marrow dysplasia. In opposite, therapy including anti-topoisomerase drug induce myelodysplastic syndromes and leukemias with 11q23 abnormalities |
| Cytology | before 5 years, the disease presents as a specific myeloid leukemia characterized by leucocytosis with monocytosis but thrombopenia, anemia in blood and hyperplasia of the bone marrow; for some authors, the diagnosis of monosomy 7 syndrome should be made in any FAB class (principally CMML), whereas the diagnosis of JCML applies to cases of CMML with fetal hemoglobin > 10 %,and with no monosomy 7; the remaining CMML are diagnosed as CMML; for others, a - 7 does not exclude the diagnosis of JCML; however, cases of JCML without visible monosomy 7 appear to have no loss of heterozygosity on chromosome 7 after 5 years, the disease presents as a MDS with cytopenia in blood and hypodysplasia of bone marrow, like in adults |
| Prognosis | slow evolution of the AML in infants before 6 month; for children older than 1 year, the survival is less than 2 years; the European Working Group on MDS in Childhood noted a superior survival for children with MDS having a - 7 alone than for those with other anomalies (3 yr survival of 56% vs 24% ); but this was the reverse in children with AML |
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