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Transient myeloproliferative disease develops and may be of concern in fetuses. Features in a review of 39 reported fetal cases include: reduced platelet production often accompanied by significantly reduced levels of circulating platelets; reduced red blood cell production sometimes accompanied by mild anemia; increased levels of circulating megakaryoblasts and white blood cells; grossly ...
Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
The disease is restricted to individuals with Down syndrome or genetic changes similar to those in Down syndrome, develops in a baby during pregnancy or shortly after birth, and resolves within 3 months or, in ~10% of cases, progresses to acute megakaryoblastic leukemia. Transient myeloid leukemia is a pre-leukemic condition. [30] [31] [32]
AMKL, while rare, is the most common form of AML in DS-AMKL, occurring ~500-fold more commonly in Down syndrome children than in children without Down syndrome; non-DS-AMKL and adult-AMLK are rare, accounting for <1% of all individuals diagnosed as in the AML-M7 category of leukemia. [4]
Myeloid proliferations related to Down syndrome: This category includes "transient abnormal myelopoiesis" and "myeloid leukemia associated with Down syndrome". In young children, myeloid leukemia associated with Down syndrome has a much better prognosis than other types of childhood AML. The prognosis in older children is similar to ...
The disease is restricted to individuals with Down syndrome or genetic changes similar to those in Down syndrome, develops during pregnancy or shortly after birth, and resolves within 3 months, or in about 10% of cases, progresses to acute megakaryoblastic leukemia. [33] [30] [34]
An anaphase lag of a chromosome 21 in a Down syndrome embryo leads to a fraction of euploid cells (2n cells), phenomenon described as "aneuploidy rescue". There is considerable variability in the fraction of cells with trisomy 21, both as a whole and tissue-by-tissue. This is the cause of 1–2% of the observed Down syndromes. [4]
Genetic risk factors include: Down syndrome, Fanconi anemia, familial monosomy 7, Shwachman–Diamond syndrome, Bloom Syndrome, as well as mutations in specific gene mutations. [ 3 ] [ 39 ] Besides genetic risk factors, exposure to ionizing radiation is a known risk factor for childhood leukemia.