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Abstract
Because of its unique clinical and biological characteristics, transient abnormal myeloproliferative (TAM) and myeloid leukemia associated with Down syndrome (DS) have been categorized as “myeloid proliferations related to DS” and included in the WHO 2016 classification of myeloid neoplasms. However, we acknowledge the first case in our institution of a phenotypic and cytogenetically normal preterm newborn with neonatal period TAM, presenting trisomy 21 on blasts cells and GATA1 mutation.
He received chemotherapy due to a compromised hepatic condition. Nowadays, 14 months after diagnosis, he is in complete remission (CR) under strict hematological monitoring.
There are 17 reported cases of TAM and/or ML-DS, in patients without DS, acquired trisomy 21 and GATA1 mutation in the existing literature which have not been included in the WHO 2016 classification, thus this clinical case becomes a hematological real challenge. It has been proposed that GATA1 mutation may cooperate with the additional chromosome 21 in the development of myeloid proliferation.
References
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