Mutation characterization in the GATA-1 gene in patients with Down’s Syndrome diagnosed with transient abnormal myelopoiesis or acute megakaryoblastic leukemia

Abstract

Infant walkers are still very popular even though their use might cause injuries. A survey was carried out to obtain information about attitudes and pediatricians' approach regarding the use of infant walkers. Two hundred and forty seven pediatricians who attended the 44 th Turkish Congress of Pediatrics and Europediatrics (2008) were invited to reply to a questionnaire prepared by the authors. Two hundred and twenty six questionnaires replied in full were included. The median age of participants (119 women) was 39 years old (range: 29-58 years old). Out of the total, 4% recommended the use of a walker; 32.2% left the decision to parents' judgment, and 63.7% did not recommend its use. A hundred and five had previously treated an infant who had an injury associated to the use of the walker; out of them, 73.3% did not recommend its use and 57.1% stated that there should be a ban on the sale and manufacture of walkers. Conclusions. Out of the total number of surveyed pediatricians, 4% recommend the use of infant walkers and over 30% leave this decision to parents. Those pediatricians who took care of babies who had an injury associated to the use of a walker were less prone to recommending it.

Prenatal therapy in transient abnormal myelopoiesis: a systematic review

“…In keeping with previous reports, prenatal TAM is associated with a poor prognosis, particularly when associated with hydrops fetalis and liver dysfunction 25. It is not possible to identify positive prognostic features for prenatal TAM, particularly given the mean follow-up time is too short to exclude progression to AML 6. Importantly, overall mortality rates are higher than those published recently for postnatal-onset TAM (up to 20%) 32.…”

“…Progression to AML may reflect the acquisition of additional mutations to GATA1 . Whether disease protection was associated with negative GATA1 mutation analysis was unfortunately not measured 6. The persistence of positive GATA1 analysis postnatally in the case reported here is of uncertain relevance but of interest.…”

“…A retrospective review by Mansini et al , including 10 TAM (1–41 days of age) and 4 AML (9–27 months of age) patients, reported 100% positive rates of GATA1 in all TAM cases. In the neonatal period, eight achieved complete spontaneous remission, with only one subsequently developing AML at 9 months (one case lost to follow-up) 6. These findings do not suggest positive GATA1 mutational analysis is predictive of TAM progression to AML.…”

Clonal Myeloproliferative Disorders in Patients with Down Syndrome—Treatment and Outcome Results from an Institution in Argentina

“…RT-PCR studies for RUNX1-RUNXT1, CBFB-MYH11, and KMT2A-MLLT3 fusion transcripts were performed as previously described [50,51] and were incorporated since December 2002. The analysis of alterations in GATA1 and FLT3 genes was performed by PCR and Sanger sequencing method [52,53]. The last follow-up update was in May-2021.…”

Enfoque diagnóstico de las leucemias mieloides agudas pediátricas

“…En cuanto a las alteraciones moleculares, en ambas entidades se han descrito tanto mutaciones en el gen GATA-1, el cual codifica para un factor de activación de la transcripción que resulta crítico para el normal desarrollo de las ontogenias eritroide y megacariocítica, como alteraciones de la vía celular JAK-STAT [89,90]. Respecto al tratamiento y pronóstico, debido a que estos pacientes tienen una mayor sensibilidad a los medicamentos, obtienen mejores resultados después de la quimioterapia en comparación con los pacientes sin este síndrome genético [46,87,91].…”