Caracterización de mutaciones en el gen GATA-1 en pacientes con Síndrome de Down y diagnóstico de mielopoyesis anormal transitoria o leucemia megacarioblástica aguda

Mansini, Adrián P.

doi:10.5546/aap.2013.532

Cited by 4 publications

(1 citation statement)

References 2 publications

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“…Специфическая «усекающая» N-терминальный конец белка мутация в гене GATA1 по типу «стоп кодон» во втором (реже -третьем) экзоне гена приводит к синтезу укороченного белка GATA1s. Укороченный белок имеет сниженную регуляторную активность в отношении терминальной дифференцировки мегака-риоцитов и приводит к накоплению их малодифференцированных предшественников [3][4][5][6].…”

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Cases of transient abnormal myelopoiesis

Klimentova

Чиквина

Хачатрян

2020

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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Transient abnormal myelopoiesis (TAM) is a unique hematological syndrome specific for neonates with Down syndrome. Clinical and hematological manifestations of ТАМ are similar manifestations of acute leukemia, but they may resolve spontaneously by few weeks/months after birth. Summation trisomy 21 and GATA1 mutation in blast clone is a required element for development TAM. Presentation of this syndrome occurs in the first days of life; clinical manifestations may be absent (“silent” TAM) or even lead to death of fetus and neonate. The main interest in the study of this issue is the fact that after spontaneous regression there in 20% of cases at the age of 3–4 years developing acute megakaryoblastic leukaemia (AMKL). The basic transformation factors TAM to AMKL are unknown. In this article we represent 6 cases of TAM identified in Dmitry Rogachev National Research Center for Pediatric Hematology, Oncology, and Immunology from 2012 to 2019. Parents of these patients gave their agreement to use personal data in research and publications.

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unclassified

Cases of transient abnormal myelopoiesis

Klimentova

Чиквина

Хачатрян

2020

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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

Pennella

Cassina

Rossi

et al. 2022

Cancers

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Children with Down syndrome (DS) are at an increased risk of developing clonal myeloproliferative disorders. The balance between treatment intensity and treatment-related toxicity has not yet been defined. We analyzed this population to identify risk factors and optimal treatment. This single-center retrospective study included 78 DS patients <16 years-old with Transient Abnormal Myelopoiesis (TAM, n = 25), Acute Myeloblastic Leukemia (DS-AML, n = 41) of which 35 had classical Myeloid Leukemia associated with DS (ML-DS) with megakaryoblastic immunophenotype (AMKL) and 6 sporadic DS-AML (non-AMKL). Patients with DS-AML were treated according to four BFM-based protocols. Classical ML-DS vs. non-DS-AMKL were compared and the outcome of ML-DS was analyzed according to treatment intensity. Only four patients with TAM required cytoreduction with a 5-year Event-Free Survival probability (EFSp) of 74.4 (±9.1)%. DS-AML treatment-related deaths were due to infections, with a 5-year EFSp of 60.6 (±8.2)%. Megakaryoblastic immunophenotype was the strongest good-prognostic factor in univariate and multivariate analysis (p = 0.000). When compared ML-DS with non-DS-AMKL, a better outcome was associated with a lower relapse rate (p = 0.0002). Analysis of administered treatment was done on 32/33 ML-DS patients who achieved CR according to receiving or not high-dose ARA-C block (HDARA-C), and no difference in 5-year EFSp was observed (p = 0.172). TAM rarely required treatment and when severe manifestations occurred, early intervention was effective. DS-AML good outcome was associated with AMKL with a low relapse-rate. Even if treatment-related mortality is still high, our data do not support the omission of HDARA-C in ML-DS since we observed a trend to detect a higher relapse rate in the arm without HDARA-C.

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Efficacy of Inchinkoto for Liver Cirrhosis in an Infant with Down Syndrome Complicated by Transient Myeloproliferative Disorder

Washio¹,

Takahashi²,

Yamanouchi³

et al. 2017

OJPed

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Several patients with Down syndrome complicated by transient myeloproliferative disorder may develop liver cirrhosis for which no effective therapeutic agent exists. We report the infant with Down syndrome complicated by transient myeloproliferative disorder and liver cirrhosis who was successfully treated by Inchinkoto, the Japanese herbal medicine. In the present case, Inchinkoto appeared to prevent both histological and serological aggravation of liver cirrhosis. To the best of our knowledge, this is the first report of preventive effect of Inchinkoto on liver cirrhosis, and it can be a choice of treatment for infants with Down syndrome complicated by liver cirrhosis.

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Caracterización de mutaciones en el gen GATA-1 en pacientes con Síndrome de Down y diagnóstico de mielopoyesis anormal transitoria o leucemia megacarioblástica aguda

Cited by 4 publications

References 2 publications

Cases of transient abnormal myelopoiesis

Cases of transient abnormal myelopoiesis

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

Efficacy of Inchinkoto for Liver Cirrhosis in an Infant with Down Syndrome Complicated by Transient Myeloproliferative Disorder

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