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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 / Mutation characterization in the GATA-1 gene in patients with Down's Syndrome diagnosed with transient abnormal myelopoiesis or acute megakaryoblastic leukemia
Mansini, Adrián P; Rubio, Patricia L; Rossi, Jorge G; Gallego, Marta S; Medina, Adriana; Zubizarreta, Pedro A; Felice, María S; Alonso, Cristina N.
  • Mansini, Adrián P; s.af
  • Rubio, Patricia L; s.af
  • Rossi, Jorge G; s.af
  • Gallego, Marta S; s.af
  • Medina, Adriana; s.af
  • Zubizarreta, Pedro A; s.af
  • Felice, María S; s.af
  • Alonso, Cristina N; s.af
Arch. argent. pediatr ; 111(6): 0-0, dic. 2013. tab
Article in Spanish | LILACS | ID: lil-694698
Responsible library: AR1.2
RESUMEN
Los pacientes con síndrome de Down tienen un riesgo más elevado de presentar leucemia megacarioblástica aguda (LMCA). Un 10% de los recién nacidos con ese síndrome presentan un cuadro de mielopoyesis anormal transitoria (MAT), indistinguible de la LMCA, que en general remite espontáneamente. En ambos grupos de pacientes se describió una alta incidencia de mutaciones en el gen GATA-1. Se analizaron 14 muestras de ADN de médula ósea (10 MAT/4 LMCA) correspondientes a 13 pacientes con Síndrome de Down mediante PCR y secuenciación, para describir la frecuencia y las características de las mutaciones en el gen GATA-1 en la población estudiada y sus consecuencias a nivel proteico. Se detectaron mutaciones en 10 de 10 MAT y en 3 de 4 LMCA, que a nivel proteico originarían un codón de terminación prematuro (n= 5), alteraciones en el sitio de corte y empalme (splicing) (n= 6) o cambio de secuencia (n= 3). Se confrmó la alta frecuencia de mutaciones en el gen GATA-1 en recién nacidos con Síndrome de Down y MAT o LMCA.
ABSTRACT
Patients with Down's Syndrome have a higher risk of developing acute megakaryoblastic leukemia (AML). Ten per cent of newborn infants with this syndrome have transient abnormal myelopoiesis (TAM), indistinguishable from AML, which generally remits spontaneously. A high incidence of GATA-1 gene mutations was described in both groups of patients. Fourteen bone marrow DNA samples (10 ATM/4 AML) were analyzed by PCR and sequencing; these samples were obtained from 13 patients with Down's Syndrome to describe the rate and mutation characteristics of the GATA-1 gene in the studied population and its consequences at a protein level. Mutations were detected in 10 out of 10 TAM and in 3 out of 4 AML, which at a protein level would result in an early termination codon (n= 5), alterations in the splicing site (n= 6) or sequence change (n= 3). The high rate of GATA-1 gene mutations was confirmed in newborn infants with Down's Syndrome and MAT or AML.
Subject(s)

Full text: Available Index: LILACS (Americas) Main subject: Leukemia, Megakaryoblastic, Acute / Down Syndrome / GATA1 Transcription Factor / Leukemoid Reaction / Mutation Limits: Child, preschool / Female / Humans / Infant / Male / Infant, Newborn Language: Spanish Journal: Arch. argent. pediatr Journal subject: Pediatrics Year: 2013 Type: Article

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Full text: Available Index: LILACS (Americas) Main subject: Leukemia, Megakaryoblastic, Acute / Down Syndrome / GATA1 Transcription Factor / Leukemoid Reaction / Mutation Limits: Child, preschool / Female / Humans / Infant / Male / Infant, Newborn Language: Spanish Journal: Arch. argent. pediatr Journal subject: Pediatrics Year: 2013 Type: Article