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Challenges in accuracy in molecular genetic diagnosis of childhood AML: case series
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  • Fernanda Mota,
  • Silvia Toledo,
  • Francine Tesser-Gamba,
  • Michele Gaboardi de Carvalho Pires,
  • Juliana Thomazini Gouveia,
  • Indhira Oliveira,
  • Nancy da Silva Santos,
  • Elizabete Delbuono,
  • Bruno Nicolaz Rhein,
  • Renata Fittipaldi da Costa Guimarães,
  • Zecchin VG,
  • Maria Lucia Lee,
  • Ana de Sousa
Fernanda Mota
Universidade Federal de Sao Paulo
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Silvia Toledo
Universidade Federal de Sao Paulo
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Francine Tesser-Gamba
Universidade Federal de Sao Paulo
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Michele Gaboardi de Carvalho Pires
Universidade Federal de Sao Paulo
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Juliana Thomazini Gouveia
Universidade Federal de Sao Paulo
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Indhira Oliveira
Universidade Federal de Sao Paulo
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Nancy da Silva Santos
Universidade Federal de Sao Paulo
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Elizabete Delbuono
Universidade Federal de Sao Paulo
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Bruno Nicolaz Rhein
Universidade Federal de Sao Paulo
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Renata Fittipaldi da Costa Guimarães
Oncominas Hospital
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Zecchin VG
Hospital Beneficencia Portuguesa de Sao Paulo
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Maria Lucia Lee
Hospital Beneficencia Portuguesa de Sao Paulo
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Ana de Sousa
Universidade Federal de Sao Paulo

Corresponding Author:[email protected]

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Abstract

Comprehending the genetic background of pediatric Acute Myeloid Leukemia (AML) is the key to risk stratification. Next Generation Sequencing (NGS) technology uses target panels that may detect additional genetic subsets. The study describes the experience of using NGS at an institution. Patients who showed poor outcome aberration were referred to hematopoietic stem cell transplant (HSCT). 11 patients were tested. Aberrations were found in all subjects, indicating referral to HSCT in first remission in 2 cases and helping to outline the genetic features in all cases. NGS is a valuable tool in the precision medicine era and should be widely accessible.