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A de novo germline RUNX1 variant preceding development of concurrent T-lymphoblastic leukemia and myelodysplastic syndrome.
Wang, Cassandra P; Ferreira, Juanita E; Placek, Alexander; Aguayo-Hiraldo, Paibel; Raca, Gordana; Wood, Brent L; Miller, Karin P; Coates, Thomas; Freyer, David R; Kovach, Alexandra E.
Afiliación
  • Wang CP; Children's Hospital Los Angeles, Cancer and Blood Disease Institute, Los Angeles, CA, USA.
  • Ferreira JE; Department of Pathology & Laboratory Medicine, University of Kentucky College of Medicine, Lexington, KY, USA.
  • Placek A; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
  • Aguayo-Hiraldo P; Children's Hospital Los Angeles, Cancer and Blood Disease Institute, Los Angeles, CA, USA.
  • Raca G; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
  • Wood BL; Transplantation and Cellular Therapy, Hematology/Oncology, Children's Hospital Los Angeles, Los Angeles, CA, USA.
  • Miller KP; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
  • Coates T; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
  • Freyer DR; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
  • Kovach AE; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Leuk Lymphoma ; 65(9): 1357-1361, 2024 Sep.
Article en En | MEDLINE | ID: mdl-38733629
ABSTRACT
Germline variants of the RUNX1 gene are associated with RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies (RUNX1-FPDMM), which is characterized by an increased risk of developing myelodysplastic syndrome (MDS) and/or acute myeloid leukemia. Patients with FPDMM have also been described to develop B- or T-cell acute lymphoblastic leukemia. We present a pediatric patient with RUNX1-FPDMM that evolved into concurrent MDS and T-cell acute lymphoblastic leukemia after a decade of monitoring with serial blood counts. We aim to highlight the treatment challenges and clinical decision-making that may be anticipated in this unique disorder, as well as the potentially curative role for allogenic hematopoietic stem cell transplant in the first complete remission.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes Mielodisplásicos / Mutación de Línea Germinal / Subunidad alfa 2 del Factor de Unión al Sitio Principal / Leucemia-Linfoma Linfoblástico de Células T Precursoras Límite: Child / Female / Humans / Male Idioma: En Revista: Leuk Lymphoma Asunto de la revista: HEMATOLOGIA / NEOPLASIAS Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes Mielodisplásicos / Mutación de Línea Germinal / Subunidad alfa 2 del Factor de Unión al Sitio Principal / Leucemia-Linfoma Linfoblástico de Células T Precursoras Límite: Child / Female / Humans / Male Idioma: En Revista: Leuk Lymphoma Asunto de la revista: HEMATOLOGIA / NEOPLASIAS Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos