A <i>de novo</i> germline <i>RUNX1</i> variant preceding development of concurrent T-lymphoblastic leukemia and myelodysplastic syndrome.

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.

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 ; : 1-5, 2024 May 11.

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.

Palabras clave

MDS; RUNX1 variant; T-ALL

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2024 Tipo del documento: Article