A de novo germline RUNX1 variant preceding development of concurrent T-lymphoblastic leukemia and myelodysplastic syndrome

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.

Keywords:

• RUNX1 variant
• MDS
• T-ALL

Acknowledgements

This case was presented at the Society for Hematopathology/European Association of Haematopathology (SH/EAHP) Workshop, “Progress in T- and NK-Cell Lymphomas/Leukemias,” as an oral presentation by Dr. Juanita Ferreira, November 11, 2023 in Houston, TX.

Disclosure statement

None of the authors have any conflicts of interests to declare.

Authors’ contributions

CW, JF, DF, and AK contributed equally to manuscript preparation and writing. The remaining authors provided clinical expertise and reviewed the manuscript prior to submission.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.