A new c.681dup RUNX1 variant in familial leukemia
Constitutional RUNX1 gene variants are associated with Familial Platelet Disorder (FPD) and predispose to a variety of hematological malignancies, included Acute Myeloid Leukemia (AML) and, albeit less frequently, Acute Lymphoblastic Leukemia (ALL). In this study, we report on a proband with primary diagnosis of AML, followed by T-ALL after transplant, and a positive familial history for leukemia over three generations. A new heterozygous germline pathogenic RUNX1 (c.681dup, p.(Leu228ThrfsTer33)) variant was found in the proband and his affected mother.
Authors
- Alessandra Pelle (ORCID: https://orcid.org/0000-0002-1193-4875)
- Eloise Beggiato (ORCID: https://orcid.org/0000-0002-2971-7596)
- Valentina Bardelli
- Matteo Olivi (ORCID: https://orcid.org/0000-0002-9497-9349)
- Caterina Matteucci (ORCID: https://orcid.org/0000-0002-9553-4819)
- Giuseppe Lanzarone (ORCID: https://orcid.org/0000-0002-8114-0798)
- Valentina Vigliani
- Anair Graciela Lema Fernandez (ORCID: https://orcid.org/0000-0002-5653-8307)
- Carlotta Nardelli (ORCID: https://orcid.org/0000-0002-3167-4177)
- Valentina Pierini
- Maria Crocioni
- Cristina Mecucci
Institutions
- University of Perugia (IT)
- Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT)
- Fondazione Ricerca Molinette (IT)
- Torino e-district (IT)
- University of Turin (IT)
Publication Details
- Journal
- Familial Cancer
- Published
- 2026-04-06
- DOI
- https://doi.org/10.1007/s10689-026-00550-7
- Primary Topic
- Acute Myeloid Leukemia Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Università degli Studi di Perugia