A new c.681dup RUNX1 variant in familial leukemia.
[UNLABELLED] Constitutional gene variants are associated with Familial Platelet Disorder (FPD) and predispose to a variety of hematological malignancies, included Acute Myeloid Leukemia (AML) and, al
APA
Crocioni M, Nardelli C, et al. (2026). A new c.681dup RUNX1 variant in familial leukemia.. Familial cancer, 25(2). https://doi.org/10.1007/s10689-026-00550-7
MLA
Crocioni M, et al.. "A new c.681dup RUNX1 variant in familial leukemia.." Familial cancer, vol. 25, no. 2, 2026.
PMID
41941013
Abstract
[UNLABELLED] Constitutional 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 (c.681dup, p.(Leu228ThrfsTer33)) variant was found in the proband and his affected mother.
[SUPPLEMENTARY INFORMATION] The online version contains supplementary material available at 10.1007/s10689-026-00550-7.
[SUPPLEMENTARY INFORMATION] The online version contains supplementary material available at 10.1007/s10689-026-00550-7.