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2023-10-10

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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/220036

Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome

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https://doi.org/10.1182/bloodadvances.2023009742

Resum

Germ line predisposition in acute myeloid leukemia (AML) has gained attention in recent years because of a nonnegligible frequency and an impact on management of patients and their relatives. Risk alleles for AML development may be present in patients without a clinical suspicion of hereditary hematologic malignancy syndrome. In this study we investigated the presence of germ line variants (GVs) in 288 genes related to cancer predisposition in 47 patients with available paired, tumor-normal material, namely bone marrow stroma cells (n = 29), postremission bone marrow (n = 17), and saliva (n = 1). These patients correspond to 2 broad AML categories with heterogeneous genetic background (AML myelodysplasia related and AML defined by differentiation) and none of them had phenotypic abnormalities, previous history of cytopenia, or strong cancer aggregation. We found 11 pathogenic or likely pathogenic variants, 6 affecting genes related to autosomal dominant cancer predisposition syndromes (ATM, DDX41, and CHEK2) and 5 related to autosomal recessive bone marrow failure syndromes (FANCA, FANCM, SBDS, DNAJC21, and CSF3R). We did not find differences in clinical characteristics nor outcome between carriers of GVs vs noncarriers. Further studies in unselected AML cohorts are needed to determine GV incidence and penetrance and, in particular, to clarify the role of ATM nonsense mutations in AML predisposition.

Matèries

Malalties hematològiques, Càncer, Leucèmia mieloide, Genètica humana

Matèries (anglès)

Hematologic diseases, Cancer, Myeloid leukemia, Human genetics

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Articles publicats en revistes (Fonaments Clínics)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

Citació

GUIJARRO TOMÀS, Francisca, LÓPEZ-GUERRA, Mónica, MORATA, Jordi, BATALLER TORRALBA, Alex, PAZ, Sara, CORNET MASANA, Josep maria, BANÚS MULET, Antònia, CUESTA CASANOVAS, Laia, CARBÓ, José m., CASTAÑO DÍEZ, Sandra, JIMÉNEZ VICENTE, Carlos, CORTÉS BULLICH, Albert, TRIGUERO, Ana, MARTÍNEZ ROCA, Alexandra, ESTEBAN, Daniel, GÓMEZ HERNANDO, Marta, ÁLAMO MORENO, José ramón, LÓPEZ OREJA, Irene, GARROTE I ORDEIG, Marta, RISUEÑO, Ruth m., TONDA, Raúl, GUT, Ivo g., COLOMER PUJOL, Dolors, DÍAZ BEYÀ, Marina, ESTEVE REYNER, Jordi. Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome. _Blood Advances_. 2023. Vol. 7, núm. 19, pàgs. 5799-5811. [consulta: 29 de gener de 2026]. ISSN: 2473-9529. [Disponible a: https://hdl.handle.net/2445/220036]

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