Evidence map›Paper›PMID 41126357›Full record

ArticleBiomarker research2025

Splenomegaly in de novo acute myeloid leukemia is associated with ASXL1 mutations together with a distinct clinical and gene expression profile.

Francesco Tarantini, Nicoletta Coccaro, Cosimo Cumbo, Immacolata Redavid, Luisa Anelli, Antonella Zagaria, Elisa Parciante, Maria Rosa Conserva, Giuseppina Tota, Crescenzio Francesco Minervini and 14 more

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Article in Biomarker research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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1 citing paper in PubMed.

  1. Article
4 · The record

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5 · Who and what money

Authors and funding

24 authors.

Francesco Tarantini *Department of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Nicoletta Coccaro *Department of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Cosimo Cumbo *Department of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Immacolata RedavidDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Luisa AnelliDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Antonella ZagariaDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Elisa ParcianteDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Maria Rosa ConservaDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Giuseppina TotaDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Crescenzio Francesco MinerviniDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Angela MinerviniDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Mariano Francesco CaratozzoloInstitute of Biomembranes, Bioenergetics and Molecular Biotechnologies, IBIOM - National Research Council - CNR, Bari, Italy.
Flaviana MarzanoInstitute of Biomembranes, Bioenergetics and Molecular Biotechnologies, IBIOM - National Research Council - CNR, Bari, Italy.
Claudia TelegrafoInstitute of Biomembranes, Bioenergetics and Molecular Biotechnologies, IBIOM - National Research Council - CNR, Bari, Italy.
Bachir BalechInstitute of Biomembranes, Bioenergetics and Molecular Biotechnologies, IBIOM - National Research Council - CNR, Bari, Italy.
Anna MesticeDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Vito Pier GagliardiDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Mario DeliaDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Paola CarluccioDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Maria Giovanna MacchiaDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Apollonia TulloInstitute of Biomembranes, Bioenergetics and Molecular Biotechnologies, IBIOM - National Research Council - CNR, Bari, Italy.
Giorgina SpecchiaSchool of Medicine, University of Bari "Aldo Moro", Bari, Italy.
Pellegrino MustoDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy.
Francesco AlbanoDepartment of Precision and Regenerative Medicine, Ionian Area - DiMePRe-J - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", P.Zza G. Cesare, 11, 70124, Bari, Italy. francesco.albano@uniba.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSplenomegaly is an event occurring in a variable range between 10-40% of de novo acute myeloid leukemia (AML), recently linked to poorer prognosis. Studies in murine models have shown that loss of the additional sex combs-like 1 (ASXL1) gene function leads to a significantly enlarged spleen volume, due to an increased infiltration of myeloid cells into the spleen.

methodsIn 58 de novo AML patients presenting with splenomegaly at diagnosis, we evaluated the occurrence of ASXL1 somatic mutations, deepened the molecular profile and conducted high-throughput RNA sequencing, with the aim of unveiling possible peculiar aspects of this rare clinical scenario.

resultsASXL1 mutations (ASXL1mut) were detected in 23/58 (40%) patients, being the most frequently mutated gene, followed by TET2 and NRAS. ASXL1mut cases were significantly older than ASXL1wt (71 vs 64 years old, p = 0.003), showed a significantly higher white blood cells count (31,970/uL vs 17,810/uL, p = 0.044) and a higher platelet count (177,700/uL vs 67,700/uL, p = 0.0006). In contrast, the median bone marrow blasts percentage was lower in the ASXL1mut subset compared to ASXL1wt (36.4% vs 72,1%, p = 0.002). Comparing the gene expression profile of the ASXL1mut and ASXL1wt groups, we found the upregulation of PCDHB2 and LURAP1L/LURAP1L-AS1 (all involved in mechanisms of cellular interaction and migration) genes in the former group, unveiling a role in the splenic infiltration of ASXL1mut leukemic cells.

conclusionsOverall, our data paves the way for further studies of an AML subgroup with a distinctive phenotype, whose prompt identification could improve patient management and therapeutic decision making.

Indexed as

Acute myeloid leukemiaASXL1LURAP1L/LURAP1L-AS1PCDHB2Splenomegaly

Identifiers

PMID41126357
PMCPMC12542016

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