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Peer-reviewedCC BY 4.0Cancers

Elevated Allele Frequency of a Common Germline PDCD1 Variant Associated with Leukocytosis and Thrombocytopenia in Acute Myeloid Leukemia Treated with HDCT/ASCT

  • Katja Seipel1,2
  • Ranja Leuenberger1
  • Henning Nilius3
  • Michele Hoffmann1
  • Martina Bertschinger1
  • Marie-Noelle Kronig1
  • Ulrike Bacher4
  • Thomas Pabst1
4 affiliations
  1. 1Department of Medical Oncology, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland
  2. 2Department for Biomedical Research, University of Bern, 3008 Bern, Switzerland
  3. 3Department of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland
  4. 4Department of Hematology, University Hospital Bern, 3010 Bern, Switzerland
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Abstract

Background: Germline variants of immune-regulatory genes may affect immune checkpoint functions, disease susceptibility, disease features, and treatment response in acute myeloid leukemia. Methods: We analyzed the prevalence and potential impact of the PDCD1 gene variant rs6710479 in AML patients eligible for high-dose chemotherapy and autologous hematopoietic stem cell transplantation as consolidation treatment in first complete remission. Results: The PDCD1 rs6710479 was prevalent at elevated minor allele frequencies (MAF 0.52) in AML patients, compared to the allele frequencies reported for the European population (MAF 0.43). Baseline blood count profiles differed across PDCD1 genotypes, suggesting a link between PDCD1 rs6710479 and disease-associated levels of thrombocytopenia and leukocytosis. Conclusion: The germline PDCD1 rs6710479 variant may associate with AML disease risk and specific hematological disease features.

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Cite

BibTeXRIS
BibTeX
@article{seipel2026elevated,
  title = {{Elevated Allele Frequency of a Common Germline PDCD1 Variant Associated with Leukocytosis and Thrombocytopenia in Acute Myeloid Leukemia Treated with HDCT/ASCT}},
  author = {Katja Seipel and Ranja Leuenberger and Henning Nilius and Michele Hoffmann and Martina Bertschinger and Marie-Noelle Kronig and Ulrike Bacher and Thomas Pabst},
  journal = {Cancers},
  year = {2026},
  month = nov,
  doi = {10.3390/cancers18213537},
  url = {https://www.mdpi.com/2072-6694/18/21/3537},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Elevated Allele Frequency of a Common Germline PDCD1 Variant Associated with Leukocytosis and Thrombocytopenia in Acute Myeloid Leukemia Treated with HDCT/ASCT
AU  - Katja Seipel
AU  - Ranja Leuenberger
AU  - Henning Nilius
AU  - Michele Hoffmann
AU  - Martina Bertschinger
AU  - Marie-Noelle Kronig
AU  - Ulrike Bacher
AU  - Thomas Pabst
PY  - 2026
DA  - 2026/11/03
JO  - Cancers
DO  - 10.3390/cancers18213537
UR  - https://www.mdpi.com/2072-6694/18/21/3537
AB  - Background: Germline variants of immune-regulatory genes may affect immune checkpoint functions, disease susceptibility, disease features, and treatment response in acute myeloid leukemia. Methods: We analyzed the prevalence and potential impact of the PDCD1 gene variant rs6710479 in AML patients eligible for high-dose chemotherapy and autologous hematopoietic stem cell transplantation as consolidation treatment in first complete remission. Results: The PDCD1 rs6710479 was prevalent at elevated minor allele frequencies (MAF 0.52) in AML patients, compared to the allele frequencies reported for the European population (MAF 0.43). Baseline blood count profiles differed across PDCD1 genotypes, suggesting a link between PDCD1 rs6710479 and disease-associated levels of thrombocytopenia and leukocytosis. Conclusion: The germline PDCD1 rs6710479 variant may associate with AML disease risk and specific hematological disease features.
SN  - 2072-6694
ER  -