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Germline CEBPA Mutation as a Rare Cause of Chronic Neutropenia

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Fig. 1

Data Availability

Data are included in this published article and its additional file.

Abbreviations

ANC:

Absolute neutrophil count

CBC:

Complete blood count

CEBPA:

CCAAT/enhancer‐binding protein‐α

G-CSF:

Granulocyte-colony stimulating factor

AML:

Acute myeloid leukemia

References

  1. Kyono W, Coates TD (2002) A practical approach to neutrophil disorders. Pediatr Clin North Am 49(5):929–71. https://doi.org/10.1016/s0031-3955(02)00030-5

    Article  PubMed  Google Scholar 

  2. Newburger PE, Dale DC (2013) Evaluation and management of patients with isolated neutropenia. Semin Hematol 50(3):198–206. https://doi.org/10.1053/j.seminhematol.2013.06.010

    Article  PubMed  PubMed Central  Google Scholar 

  3. Palmblad J, Dufour C, Papadaki HA (2014) How we diagnose neutropenia in the adult and elderly patient. Haematologica 99(7):1130–1133. https://doi.org/10.3324/haematol.2014.110288

    Article  PubMed  PubMed Central  Google Scholar 

  4. Klein C (2009) Congenital neutropenia. Hematol Am Soc Hematol Educ Program. https://doi.org/10.1182/asheducation-2009.1.344

    Article  Google Scholar 

  5. Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB (2011) Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet J Rare Dis 19(6):26. https://doi.org/10.1186/1750-1172-6-26

    Article  Google Scholar 

  6. Leroy H, Roumier C, Huyghe P, Biggio V, Fenaux P, Preudhomme C (2005) CEBPA point mutations in hematological malignancies. Leukemia 19(3):329–334. https://doi.org/10.1038/sj.leu.2403614

    Article  CAS  PubMed  Google Scholar 

  7. AACR Project GENIE Consortium (2017) AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discov 7(8):818–831. https://doi.org/10.1158/2159-8290.CD-17-0151

    Article  Google Scholar 

  8. Gao J, Gong S, Chen YH (2019) Myeloid neoplasm with germline predisposition: a 2016 update for pathologists. Arch Pathol Lab Med 143(1):13–22. https://doi.org/10.5858/arpa.2017-0194-RA.Erratum.In:ArchPatholLabMed.2019Mar;143(3):277

    Article  PubMed  Google Scholar 

  9. Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J (2004) Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med 351(23):2403–2407. https://doi.org/10.1056/NEJMoa041331

    Article  CAS  PubMed  Google Scholar 

  10. Wafa A, Ali B, Moassass F, Kheder M, Aljapawe A, Al-Halabi B, Mrasek K, Liehr T, Al-Achkar W (2022) Acute myeloid leukemia due to germline CEBPA mutation in a Syrian family. Mol Genet Genomic Med 10(2):e1854. https://doi.org/10.1002/mgg3.1854

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW (2016) The 2016 revision to the world health organization classification of myeloid neoplasms and acute leukemia. Blood 127(20):2391–2405. https://doi.org/10.1182/blood-2016-03-643544

    Article  CAS  PubMed  Google Scholar 

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Funding

No funding was received.

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Author notes

  1. Abdullah Emre Askin and Sebnem Bektas have contributed equally.

Authors and Affiliations

  1. Department of Hematology, Faculty of Medicine, Istanbul Medipol University, Istanbul, Turkey

    Abdullah Emre Askin, Sebnem Bektas, Yasa Gul Mutlu, Berrin Balik Aydin & Omur Gokmen Sevindik

  2. Department of Hematology, University of Health Sciences, Istanbul Training and Research Hospital, Org.Nafiz GURMAN Cad., 34098, Istanbul, Turkey

    Istemi Serin

Authors
  1. Abdullah Emre Askin
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  2. Sebnem Bektas
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  3. Istemi Serin
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  4. Yasa Gul Mutlu
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  5. Berrin Balik Aydin
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  6. Omur Gokmen Sevindik
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Contributions

All authors contributed to the editing of the manuscript. IS wrote the manuscript and prepared the accompanying pictures.

Corresponding author

Correspondence to Istemi Serin.

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The authors declare that they have no competing interests.

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Informed consent was obtained from our patient to publish the presentation.

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Written informed consent was obtained from the patients for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

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Askin, A.E., Bektas, S., Serin, I. et al. Germline CEBPA Mutation as a Rare Cause of Chronic Neutropenia. Indian J Hematol Blood Transfus 40, 527–530 (2024). https://doi.org/10.1007/s12288-023-01725-3

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