A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetrance

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Acknowledgements

The authors acknowledge and thank the family discussed in this report.

Authorship contributions

HM, PHC, ABP, AJS, and NAP conceived this case report and drafted the initial manuscript. AEB, LG, AK, JR, CVT, and RK performed critical edits and revisions of the manuscript. P-HC and HM prepared Figures 1 and 2. All authors approved the final and submitted version of this manuscript.

Disclosure statement

NAP consulted for and received honoraria from Alexion, Pfizer, Agios Pharmaceuticals, Blueprint Medicines, Incyte, Novartis, PharmaEssentia; received research funding (all to the institution) from Boehringer Ingelheim, Astellas Pharma, Daiichi Sankyo, Sunesis Pharmaceuticals, Jazz Pharmaceuticals, Pfizer, Astex Pharmaceuticals, CTI biopharma, Celgene, Genentech, AI Therapeutics, Samus Therapeutics, Arog Pharmaceuticals, Kartos Therapeutics and received grant funding from Celgene. Other authors (HM, PHC, ABP, AJS, AEB, LG, AK, JR, CVT, and RK) report no relevant financial conflicts of interest.

Additional information

Funding

This work was primarily supported by funding from the Frederick A. DeLuca Foundation.