Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia

Filippo Pinto e VairoCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; ;Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA;

Alejandro FerrerCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; ;Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA;

Elizabeth Cathcart-RakeDepartment of Internal Medicine, Division of Hematology, Mayo Clinic, Rochester, MN, USA;

Rebecca L. KingDepartment of Internal Medicine, Division of Hematology, Mayo Clinic, Rochester, MN, USA;

Matthew T. HowardDepartment of Internal Medicine, Division of Hematology, Mayo Clinic, Rochester, MN, USA;

David S. ViswanathaDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA;

Eric W. KleeCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; ;Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA; ;Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; ;Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA

Abhishek A. MangaonkarDepartment of Internal Medicine, Division of Hematology, Mayo Clinic, Rochester, MN, USA; Correspondence[email protected]

Mrinal M. PatnaikDepartment of Internal Medicine, Division of Hematology, Mayo Clinic, Rochester, MN, USA; Correspondence[email protected]

http://orcid.org/0000-0001-6998-662X

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Potential conflict of interest

Disclosure forms provided by the authors are available with the full text of this article online at http://dx.doi.org/10.1080/10428194.2018.1522443.

Acknowledgements

We thank the patient and her family. Current publication is supported by the ‘The Gerstner Family Career Development Award’, the Mayo Clinic Center for Individualized Medicine (Rochester, MN), and by CTSA Grant Number KL2 TR000136 from the National Center for Advancing Translational Science (NCATS). Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the NIH.

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Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia

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Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia

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