Nature Communications (Feb 2021)
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome
- Alyssa L. Kennedy,
- Kasiani C. Myers,
- James Bowman,
- Christopher J. Gibson,
- Nicholas D. Camarda,
- Elissa Furutani,
- Gwen M. Muscato,
- Robert H. Klein,
- Kaitlyn Ballotti,
- Shanshan Liu,
- Chad E. Harris,
- Ashley Galvin,
- Maggie Malsch,
- David Dale,
- John M. Gansner,
- Taizo A. Nakano,
- Alison Bertuch,
- Adrianna Vlachos,
- Jeffrey M. Lipton,
- Paul Castillo,
- James Connelly,
- Jane Churpek,
- John R. Edwards,
- Nobuko Hijiya,
- Richard H. Ho,
- Inga Hofmann,
- James N. Huang,
- Siobán Keel,
- Adam Lamble,
- Bonnie W. Lau,
- Maxim Norkin,
- Elliot Stieglitz,
- Wendy Stock,
- Kelly Walkovich,
- Steffen Boettcher,
- Christian Brendel,
- Mark D. Fleming,
- Stella M. Davies,
- Edie A. Weller,
- Christopher Bahl,
- Scott L. Carter,
- Akiko Shimamura,
- R. Coleman Lindsley
Affiliations
- Alyssa L. Kennedy
- Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
- Kasiani C. Myers
- Department of Pediatrics, University of Cincinnati College of Medicine
- James Bowman
- Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
- Christopher J. Gibson
- Department of Medical Oncology, Division of Hematological Malignancies Dana-Farber Cancer Institute
- Nicholas D. Camarda
- Dana-Farber Cancer Institute
- Elissa Furutani
- Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
- Gwen M. Muscato
- Boston Children’s Hospital
- Robert H. Klein
- Dana-Farber Cancer Institute
- Kaitlyn Ballotti
- Boston Children’s Hospital
- Shanshan Liu
- Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Boston Children’s Hospital
- Chad E. Harris
- Boston Children’s Hospital
- Ashley Galvin
- Boston Children’s Hospital
- Maggie Malsch
- Boston Children’s Hospital
- David Dale
- Department of Internal Medicine, University of Washington
- John M. Gansner
- Division of Hematology, Department of Medicine, Brigham and Women’s Hospital
- Taizo A. Nakano
- Center for Cancer and Blood Disorders, Children’s Hospital Colorado, University of Colorado School of Medicine
- Alison Bertuch
- Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine
- Adrianna Vlachos
- Division of Hematology/Oncology and Cellular Therapy, Cohen Children’s Medical Center of New York
- Jeffrey M. Lipton
- Division of Hematology/Oncology and Cellular Therapy, Cohen Children’s Medical Center of New York
- Paul Castillo
- Shands Children’s Hospital, Department of Pediatrics, Division of Pediatric Hematology Oncology, University of Florida
- James Connelly
- Department of Pediatrics, Division of Pediatric Hematology Oncology, Vanderbilt University Medical Center
- Jane Churpek
- Department of Medicine, Section of Hematology, Oncology, and Palliative Care, The University of Wisconsin-Madison
- John R. Edwards
- Indiana Blood and Marrow Transplantation
- Nobuko Hijiya
- Department of Pediatrics, Columbia University Medical Center
- Richard H. Ho
- Department of Pediatrics, Division of Pediatric Hematology Oncology, Vanderbilt University Medical Center
- Inga Hofmann
- Department of Pediatrics, Division of Pediatric Hematology/Oncology and BMT, University of Wisconsin
- James N. Huang
- Department of Pediatrics, UCSF Benioff Children’s Hospital
- Siobán Keel
- Division of Hematology, Department of Medicine, University of Washington
- Adam Lamble
- Division of Hematology-Oncology, Seattle Children’s Hospital
- Bonnie W. Lau
- Dartmouth-Hitchcock Medical Center, Pediatric Hematology Oncology, Geisel School of Medicine
- Maxim Norkin
- Division of Cancer Medicine, Baptist MD Anderson Cancer Center
- Elliot Stieglitz
- Department of Pediatrics, UCSF Benioff Children’s Hospital
- Wendy Stock
- Department of Medicine, University of Chicago
- Kelly Walkovich
- Division of Pediatric Hematology- Oncology, Department of Pediatrics, University of Michigan Medical School
- Steffen Boettcher
- Department of Medical Oncology and Hematology, University Hospital Zurich and University of Zurich
- Christian Brendel
- Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
- Mark D. Fleming
- Department of Pathology, Boston Children’s Hospital
- Stella M. Davies
- Department of Pediatrics, University of Cincinnati College of Medicine
- Edie A. Weller
- Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
- Christopher Bahl
- Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
- Scott L. Carter
- Broad Institute
- Akiko Shimamura
- Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
- R. Coleman Lindsley
- Department of Medical Oncology, Division of Hematological Malignancies Dana-Farber Cancer Institute
- DOI
- https://doi.org/10.1038/s41467-021-21588-4
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 15
Abstract
Understanding the molecular basis of leukaemia predisposition is essential for intervention. The authors here investigate germline genetic leukaemia predisposition by studying Shwachman-Diamond syndrome and report compensatory inactivating mutations in EIF6 and transforming biallelic TP53 alterations.
