作者
Kasiani C Myers, Elissa Furutani, Edie Weller, Bradford Siegele, Ashley Galvin, Valerie Arsenault, Blanche P Alter, Farid Boulad, Carlos Bueso-Ramos, Lauri Burroughs, Paul Castillo, James Connelly, Stella M Davies, Courtney D DiNardo, Iftikhar Hanif, Richard H Ho, Nicole Karras, Michelle Manalang, Lisa J McReynolds, Taizo A Nakano, Grzegorz Nalepa, Maxim Norkin, Matthew J Oberley, Etan Orgel, Yves D Pastore, Joseph Rosenthal, Kelly Walkovich, Jordan Larson, Maggie Malsch, M Tarek Elghetany, Mark D Fleming, Akiko Shimamura
发表日期
2020/3/1
期刊
The Lancet Haematology
卷号
7
期号
3
页码范围
e238-e246
出版商
Elsevier
简介
Background
Data to inform surveillance and treatment for leukaemia predisposition syndromes are scarce and recommendations are largely based on expert opinion. This study aimed to investigate the clinical features and outcomes of patients with myelodysplastic syndrome or acute myeloid leukaemia and Shwachman-Diamond syndrome, an inherited bone marrow failure disorder with high risk of developing myeloid malignancies.
Methods
We did a multicentre, retrospective, cohort study in collaboration with the North American Shwachman-Diamond Syndrome Registry. We reviewed patient medical records from 17 centres in the USA and Canada. Patients with a genetic (biallelic mutations in the SBDS gene) or clinical diagnosis (cytopenias and pancreatic dysfunction) of Shwachman-Diamond syndrome who developed myelodysplastic syndrome or acute myeloid leukaemia were eligible without additional …
学术搜索中的文章
KC Myers, E Furutani, E Weller, B Siegele, A Galvin… - The Lancet Haematology, 2020