In trans early mosaic mutational escape and novel phenotypic features of germline SAMD9 mutation

Br J Haematol. 2020 Feb;188(4):e53-e57. doi: 10.1111/bjh.16322. Epub 2020 Jan 3.

Authors

Catherine Hockings^{1

2}, Satyen Gohil^{1

2}, Robin Dowse³, Yvette Hoade¹, Marc R Mansour^{1

2}, Rosemary E Gale¹, David C Linch^{1

2}, Anupama Rao³, Elspeth M Payne^{1

2}

Affiliations

¹ Research Department of Haematology, Cancer Institute, University College London, London, UK.
² Department of Haematology, University College London Hospitals NHS Foundation Trust, London, UK.
³ Department of Haematology, Great Ormond Street Hospital for Sick Children, London, UK.

PMID: 31900929
DOI: 10.1111/bjh.16322

No abstract available

Keywords: AML; MDS; SAMD9; cancer genetics; mirage.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Child
Female
Germ-Line Mutation*
Humans
Intracellular Signaling Peptides and Proteins / genetics*
Leukemia, Myeloid, Acute / genetics*
Male
Mosaicism*
Myelodysplastic Syndromes / genetics*

Substances

Intracellular Signaling Peptides and Proteins
SAMD9 protein, human

Grants and funding