Please use this identifier to cite or link to this item: http://hdl.handle.net/11434/1874
Title: A novel germline splice site DDX41 mutation causing MDS/AML.
Authors: Piggin, Anna
Fox, Lucy
Prince, Miles
Keywords: Myelodysplastic Syndrome
MDS
Acute Myeloid Leukaemia
AML
DDX41
Germline
Splice
Variant
Molecular Oncology and Cancer Immunology, Epworth Healthcare
Cancer Services Clinical Institute, Epworth HealthCare, Victoria, Australia
Issue Date: Oct-2020
Conference Name: Epworth HealthCare Research Month 2020
Conference Location: Epworth Research Institute, Victoria, Australia
Abstract: We describe a novel germline mutation in DDX41 causing MDS/AML, and demonstrating recently-appreciated typical features of DDX41 disease including late-onset, preceding cytopenias, normal cytogenetics, and a somatic second-hit DDX41 mutation. Due to longer latency, the familial nature of DDX41-associated MDS/AML is likely under-recognised as it presents at similar age to de novo cases. Nonetheless, recognition is critical for optimising management, including; • genetic counselling/testing of at-risk family members. • screening of any potential related stem cell donors prior to transplant in order to avoid donor-derived leukaemia, an increasingly appreciated risk in germline haematological disease.
URI: http://hdl.handle.net/11434/1874
Type: Conference Poster
Affiliated Organisations: Peter MacCallum Cancer Centre, Melbourne
Type of Clinical Study or Trial: Case Reports
Appears in Collections:Research Week

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