Abstract
With the inclusion for the first time of ‘Myeloid Neoplasms with Germline Predisposition’ in the most recent iteration of the WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, consideration of whether an underlying inherited factor may have contributed to malignancy development has become an essential part of the diagnostic work up. The disease groups which fall under this heading are broad; from the traditional inherited bone marrow failures such as Fanconi anaemia and dyskeratosis congenita, to the more recently described GATA2 deficiency syndrome and also some ‘non-syndromal’ conditions such as the predisposition to myeloid malignancy conferred by germline mutations in DDX41.
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