Application of Genomics to Clinical Practice in Haematological Malignancy

Abstract

Purpose of Review The usual abundance of fresh cells and high-quality DNA derived from bone marrow aspirate and peripheral blood mean haematological malignancies are at the forefront of the application of genomics to malignancy. This review evaluates where genomics is routinely used in clinical care and where opportunities for further application exist. Recent Findings The 2016 revision of the WHO classification of tumours of haematopoietic and lymphoid tissues increased the number of disease entities defined by, or whose diagnosis was strongly supported by, a specific genetic change. Increasingly combinations of mutations rather than individual lesions are being used to genomically classify heterogeneous disorders to inform prognosis and direct treatment. Furthermore, the role of different genetic aberrations as markers of measurable residual disease is being evaluated in clinical trials to allow intensification/de-intensification of treatment as appropriate and early detection of relapse. Summary Implementation of broader sequencing technologies such as whole exome/genome sequencing coupled with continuing developments in genomic technology to improve turnaround times are likely to further reinforce the centrality of genomics in the management of haematological malignancies.

Shared genetic features between lymphoma pathogenesis and oestrogen levels

“…Lymphomas can be broadly categorised into Hodgkin's lymphoma (HL) and Non-Hodgkin's lymphoma (NHL). NHL can be further sub-categorised into B-cell subtypes, such as diffuse large B-cell lymphoma (DLBCL) and follicular lymphoma (FL), or T-cell subtypes [3,4]. Scope remains to further explore the genetic profile of lymphoma and its subtypes, particularly in relation to sex differences, to advance diagnosis and aid treatment planning.…”