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Snippets in haematology
  1. Scott McCloskey (,
  2. Mary Frances McMullin (

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This section features synopses of pertinent practical publications that appear in pathology journals in the respective sub-specialties. The summaries are mere guidelines and personal opinions of the two authors. The articles selected are diverse but occasionally reflect the authors’ bias and are from the more widely read pathology journals. It is not intended to be an assiduous search of every publication in every pathology journal, but more of a general indication of some of the monthly highlights through the eyes of the authors.

Hopefully, these snippets will provide the reader with enough to glean some facts and tips, as well as encourage them to read the entire article if necessary.

New England Journal of Medicine

27 November 2008

Lenz G, Wright G, Dave SS, et al. Stromal gene signatures in large-B-cell lymphomas. N Engl J Med 2008;359:2313–23.

Gene expression signatures have been explored in many diseases to divide into diagnostic groups and predict prognosis. This group have identified three gene-expression signatures in pre-treatment biopsies of diffuse large-B-cell lymphoma. The three signatures termed “germinal-centre B-cell”, “stromal-1” and “stromal-2” from the training set predicted survival in the validation group. A “stromal-1” signature involved genes involved in extracellular matrix deposition and histolytic infiltration while a “stromal-2” signature reflected tumour blood-vessel density.

29 January 2009

Mulligan CG, Su X, Zhang J, et al. Deletion of IKZF1 and prognosis in acute lymphoblastic leukaemia. N Engl J Med 2009;360:470–80.

Genome wide analysis has identified a high frequency of DNA copy number abnormalities in acute lymphoblastic leukaemia (ALL). This genetic study of a cohort of over 200 children with high-risk progenitor B-cell ALL identified over 50 recurring copy-number abnormalities. PAX5 was involved in 31.7% and IKZF1 in 28.6%. A predictor of poor outcome in the independent validation cohort involved genetic alteration of IKZF1 a gene that encodes the lymphoid transcription factor IKAROS. …

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  • Provenance and peer review Commissioned; not externally peer reviewed.