Exome sequencing identifies recurrent BCOR gene alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma.

Exome sequencing identifies recurrent BCOR gene alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma. Haematologica. 2017 Jul 27;: Authors: Jallades L, Baseggio L, Sujobert P, Huet S, Chabane K, Callet-Bauchu E, Verney A, Hayette S, Desvignes JP, Salgado D, Levy N, Béroud C, Felman P, Berger F, Magaud JP, Genestier L, Salles G, Traverse-Glehen A Abstract Splenic diffuse red pulp lymphoma is an indolent small B-cell lymphoma recognised as a provisional entity in the WHO 2008 classification. Its precise relationship with other related splenic B-cell lymphomas with frequent leukaemic involvement or other lymphoproliferative disorders remains undetermined. We performed whole-exome sequencing to explore the genetic landscape of 10 splenic diffuse red pulp lymphoma cases from paired tumour and normal samples. A selection of 109 somatic mutations was then evaluated in a cohort including 42 splenic diffuse red pulp lymphoma samples and compared to those identified in 46 splenic marginal zone lymphoma and 8 hairy-cell leukaemia samples. Recurrent mutations or losses in BCOR (gene encoding the BCL6 corepressor)-frameshift (n=3), nonsense (n=2), splicing site (n=1), and copy number loss (n=4)- were identified in 10/42 splenic diffuse red pulp lymphoma (24%), whereas only one frameshift mutation was identified in 46 splenic marginal zone lymphoma cases (2%). Inversely, KLF2, TNFAIP3 ...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research