A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

作者：Neven Benedicte; Mamessier Emilie; Bruneau Julie; Kaltenbach Sophie; Kotlarz Daniel; Suarez Felipe; Masliah Planchon Julien; Billot Katy; Canioni Danielle; Frange Pierre; Radford Weiss Isabelle; Asnafi Vahid; Murugan Dhaarini; Bole Christine; Nitschke Patrick; Goulet Olivier; Casanova Jean Laurent; Blanche Stephane; Picard Capucine; Hermine Olivier; Rieux Laucat Frederic; Brousse Nicole; Davi Frederic; Baud Veronique; Klein Christoph; Nadel Bertrand; Ruemmele Frank

来源：Blood, 2013, 122(23): 3713-3722.

DOI：10.1182/blood-2013-06-508267

Monogenic interleukin-10 (IL-10) and IL-10 receptor (IL-10R) deficiencies cause very early onset severe inflammatory bowel disease. Here, we report that 5 patients with an IL-10R1 (n = 1) or IL-10R2 (n = 4) deficiency developed B-cell non-Hodgkin lymphoma between the ages of 5 and 6 years (which was recurrent in 1 patient). These lymphomas had some of the characteristics of diffuse large B-cell lymphomas and contained monoclonal, Epstein-Barr virus-negative germinal center B cells. The tumors displayed a remarkably homogeneous signature, with original activation of the nuclear factor kappa B pathway and a decrease in intratumor T-cell infiltration. Hence, IL-10R deficiency is associated with a high risk of developing B-cell lymphoma. Our results revealed an unexpected role of the IL-10R pathway in lymphomagenesis.

• 出版日期2013-11-28