Published in:
01-09-2015 | Correspondence
TERT promoter mutations in primary central nervous system lymphoma are associated with spatial distribution in the splenium
Authors:
Aurélie Bruno, Agusti Alentorn, Mailys Daniau, Marianne Labussière, Amithys Rahimian, Emeline Tabouret, Marc Polivka, Anne Jouvet, Clovis Adam, Dominique Figarella-Branger, Fabrice Chrétien, Sandrine Eimer, Caroline Houillier, Carole Soussain, Karima Mokhtari, Khê Hoang-Xuan
Published in:
Acta Neuropathologica
|
Issue 3/2015
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Excerpt
Primary central nervous system lymphoma (PCNSL) is a rare and aggressive extranodal non-Hodgkin lymphoma. Its management remains a matter of debate and little is known about its tumorigenesis [
4]. Novel somatic mutations in the promoter of
TERT (telomerase reverse transcriptase) gene have been recently identified in a wide range of cancers including brain malignancies. The two hotspot mutations, −124C>T (C228T) and −146C>T (C250T), generate binding sites for ETS/TCF transcription factors leading to an increased transcriptional activity. Interestingly, an adverse prognostic impact of these mutations has been described in several tumor types; moreover, the
TERT polymorphism rs2853669 may influence the effect of
TERT mutations on outcome [
3]. …
