mutyh mutation
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2019 ◽  
Vol 42 (7) ◽  
pp. e647-e654
Author(s):  
Vincent Lavergne ◽  
Amit Sabnis ◽  
Asmin Tupule ◽  
Philip R. Davidson ◽  
Cassie Kline ◽  
...  

2019 ◽  
Vol 12 (1) ◽  
pp. bcr-2018-226455
Author(s):  
Yasmin Aghajan ◽  
Denise M Malicki ◽  
Michael L Levy ◽  
John Ross Crawford

We present the case of a 13-year-old boy with a very unusual periventricular atypical central neurocytoma with unique molecular features treated with subtotal surgical resection and photon intensity-modulated radiotherapy. Histological features were most consistent with atypical central neurocytoma. However, next-generation sequencing analysis revealed a novel EWSR1-ATF1 gene fusion (EWSR1-ATF1) as well as a MUTYH mutation. The EWSR1-ATF1 raised the possibility of Ewing sarcoma or angiomatoid fibrous histiocytoma, however, FLI-1 immunohistochemistry was negative. MUTYH mutations have been reported in diffuse midline paediatric glioma. The role of EWSR1-ATF1 and MUTYH mutations in central nervous system tumours is not well established. We present the first case of EWSR1-ATF1 and MUTYH mutation in a rare paediatric atypical central neurocytoma. Further studies are indicated to elucidate the consequences of these gene alterations in the context of paediatric central nervous system tumours as well as to investigate the potential role for targeted therapies.


2016 ◽  
pp. bcr2016217764 ◽  
Author(s):  
Yasmin Aghajan ◽  
Michael L Levy ◽  
Robert O Newbury ◽  
John Ross Crawford

2016 ◽  
Vol 16 (1) ◽  
pp. 83-90 ◽  
Author(s):  
Afaf Elsaid ◽  
Rami Elshazli ◽  
Fatma El-Tarapely ◽  
Hossam Darwish ◽  
Camelia Abdel-Malak

2016 ◽  
Vol 150 (4) ◽  
pp. S361
Author(s):  
Nicolas Benech ◽  
Sonia Malki ◽  
Thomas Seytier ◽  
Stéphane Pinson ◽  
Sophie Giraud ◽  
...  

2015 ◽  
Vol 14 (3) ◽  
pp. 427-436 ◽  
Author(s):  
Guy Rosner ◽  
Dani Bercovich ◽  
Yael Etzion Daniel ◽  
Hana Strul ◽  
Naomi Fliss-Isakov ◽  
...  

Cancer ◽  
2011 ◽  
Vol 118 (8) ◽  
pp. 1989-1993 ◽  
Author(s):  
Gad Rennert ◽  
Flavio Lejbkowicz ◽  
Ilana Cohen ◽  
Mila Pinchev ◽  
Hedy S. Rennert ◽  
...  

2011 ◽  
Vol 140 (5) ◽  
pp. S-352
Author(s):  
Elisa Pin ◽  
Michele Quaia ◽  
Rossella Tricarico ◽  
Alessandra Viel ◽  
Maurizio Genuardi ◽  
...  

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