Appay Romain, Tauziède-Espariat Arnault, Silva Karen, Fritih Radia, Scavarda Didier, Delteil Clémence, Varlet Pascale, Figarella-Branger Dominique
Service d'anatomie pathologique et de neuropathologie, hôpital de la Timone, Assistance Publique des Hôpitaux de Marseille, 264, rue Saint-Pierre, 13005 Marseille cedex 5, France.
Service de neuropathologie, GHU Paris Psychiatrie et Neurosciences, centre hospitalier Sainte-Anne, 1, rue Cabanis, 75014 Paris, France.
Ann Pathol. 2021 Feb;41(1):129-133. doi: 10.1016/j.annpat.2020.07.003. Epub 2020 Jul 27.
Diffuse gliomas with MYB or MYBL1 alterations are rare tumours mostly affecting children or young adults with long-term epilepsy. This category of glioma includes two morphological subtypes. The angiocentric subtype is characterized by an angiocentric pattern of growth and a frequent MYB:QKI fusion. The isomorphic subtype corresponds to a highly differentiated astrocytic glioma with low cellularity, low proliferation and no specific microscopic features. The diagnosis is based on the imaging, demonstrating a supratentorial tumor, associated with the confirmation of a MYB or MYBL1 rearrangement. Here, we report the case of a 7-year-old child who presented a right frontal brain lesion corresponding to an isomorphic diffuse glioma with MYBL1 alteration.
具有MYB或MYBL1改变的弥漫性胶质瘤是罕见肿瘤，主要影响患有长期癫痫的儿童或年轻人。这类胶质瘤包括两种形态学亚型。血管中心型亚型的特征是血管中心性生长模式和频繁的MYB:QKI融合。同形亚型对应于一种高度分化的星形细胞胶质瘤，细胞密度低、增殖率低且无特异性微观特征。诊断基于影像学检查，显示幕上肿瘤，并伴有MYB或MYBL1重排的确认。在此，我们报告一例7岁儿童病例，其右额叶脑病变对应于具有MYBL1改变的同形弥漫性胶质瘤。
