正交同源盒2(OTX2)是髓母细胞瘤的已知致癌驱动因素。包括OTX2在内的14q22.3的种系重复是在合并垂体激素缺乏的患者中报道的罕见情况,眼-耳-椎骨光谱,和面部微缩肌.先前已发表的一例患者携带14q22.3重复,其中包括OTX2伴半面微体,也发展为髓母细胞瘤。这里,我们介绍一例6岁女孩,有发育迟缓病史,被诊断为髓母细胞瘤.遗传评估显示,她继承了14q22.3的种系重复,其中包括OTX2。这个基因改变是从她母亲那里传下来的,他也有延迟发展的历史。其他基因检测的结果,包括外显子组测序,脆性X综合征,和mtDNA测试,为阴性/正常。这是髓母细胞瘤患者中包含OTX2的14q22.3重复的第二篇报告。需要进一步研究以建立明确的关联。
Orthodenticle homeobox 2 (
OTX2) is a known oncogenic driver of medulloblastoma. Germline duplication of 14q22.3 including
OTX2 is a rare condition reported in patients with combined pituitary hormone deficiency, oculo-auriculo-vertebral spectrum, and hemifacial microsomia. There has been one previously published
case of a patient carrying a 14q22.3 duplication that included
OTX2 with hemifacial microsomia who also developed medulloblastoma. Here, we present a
case of a 6-year-old girl with a history of delayed development who was diagnosed with medulloblastoma. Genetic evaluations revealed that she inherited a germline duplication of 14q22.3, which included OTX2. This genetic alteration was passed down from her mother, who also had a history of delayed development. Results from other genetic testing, including exome sequencing, fragile X syndrome, and mtDNA testing, were negative/normal. This is the second report of a 14q22.3 duplication that included OTX2 in a patient with medulloblastoma. Further studies are necessary to establish a clear association.