Altaraihi Mays, Pedersen Jens, Rossing Maria, Gedes Anne-Marie, Wadt Karin
Ugeskr Laeger. 2018 Jun 18;180(25).
Germ line DICER1 mutations predispose to a syndrome associated with increased risk of e.g. multinodular goitre (MNG), pleuropulmonary blastoma and Sertoli-Leydig cell tumour (SLCT). This is a case report about a family with a nonsense DICER1 mutation, c.988C>T, affecting six family members. The proband had once undergone a unilateral oophorectomy and a thyroidectomy due to SLCT and MNG, respectively. The proband has two children with the mutation but with no manifestations. Given this circumstance, we discuss the prospects of an implementation of screening programmes for children with predisposed cancerous syndromes.
种系DICER1突变易导致一种综合征，该综合征会增加例如多结节性甲状腺肿（MNG）、胸膜肺母细胞瘤和支持-莱迪希细胞瘤（SLCT）的发病风险。这是一篇关于一个家族的病例报告，该家族存在一种无义DICER1突变，即c.988C>T，影响了六名家族成员。先证者曾因SLCT和MNG分别接受过单侧卵巢切除术和甲状腺切除术。先证者有两个携带该突变但无临床表现的孩子。鉴于这种情况，我们讨论了对患有易患癌综合征儿童实施筛查项目的前景。
