Int J Gynecol Pathol. 2023 Jul 1;42(4):347-352. doi: 10.1097/PGP.0000000000000927. Epub 2022 Oct 20.
We describe a very unusual cervical tumor in a 12-yr-old patient with a clinical history indicative of DICER1 syndrome. Morphologic, immunohistochemical, and molecular genetic analysis together helped to diagnose this lesion as a cervical pleuropulmonary blastoma-like tumor, associated with TP53 and DICER1 mutations. The tumor displayed usual histologic features including mixtures of embryonal rhabdomyosarcoma, sarcomatous cartilage, compact blastema, primitive spindle cells and anaplasia, akin to type III pleuropulmonary blastoma, and trabecular and retiform patterns. In addition to expanding the phenotypic spectrum of DICER1 -associated conditions, we draw attention to genotype-phenotype correlations in DICER1 -associated tumors, particularly as they relate to the discovery of a heritable tumor predisposition syndrome.
我们描述了一例非常不寻常的 12 岁颈部长瘤病例，该患者具有 DICER1 综合征的临床病史。形态学、免疫组织化学和分子遗传学分析共同帮助诊断该病变为宫颈胸膜肺母细胞瘤样肿瘤，与 TP53 和 DICER1 突变相关。该肿瘤表现出常见的组织学特征，包括胚胎横纹肌肉瘤、肉瘤样软骨、致密性成骨细胞、原始梭形细胞和间变的混合物，类似于 III 型胸膜肺母细胞瘤，以及小梁状和网状模式。除了扩展 DICER1 相关疾病的表型谱外，我们还注意到 DICER1 相关肿瘤的基因型-表型相关性，特别是与遗传性肿瘤易感性综合征的发现有关。
