Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan.
Department of Hematology and Oncology, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.
Mod Pathol. 2019 Dec;32(12):1744-1750. doi: 10.1038/s41379-019-0319-4. Epub 2019 Jul 11.
We report two malignant sacrococcygeal tumors in infants that were associated with pathogenic DICER1 variation. These tumors were composed of primitive neuroepithelium, embryonal rhabdomyosarcoma, and cartilage and initially diagnosed as immature teratomas. One child developed intracranial metastasis and died. The second child underwent surgery and chemotherapy and achieved complete remission. This child subsequently developed five additional DICER1-associated neoplasms by age nine. Genetic analysis revealed that both tumors harbored biallelic pathogenic DICER1 variation. We believe these cases represent another novel subtype of DICER1-associated tumor. This new entity, which we propose to call DICER1-associated presacral malignant teratoid neoplasm, may be difficult initially to distinguish from immature teratoma, but recognizing it as an entity can prompt appropriate classification as an aggressive malignancy and facilitate appropriate genetic counseling, DICER1 germline variant testing, screening, and education.
我们报告了两例与致病性 DICER1 变异相关的婴儿骶尾部恶性肿瘤。这些肿瘤由原始神经上皮、胚胎横纹肌肉瘤和软骨组成，最初被诊断为未成熟畸胎瘤。其中一名患儿发生颅内转移并死亡。另一名患儿接受了手术和化疗，达到完全缓解。这名患儿随后在 9 岁时又出现了 5 种其他 DICER1 相关肿瘤。基因分析显示两个肿瘤均存在双等位基因致病性 DICER1 变异。我们认为这些病例代表了 DICER1 相关肿瘤的另一种新亚型。这种新实体，我们建议将其称为 DICER1 相关荐骨恶性畸胎瘤，最初可能难以与未成熟畸胎瘤区分，但将其识别为一种实体可以促使其被适当归类为侵袭性恶性肿瘤，并有助于进行适当的遗传咨询、DICER1 种系变异检测、筛查和教育。
