Ontology highlight
ABSTRACT:
SUBMITTER: Nakano Y
PROVIDER: S-EPMC6881536 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 20190711 12
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 anal ...[more]