A pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis

作者：Li, Sihui; Cai, Siyu; Wang, Xisi; Zhang, Dawei; Fu, Libing; Zeng, Qi; Peng, Xiaoxia; Ma, Xiaoli^*

来源：Pediatric Blood and Cancer, 2017, 64(12): e26680.

DOI：10.1002/pbc.26680

• acute transient hepatitis
• DICER1
• monozygotic twins
• pleuropulmonary blastoma

Pleuropulmonary blastoma (PPB) is the most common primary malignant neoplasm of the lung in children that is associated with a germline mutation in DICER1. In this report, we share an interesting case of a pair of monozygotic twins: one of them developed PPB when she was 4-year old, while the other developed acute transient hepatitis when she was 5-year old. Next-Gen sequencing for DICER1 mutations of their family revealed that both twins and their mother had c.C3675A mutation. The mother also had a history of multinodular goiter. Identification of DICER1 mutation carriers and close surveillance of individuals at risk for DICER1 syndrome may allow early detection and hence better outcome.

• 出版日期2017-12
• 单位首都医科大学