Premium
A pair of DICER1‐positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis
Author(s) -
Li Sihui,
Cai Siyu,
Wang Xisi,
Zhang Dawei,
Fu Libing,
Zeng Qi,
Peng Xiaoxia,
Ma Xiaoli
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26680
Subject(s) - medicine , germline mutation , mutation , germline , pediatrics , genetics , gene , biology
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.