Biallelic DICER1 Mutations in Sporadic Pleuropulmonary Blastoma

被引：67

作者：

Seki, Masafumi ^{[1
]}

Yoshida, Kenichi ^{[2
,6
]}

Shiraishi, Yuichi ^{[3
]}

Shimamura, Teppei ^{[3
]}

Sato, Yusuke ^{[2
,6
]}

Nishimura, Riki ^{[1
]}

Okuno, Yusuke ^{[2
]}

Chiba, Kenichi ^{[3
]}

Tanaka, Hiroko ^{[4
]}

Kato, Keisuke ^{[7
]}

Kato, Motohiro ^{[1
,5
,8
]}

Hanada, Ryoji ^{[5
]}

Nomura, Yuko ^{[9
]}

Park, Myoung-Ja ^{[10
]}

Ishida, Toshiaki ^{[11
]}

Oka, Akira ^{[1
]}

Igarashi, Takashi ^{[1
,12
]}

Miyano, Satoru ^{[3
,4
]}

Hayashi, Yasuhide ^{[9
]}

Ogawa, Seishi ^{[2
,6
]}

Takita, Junko ^{[1
]}

机构：

[1] Univ Tokyo, Dept Pediat, Tokyo 1138655, Japan

[2] Univ Tokyo, Grad Sch Med, Canc Genom Project, Tokyo 1138655, Japan

[3] Univ Tokyo, Lab DNA Informat Anal, Tokyo 1138655, Japan

[4] Univ Tokyo, Ctr Human Genome, Inst Med Sci, Tokyo 1138655, Japan

[5] Univ Tokyo, Dept Cell Therapy & Transplantat Med, Tokyo 1138655, Japan

[6] Kyoto Univ, Grad Sch Med, Dept Pathol & Tumor Biol, Kyoto, Japan

[7] Ibaraki Childrens Hosp, Div Pediat Hematol & Oncol, Mito, Ibaraki, Japan

[8] Saitama Childrens Med Ctr, Dept Hematol Oncol, Saitama, Japan

[9] Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan

[10] Gunma Childrens Med Ctr, Shibukawa, Gunma, Japan

[11] Hyogo Prefectural Kobe Childrens Hosp, Dept Hematol & Oncol, Kobe, Hyogo, Japan

[12] Natl Ctr Child Hlth & Dev, Tokyo, Japan

来源：

CANCER RESEARCH | 2014年 / 74卷 / 10期

基金：

日本学术振兴会;

关键词：

EXPRESSION; LANDSCAPE; MIRNA;

D O I：

10.1158/0008-5472.CAN-13-2470

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Pleuropulmonary blastoma (PPB) is a rare pediatric malignancy whose pathogens are poorly understood. Recent reports suggest that germline mutations in the microRNA-processing enzyme DICER1 may contribute to PPB development. To investigate the genetic basis of this cancer, we performed whole-exome sequencing or targeted deep sequencing of multiple cases of PPB. We found biallelic DICER1 mutations to be very common, more common than TP53 mutations also found in many tumors. Somatic ribonuclease III (RNase IIIb) domain mutations were identified in all evaluable cases, either in the presence or absence of nonsense/frameshift mutations. Most cases had mutated DICER1 alleles in the germline with or without an additional somatic mutation in the remaining allele, whereas other cases displayed somatic mutations exclusively where the RNase IIIb domain was invariably affected. Our results highlight the role of RNase IIIb domain mutations in DICER1 along with TP53 inactivation in PPB pathogenesis. (C)2014 AACR.

引用

页码：2742 / 2749

页数：8

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