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Supplementary Figures 1 - 6, Tables 1 - 7 from Biallelic DICER1 Mutations in Sporadic Pleuropulmonary Blastoma

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posted on 2023-03-30, 22:12 authored by Masafumi Seki, Kenichi Yoshida, Yuichi Shiraishi, Teppei Shimamura, Yusuke Sato, Riki Nishimura, Yusuke Okuno, Kenichi Chiba, Hiroko Tanaka, Keisuke Kato, Motohiro Kato, Ryoji Hanada, Yuko Nomura, Myoung-Ja Park, Toshiaki Ishida, Akira Oka, Takashi Igarashi, Satoru Miyano, Yasuhide Hayashi, Seishi Ogawa, Junko Takita

PDF file - 1805KB, Supplementary Table S1. List of primers used for validation of somatic mutations detected by whole-exome sequencing. Supplementary Table S2. Primers for DICER1 sequencing of all coding exons. Supplementary Table S3. Primers for DICER1 sequencing of all coding exons in paraffin embedded samples. Supplementary Table S4. Primers for TP53, UBA2, PDCD2L, CTNNB1, and GPR182. Supplementary Table S5. List of mutated genes detected by whole-exome sequencing. Supplementary Table S6. Allele frequency of DICER1 mutations in cases with unknown somatic status. Supplementary Table S7. Recurrent mutations detected by whole-exome sequencing. Supplementary Figure S1. Analyzing processes using Genomon. Supplementary Figure S2. Mean coverage of whole-exome sequencing in primary tumor, relapse tumor, and control samples. Supplementary Figure S3. Mean coverage of whole exome sequencing with GC contents in primary tumor, relapse tumor and control samples. Supplementary Figure S4. Detected mutations of DICER1 by Sanger sequencing. Supplementary Figure S5. Distribution of genetic lesions with 14 samples in PPB cases. Supplementary Figure S6. Common amplification lesion at 19q13.11.

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ARTICLE ABSTRACT

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. Cancer Res; 74(10); 2742–9. ©2014 AACR.

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