Evidence map›Paper›PMID 37021926›Full record

ArticleCancer medicine2023

Prevalence of pathogenic variants in cancer-predisposing genes in second cancer after childhood solid cancers.

Masanori Yoshida, Kazuhiko Nakabayashi, Wentao Yang, Aiko Sato-Otsubo, Shin-Ichi Tsujimoto, Hiroko Ogata-Kawata, Tomoko Kawai, Keisuke Ishiwata, Mika Sakamoto, Kohji Okamura and 25 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cancer medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

35 authors.

Masanori YoshidaDepartment of Pediatric Hematology and Oncology Research, Research Institute, National Center for Child Health and Development, Tokyo, Japan.ORCID 0000-0003-1520-7007
Kazuhiko NakabayashiDepartment of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Wentao YangDepartment of Pharmacy and Pharmaceutical Sciences, St. Jude Children's Research Hospital, Tennessee, Memphis, USA.
Aiko Sato-OtsuboDepartment of Pediatric Hematology and Oncology Research, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Shin-Ichi TsujimotoDepartment of Pediatric Hematology and Oncology Research, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Hiroko Ogata-KawataDepartment of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Tomoko KawaiDepartment of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Keisuke IshiwataDepartment of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Mika SakamotoMedical Genome Center, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Kohji OkamuraDepartment of Systems BioMedicine, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Kaoru YoshidaDepartment of Pediatric Hematology and Oncology Research, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Ryota ShiraiDepartment of Pediatric Hematology and Oncology Research, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Tomoo OsumiDepartment of Pediatric Hematology and Oncology Research, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Chikako KiyotaniChildren's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
Yoko ShiodaChildren's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
Keita TerashimaChildren's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
Sae IshimaruDepartment of Hematology/Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Yuki YuzaDepartment of Hematology/Oncology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Masatoshi TakagiDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.ORCID 0000-0002-7580-9184
Yuki ArakawaDepartment of Hematology/Oncology, Saitama Children's Medical Center, Saitama, Japan.
Toshihiko ImamuraDepartment of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan.
Daisuke HasegawaDepartment of Pediatrics, St. Luke's International Hospital, Tokyo, Japan.
Akiko InoueDepartment of Pediatrics, Osaka Medical and Pharmaceutical University, Takatsuki, Japan.
Takako YoshiokaDepartment of Pathology, National Center for Child Health and Development, Tokyo, Japan.
Shuichi ItoDepartment of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Daisuke TomizawaChildren's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
Katsuyoshi KohDepartment of Hematology/Oncology, Saitama Children's Medical Center, Saitama, Japan.
Kimikazu MatsumotoChildren's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
Nobutaka KiyokawaDepartment of Pediatric Hematology and Oncology Research, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Seishi OgawaDepartment of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Atsushi ManabeDepartment of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Akira NiwaDepartment of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan.
Kenichiro HataDepartment of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Jun J YangDepartment of Pharmacy and Pharmaceutical Sciences, St. Jude Children's Research Hospital, Tennessee, Memphis, USA.
Motohiro KatoDepartment of Pediatric Hematology and Oncology Research, Research Institute, National Center for Child Health and Development, Tokyo, Japan.ORCID 0000-0001-5145-1774

Funding

Pharmacogenetics of Nucleobase and Nucleoside Analog DrugsR35GM141947 · NIGMS · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI YANG, JUN J. · 2021 to 2025
$2.9M
NIGMS NIH HHS R35 GM141947
6 · The paper itself

Abstract

backgroundSecond malignant neoplasms (SMNs) are one of the most severe late complications after pediatric cancer treatment. However, the effect of genetic variation on SMNs remains unclear. In this study, we revealed germline genetic factors that contribute to the development of SMNs after treatment of pediatric solid tumors.

methodsWe performed whole-exome sequencing in 14 pediatric patients with SMNs, including three brain tumors.

resultsOur analysis revealed that five of 14 (35.7%) patients had pathogenic germline variants in cancer-predisposing genes (CPGs), which was significantly higher than in the control cohort (p < 0.01). The identified genes with variants were TP53 (n = 2), DICER1 (n = 1), PMS2 (n = 1), and PTCH1 (n = 1). In terms of the type of subsequent cancer, leukemia and multiple episodes of SMN had an exceptionally high rate of CPG pathogenic variants. None of the patients with germline variants had a family history of SMN development. Mutational signature analysis showed that platinum drugs contributed to the development of SMN in three cases, which suggests the role of platinum agents in SMN development.

conclusionsWe highlight that overlapping effects of genetic background and primary cancer treatment contribute to the development of second cancers after treatment of pediatric solid tumors. A comprehensive analysis of germline and tumor samples may be useful to predict the risk of secondary cancers.

Indexed as

Brain NeoplasmsLeukemiaNeoplasms, Second PrimaryChildDEAD-box RNA HelicasesGenetic Predisposition to DiseaseGerm-Line MutationHumansPlatinumPrevalenceRibonuclease IIIDEAD-box RNA HelicasesDICER1 protein, humanPlatinumRibonuclease IIIcancer predispositionchildhood solid cancersecond malignant neoplasms

Identifiers

PMID37021926
PMCPMC10242325

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.