ArticleBMC cancer2020
TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia.
Article in BMC cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- The clinical and phenotypic spectrum of PTEN hamartoma tumor syndrome: a retrospective cohort study.Familial cancer · 2026Article
- A rare entity in the retroperitoneum: Case report of a primary seminoma.Urology case reports · 2026Article
- Research progress on the mechanisms of CSF3R mutations in leukemogenesis and treatment strategies.Cancer cell international · 2025Review
- Article
- Anticancer drugs: How to select small molecule combinations?Trends in pharmacological sciences · 2024Review
- Occult extracranial malignancy after complete remission of pineal mixed germ cell tumors: a rare case report and literature review.BMC pediatrics · 2023Review
- Primary Mediastinal Germ Cell Tumors: A Thorough Literature Review.Biomedicines · 2023Review
- Immune-related mechanisms and immunotherapy in extragonadal germ cell tumors.Frontiers in immunology · 2023Review
- Genomic features of mediastinal germ cell tumors: a narrative review.Mediastinum (Hong Kong, China) · 2022Review
- Acute Mast Cell Leukemia Preceded by Malignant Mediastinal Germ Cell Tumor: A Case Report and Literature Review.Cancer management and research · 2022Article
- Mediastinal germ cell tumors: a narrative review of their traits and aggressiveness features.Mediastinum (Hong Kong, China) · 2022Review
- Review
- Salvage Cord Blood Transplantation for Sustained Remission of Acute Megakaryoblastic Leukemia That Relapsed Early after Myeloablative Transplantation.Internal medicine (Tokyo, Japan) · 2021Article
- To Be or Not to Be a Germ Cell: The Extragonadal Germ Cell Tumor Paradigm.International journal of molecular sciences · 2021Review
- STAT3-PTTG11 abrogation inhibits proliferation and induces apoptosis in malignant glioma cells.Oncology letters · 2020Article
Corrections and comments
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Authors and funding
16 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThe occurrence of a mediastinal germ cell tumor (GCT) and hematological malignancy in the same patient is very rare. Due to its rarity, there have been only two reports of the concurrent cases undergoing detailed genetic analysis with whole-exome sequencing (WES), and the possible clonal relationship between the both tumors remained not fully elucidated.
methodsWe performed whole-exome sequencing analysis of mediastinal GCT and acute myeloid leukemia (AML) samples obtained from one young Japanese male adult patient with concurrent both tumors, and investigated the possible clonal relationship between them.
resultsSixteen somatic mutations were detected in the mediastinal GCT sample and 18 somatic mutations in the AML sample. Mutations in nine genes, including TP53 and PTEN both known as tumor suppressor genes, were shared in both tumors.
conclusionsAll in our case and in the previous two cases with concurrent mediastinal GCT and AML undergoing with whole-exome sequencing analysis, TP53 and PTEN mutations were commonly shared in both tumors. These data not only suggest that these tumors share a common founding clone, but also indicate that associated mediastinal GCT and AML harboring TP53 and PTEN mutations represent a unique biological entity.
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