Recent developments in the management of germ cell tumors

Msaouel, Pavlos; Bilen, Mehmet Asım; Zhang, Miao; Campbell, Matthew T.; Wang, Jennfier; Tu, Shi‐Ming

doi:10.1097/cco.0000000000000361

Cited by 4 publications

(4 citation statements)

References 67 publications

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“…He undertook hematopoietic stem cell transplantation and surgical resection for AML and GCT, respectively, and survived. In addition to multipronged therapy, novel targeted therapies based on the molecular abnormalities may be required to improve the dismal prognosis [23–26].…”

Section: Discussionmentioning

confidence: 99%

TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia

Akizuki

Sekine

Kogure³

et al. 2020

BMC Cancer

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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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Section: Discussionmentioning

confidence: 99%

TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia

Akizuki

Sekine

Kogure³

et al. 2020

BMC Cancer

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“…5 GCTs are characterized by distinct heterogeneity, which impacts their biological behavior and clinical management. 6 This complex nature is reflected in the updated WHO classification of testicular cancer. 7 Terminal deoxynucleotidyl transferase (TdT), a nontemplate directed DNA polymerase, is highly expressed in immature B or T lymphoid cells as well as lymphoblastic lymphoma/leukemia (LBL).…”

Section: Introductionmentioning

confidence: 99%

Terminal Deoxynucleotidyl Transferase Commonly Expresses in Germ Cell Tumors: Evaluation on a Large Series from Multiple Centers

Zhou

Suying²,

Zhu

et al. 2021

IJGM

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The concrete features of expression of terminal deoxynucleotidyl transferase (TdT) are needed to be revealed in male and female germ cell tumors (GCTs). Methods: TdT immunostaining was performed in 195 GCTs, and the tumor and/or tumorous components included seminomas, germ cell neoplasias in situ (GCNISs), dysgerminomas, embryonal carcinomas (ECs), extragonadal germinomas, yolk sac tumors (YSTs), teratomas, and spermatocytic tumors. Twenty-one sex cord-stromal tumors were also added. Expression of the classical germ cell tumor markers (PLAP, OCT4, SALL4, CD117, and D2-40) was compared to that of TDT. Results: Nearly all (tumors or tumorous components) seminomas (99%, 107/108), GCNISs (98%, 51/52), dysgerminomas (94%, 17/18), ECs (100%, 15/15), and extragonadal germinomas (100%, 11/11) were positive for TdT. None of the cells in YSTs (0/38), teratomas (0/ 19), spermatocytic tumors (0/1), or sex cord-stromal tumors (0/21) were immunoreactive for TdT staining. The normal testicular and ovarian gonadal tissues were also negative for TdT. However, TdT presented with significant loss of antigen immunoreactivity in the paraffinembedded tissues older than 3 years, giving rise to weak or moderate staining in a subset of cases. The expressions of TdT showed no significances with PLAP, OCT4, SALL4, CD117, and D2-40 during the diagnosis of the most GCTs (P>0.05), except for with PLAP, SALL4, or CD117 in YST (P=0.000 each), and D117 (P=0.000) or D2-40 (P=0.006) in ECs. Conclusion: Our findings further verify that TdT can serve as a new GCT marker for seminomas, GCNISs, dysgerminomas, ECs, and extragonadal germinomas, with a highly positive rate. Awareness of TdT positivity in GCTs contributes to the prevention of erroneous diagnoses, particularly in the setting of core needle biopsies. To determine the properties where TdT staining may not be apparent in some old archived paraffin-embedded tissues, one could circumvent the potential misinterpretations of false-negative immunohistochemistry results.

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Section: Discussionmentioning

confidence: 99%

TP53 and PTEN Mutations Were Shared in Concurrent Germ Cell Tumor and Acute Megakaryoblastic Leukemia

Akizuki

Sekine

Kogure³

et al. 2019

Preprint

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Background: The 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. Methods: We performed whole-exome sequencing analysis of mediastinal GCT and acute myeloid leukemia (AML) samples obtained from one young male adult patient with concurrent both tumors, and investigated the possible clonal relationship between them. Results: 16 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. Conclusions: All 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.

show abstract

Recent developments in the management of germ cell tumors

Cited by 4 publications

References 67 publications

TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia

TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia

Terminal Deoxynucleotidyl Transferase Commonly Expresses in Germ Cell Tumors: Evaluation on a Large Series from Multiple Centers

TP53 and PTEN Mutations Were Shared in Concurrent Germ Cell Tumor and Acute Megakaryoblastic Leukemia

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