Circulating microRNAs as biomarkers to assist the management of the malignant germ-cell-tumour subtype choriocarcinoma

Murray, Matthew J.; Smith, Stephen; Ward, Dawn; Nicholson, James C.; Scarpini, Cinzia G.

doi:10.1016/j.tranon.2020.100904

Cited by 13 publications

(13 citation statements)

References 48 publications

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“…Metastasized or relapsed mediastinal GCT carries a particularly poor prognosis, and follow-up consists of the imaging and evaluation of STMs. The latter are only informative when restricted histological subtypes are represented in the GCTs, particularly YST and choriocarcinoma [5]. Recent years have seen the emergence of embryonic miRNAs, especially the miR371-3 family, as a new generation of biomarkers in diagnosis and follow-up of malignant GCTs, offering a potentially promising improvement [5].…”

Section: Discussionmentioning

confidence: 99%

“…2021, 22, 9310 2 of 9 is, in effect, determined by the latent potency state of their cells of origin, which are reprogrammed to omnipotent/totipotent or pluripotent stem cells [2,4]. Serum tumor markers (STMs) are only reliable when restricted subtypes are represented in the GCT, especially related to AFP and HCG for YST and choriocarcinoma, respectively [5]. Definitive histopathological diagnosis guides further treatment.…”

Section: Introductionmentioning

confidence: 99%

“…After identification of a malignant GCT and during follow-up, serial radiological imaging to detect possible relapse carries a risk of associated cumulative radiation exposure [6,7]. However, this approach often needs to be included in the clinical management because STMs may not be reliable, as referred to earlier [5]. Recent developments regarding mi-croRNA (especially related to miR371a-3p) quantification for diagnosing and follow-up of malignant GCTs, predominantly studied in testicular primaries, offer a potentially promising improvement in diagnosis and follow-up [8,9].…”

Section: Introductionmentioning

confidence: 99%

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Recurrence of a Mediastinal Germ-Cell Tumor as a Somatic-Type Malignancy: A Complex Case Report

Hulsker

Kranendonk

Eleveld

et al. 2021

IJMS

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Background and case: An adolescent male presented with a second mediastinal tumor 1.5 years after treatment of a proven malignant germ-cell tumor in that location. The differential diagnosis included a recurrent germ-cell tumor or a non-germ cell malignancy. Serum tumor markers alpha-fetoprotein (AFP) and human chorionic gonadotrophin (HCG) were negative. The first biopsy was not informative, and the second biopsy gave a broad differential diagnosis including secondary non-germ cell malignancy using histology and immunohistochemistry. DNA methylation profiling, RNA sequencing, and targeted microRNA371a-3p profiling was subsequently performed, without a supportive result. After resection of the tumor the definitive diagnosis yielded two secondary non-germ cell malignancies in the form of a leiomyosarcoma and a solitary neuro endocrine carcinoma (NEC). In spite of the differences between the molecular profiles of the initial germ-cell tumor, the leiomyosarcoma and large-cell NEC are clonally related, as determined by the presence of identical chromosomal breakpoints. The copy number profiles suggest an initial polyploidization step, followed by various independent chromosomal gains and losses. This case demonstrates that germ-cell tumors must be evaluated carefully, including molecularly, in which the non-germ cell malignancy is negative for miR-371a-3p, both in tissue as well as in serum, in contrast to the primary tumor. We conclude that the patient presented with a primary type II mediastinal GCT and, a year and a half later, followed by a leiomyosarcoma and a large-cell NEC presenting as two secondary somatic-type malignancies clonally related to the original GCT. Conclusions: Malignant germ-cell tumors are known to recur as a somatic-type malignancy in very rare cases. This case report illustrates the challenges faced in defining the nature and clonality of the secondary somatic-type malignancies.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Recurrence of a Mediastinal Germ-Cell Tumor as a Somatic-Type Malignancy: A Complex Case Report

Hulsker

Kranendonk

Eleveld

et al. 2021

IJMS

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“…Other works have, still, explored further markers. For instance, the microRNAs of the “chromosome-19-microRNA-cluster” (C19MC) were also identified as over-represented in TGCTs, particularly in non-seminomas and more aggressive subtypes [ 105 ], being useful for the management of patients with choriocarcinoma [ 106 ].…”

Section: Micrornasmentioning

confidence: 99%

Liquid Biopsies in the Clinical Management of Germ Cell Tumor Patients: State-of-the-Art and Future Directions

Lobo

Leão

Jerónimo

et al. 2021

IJMS

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Liquid biopsies constitute a minimally invasive means of managing cancer patients, entailing early diagnosis, follow-up and prediction of response to therapy. Their use in the germ cell tumor field is invaluable since diagnostic tissue biopsies (which are invasive) are often not performed, and therefore only a presumptive diagnosis can be made, confirmed upon examination of the surgical specimen. Herein, we provide an overall review of the current liquid biopsy-based biomarkers of this disease, including the classical, routinely used serum tumor markers—the promising microRNAs rapidly approaching the introduction into clinical practice—but also cell-free DNA markers (including DNA methylation) and circulating tumor cells. Finally, and importantly, we also explore novel strategies and challenges for liquid biopsy markers and methodologies, providing a critical view of the future directions for liquid biopsy tests in this field, highlighting gaps and unanswered questions.

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“…This study indicates that miR-371∼373 and miR-302 clusters could be promising candidate biomarkers for disease monitoring in malignant germ-cell tumors. A serum panel of choriocarcinoma-specific “chromosome-19-microRNA-cluster” (C19MC) microRNAs have been identified and were highly elevated at diagnosis but dropped rapidly upon starting treatment and normalized prior to the start of the second full chemotherapy course [ 140 ]. At diagnosis, the same authors also reconfirmed serum elevation of the previously identified marker of malignant germ-cell tumors, miR-371a-3p.…”

Section: Circulating Mirnas As Potential Biomarkersmentioning

confidence: 99%

Could MicroRNAs Be Useful Tools to Improve the Diagnosis and Treatment of Rare Gynecological Cancers? A Brief Overview

Fiore

Suleiman

Pentimalli

et al. 2021

IJMS

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Gynecological cancers pose an important public health issue, with a high incidence among women of all ages. Gynecological cancers such as malignant germ-cell tumors, sex-cord-stromal tumors, uterine sarcomas and carcinosarcomas, gestational trophoblastic neoplasia, vulvar carcinoma and melanoma of the female genital tract, are defined as rare with an annual incidence of <6 per 100,000 women. Rare gynecological cancers (RGCs) are associated with poor prognosis, and given the low incidence of each entity, there is the risk of delayed diagnosis due to clinical inexperience and limited therapeutic options. There has been a growing interest in the field of microRNAs (miRNAs), a class of small non-coding RNAs of ∼22 nucleotides in length, because of their potential to regulate diverse biological processes. miRNAs usually induce mRNA degradation and translational repression by interacting with the 3′ untranslated region (3′-UTR) of target mRNAs, as well as other regions and gene promoters, as well as activating translation or regulating transcription under certain conditions. Recent research has revealed the enormous promise of miRNAs for improving the diagnosis, therapy and prognosis of all major gynecological cancers. However, to date, only a few studies have been performed on RGCs. In this review, we summarize the data currently available regarding RGCs.

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Circulating microRNAs as biomarkers to assist the management of the malignant germ-cell-tumour subtype choriocarcinoma

Cited by 13 publications

References 48 publications

Recurrence of a Mediastinal Germ-Cell Tumor as a Somatic-Type Malignancy: A Complex Case Report

Recurrence of a Mediastinal Germ-Cell Tumor as a Somatic-Type Malignancy: A Complex Case Report

Liquid Biopsies in the Clinical Management of Germ Cell Tumor Patients: State-of-the-Art and Future Directions

Could MicroRNAs Be Useful Tools to Improve the Diagnosis and Treatment of Rare Gynecological Cancers? A Brief Overview

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