Recent advances in molecular biology and treatment strategies for intracranial germ cell tumors

Huang, Xiang; Zhang, Rong; Mao, Ying; Zhou, Lei; Zhang, Chao

doi:10.1007/s12519-016-0021-2

Cited by 24 publications

(18 citation statements)

References 80 publications

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“…Японская классификация ГО разделяет их на группы хорошего, промежуточного и плохого прогноза [9]. В группу хорошего прогноза входят «чистая» герминома и зрелая тератома; в группу промежуточного прогноза -смешанные опухоли, состоящие преимущественно из клеток герминомы или зрелой тератомы в сочетании с клетками незрелой тератомы; в группу плохого прогноза -хориокарцинома, опухоль желточного мешка, эмбриональная карцинома и смешанные опухоли из клеток любого из этих типов [10,11].…”

Section: эпидемиология и классификацииunclassified

“…Лекция области зародыша [12]. Некоторые авторы считают, что предшественники половых клеток «ошибочно» мигрируют и попадают в область срединной линии вдоль переднезадней оси тела, что подтверждается локализацией экстракраниальных ГО в средостении и забрюшинном пространстве и общими их свойствами, такими как метилирование ДНК, экспрессия генов, секреция маркеров и хромосомные повреждения [10,13].…”

Section: Russian Journal Of Neurosurgeryunclassified

“…Данные исследований показывают, что тератомы могут возникать из других зародышевых клеток, и предполагается, что другие подтипы ГО также могут развиваться из незародышевых клеточных линий [10]. Другая теория утверждает, что вероятным источником первичных ГО ЦНС являются эндогенные нейронные стволовые клетки головного мозга.…”

Section: Russian Journal Of Neurosurgeryunclassified

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Primary germ cell tumors of the central nervous system

Мартынов

Martynov

Svistov

2019

Nejrohirurgiâ (Mosk.)

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The study objective is to describe current views on pathogenesis, molecular biology, diagnosis, treatment of primary germ cell tumors of the central nervous system, as well as treatment prognosis.Materials and methods. The review includes 51 literature sources (4 in Russian, 47 in English). All articles were published in the last 20 years.Results and conclusion. The review reflects both established principles and characteristics of the national protocol of treatment of germ cell tumors, treatment nuances determined by histological type of the tumor. The most effective treatment method for germ cell tumors are radiation and neoadjuvant chemotherapy. For non-germinal germ cell tumors chemotherapy with subsequent complete removal is optimal. Total tumor resection by itself is the ideal treatment of mature teratomas. In the future, molecular and cytogenetic studies will allow to additionally identify subtypes of germ cell tumors of the central nervous system which will become the basis of new directions for therapy, improved treatment results and methods of prognosis.

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Section: эпидемиология и классификацииunclassified

Section: Russian Journal Of Neurosurgeryunclassified

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Primary germ cell tumors of the central nervous system

Мартынов

Martynov

Svistov

2019

Nejrohirurgiâ (Mosk.)

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“…Conversely, they make up to 0.4 to 3.4% for the same disease in the Western cohort [6,7]. Owing to this racial predilection, several IG-related studies are based on Far Eastern populations [6,8,9]. The protooncogene c-KIT (KIT), which is highly expressed in all IG, encodes a transmembrane tyrosine kinase receptor for stem cell factor that is related to the platelet-derived growth factor receptor A (PDGFRA) [10].…”

Section: Introductionmentioning

confidence: 99%

Molecular exploration of paediatric intracranial germinomas from multi-ethnic Singapore

Low

Zou

et al. 2020

BMC Neurol

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Background Germinomas (IG) account for up to 50% of all intracranial germ cell tumours. These tumours are reputed to be more prevalent in Oriental populations in comparison to Western cohorts. Biological characteristics of IG in other ethnic groups are unknown. Singapore is a multi-ethnic country with diverse cultures. Owing to inter-racial heterogeneity, the authors hypothesize there are molecular differences between paediatric IG patients in our local population. The aims of this study are exploratory: firstly, to identify molecular characteristics in this tumour type and circulating CSF unique to different racial cohorts; and next, to corroborate our findings with published literature. Methods This is a single-institution, retrospective study of prospectively collected data. Inclusion criteria encompass all paediatric patients with histologically confirmed IG. Excess CSF and brain tumour tissues are collected for molecular analysis. Tumour tissues are subjected to a next generation sequencing (NGS) targeted panel for KIT and PDGRA. All CSF samples are profiled via a high-throughput miRNA multiplexed workflow. Results are then corroborated with existing literature and public databases. Results In our cohort of 14 patients, there are KIT exon variants in the tumour tissues and CSF miRNAs corroborative with published studies. Separately, there are also KIT exon variants and miRNAs not previously highlighted in IG. A subgroup analysis demonstrates differential CSF miRNAs between Chinese and Malay IG patients. Conclusion This is the first in-depth molecular study of a mixed ethnic population of paediatric IGs from a Southeast Asian cohort. Validation studies are required to assess the relevance of novel findings in our study.

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“…However, CNS irradiation in young age is associated with side effects and decreased quality of life afterwards. The non-germinomatous malignant tumours vary in therapeutic response resulting in a less satisfactory outcome [5,22,39]. There is a need to create new, more effective therapeutic strategies with lower toxicity, which might be possible through a better understanding of the biological mechanisms of development and progression of these neoplasms.…”

Section: Introductionmentioning

confidence: 99%

Hedgehog signalling network gene status analysis in paediatric intracranial germ cell tumours

Kuleszo

Lipska‐Ziętkiewicz

Koczkowska

et al. 2019

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Introduction: Germ cell tumours (GCTs) in the children comprise a group of tumours that originate from primordial germ cells but their pathogenesis is not clear. Intracranial GCTs represent a special subset of these paediatric neoplasms. Hedgehog (Hh) pathway gene status in GCTs is generally unexplored, while Hh signalling is involved in germ cell biology. Material and methods: Comparative genomic profiling analysis with a microarray-comparative genomic hybridization (CGH) + single nucleotide polymorphism (SNP) technique in a group of intracranial paediatric GCTs was performed. The analysis included evaluation of genes being ligands, receptors, regulators, effectors, and targets of Hh signalling. Results: Chromosomal aberrations were found in 62% of examined tumours, showing their heterogeneity. A number of private genomic imbalances were observed, but only a few recurrent ones. The most common numerical changes were trisomies 19, 21 and monosomies 13, 18 while the most frequent structural aberration was gain/ amplification of the chromosome 12p. The analysis of the gene status of Hh network elements showed imbalances in a proportion of tumours. PTCH1, GLI2, IHH and ZIC2 gene aberrations occurred most frequently. Moreover, six tumours had various copy gains or losses of several other genes involved in the pathway, including HHIP, GLI1, GLI3, DHH, SHH, SMO, PTCH2, and several genes from the WNT group. Interestingly, four cases showed losses of pathway repressors, with parallel gains of activators in two of them. Correlations with patho-clinical tumour features were not found, most probably due to the heterogeneity of the examined limited group. Conclusions: Our results show few genomic alterations related to the Hh signalling pathway genes in paediatric intracranial GCTs. Further analysis of Hedgehog pathway alterations can potentially disclose its biological significance and define new prognostic factors and/or therapeutic targets for high-risk patients.

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Recent advances in molecular biology and treatment strategies for intracranial germ cell tumors

Cited by 24 publications

References 80 publications

Primary germ cell tumors of the central nervous system

Primary germ cell tumors of the central nervous system

Molecular exploration of paediatric intracranial germinomas from multi-ethnic Singapore

Hedgehog signalling network gene status analysis in paediatric intracranial germ cell tumours

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