Germ Cell Tumors from a Developmental Perspective: Cells of Origin, Pathogenesis, and Molecular Biology (Emerging Patterns)

Oosterhuis, J. Wolter; Looijenga, Leendert

doi:10.1007/978-3-662-53775-6_3

Cited by 23 publications

(57 citation statements)

References 670 publications

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“…The former is characterized by the absence of GCNIS and 12p abnormalities, while the latter typically shows these features. However, prepubertal-type teratoma may appear in postpubertal testes [7][8][9][10].…”

Section: Discussionmentioning

confidence: 99%

“…Postpubertal-type teratomas are rarely pure tumors, they are regarded as malignant showing metastatic potential, the majority of them harbors 12p abnormalities typical of malignant germ cell tumors [4,5,6]. Germ cell neoplasia in situ (GCNIS) is virtually always present in the adjacent testicular tissue, a finding that is lacking in prepubertal-type cases [7]. Despite the name suggesting otherwise, prepubertal-type teratomas are not limited to testes of children, these benign teratomas may occur in adults beyond puberty [8,9,10].…”

Section: Introductionmentioning

confidence: 99%

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Histology, 12p status, and IMP3 expression separate subtypes in testicular teratomas

et al. 2020

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Introduction Two types of testicular teratomas are distinguished by the current WHO classification. Prepubertal-type teratomas are benign, while postpubertal-type teratomas are considered malignant with metastatic potential, and are associated with germ cell neoplasia in situ. Prepubertal-type cases have been reported in the adult testis potentially causing confusion and overtreatment. Demonstration of the absence of 12p abnormalities with fluorescence in situ hybridization may facilitate diagnosis. Recently, IMP3 has emerged as a potential marker of malignancy in this context. Aims The aim of this study was to assess histological characteristics, IMP3 expression and the presence of 12p abnormalities of pure testicular teratomas. Results Thirty-seven cases were studied, 7 patients were children and 30 were adults. Six out of 7 pediatric cases showed no 12p abnormality and were IMP3 positive. Seventy-four percent and 79% of adult cases showed 12p abnormalities and IMP3 expression, respectively. Negative cases were not associated with in situ neoplasia or metastasis, they were smaller (mean, 14 vs 39 mm), showed less histological diversity (2.4 vs 4.0 types of tissues on average) compared to positive cases. Conclusion Our study provides further evidence that prepubertal-type (type I) teratomas may appear in adult testes, thus teratomas in adults may be either benign (type I) or malignant (type II). IMP3 expression may aid the distinction between type I and type II teratomas of the postpubertal testis even when GCNIS and 12p status cannot be assessed.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Histology, 12p status, and IMP3 expression separate subtypes in testicular teratomas

et al. 2020

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“…They migrate along the body to locate in the primitive gonads under control of complex mechanisms involving, among other things, sterol concentrations and Hh guiding. Further gonadal development is also connected to this pathway [4,11,12,20,34,38].…”

Section: Discussionmentioning

confidence: 99%

“…GCTs are classified into several histological subtypes and in a significant portion of cases present as mixed tumours. The vast majority of these tumours are located in gonads, while extragonadal cases develop in the mediastinum, retroperitoneum, sacral region, and in the central nervous system (CNS) [34,39]. GCTs arising in the CNS affect mainly adolescent boys and young men and grow in the pineal, suprasellar region and around the third ventricle.…”

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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“…Lymphoma and leukemia arise from the hematopoietic cell that matures in the blood and lymph nodes after leaving the bone marrow (Goetsch et al, 2017). Germ cell tumor is derived from pluripotent cells and they are not easy to predict at the early stage in both tests and ovary ( Oosterhuis et al, 2017). Similarly, blastoma develops from the precursor cells or embryonic tissue.…”

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confidence: 99%

Gene therapy as advanced technology for the treatment of Leukemia: CAR-T therapy

Tripathi¹,

Singh²

2018

Asian J Pharm Pharmacol

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Germ Cell Tumors from a Developmental Perspective: Cells of Origin, Pathogenesis, and Molecular Biology (Emerging Patterns)

Cited by 23 publications

References 670 publications

Histology, 12p status, and IMP3 expression separate subtypes in testicular teratomas

Histology, 12p status, and IMP3 expression separate subtypes in testicular teratomas

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

Gene therapy as advanced technology for the treatment of Leukemia: CAR-T therapy

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