The germinoma family of tumors
2023-04-24 Andres M. Acosta, MD Affiliation1.Department of Pathology, Indiana University, Indianapolis, IN
Classification
Definition
The germinoma family of tumors includes germ cell neoplasms with shared histologic and biologic features that arise in different anatomical sites. In the testis, this category is represented by seminoma. Neoplasms arising in the ovary and central nervous system are termed dysgerminoma and germinoma, respectively.
| Seminoma | Genetic Event(s) |
|---|---|
| Seminoma | Whole genome duplication events (median ploidy ~3.1), recurrent losses of chromosomal arms (e.g., 11p) and gain of sequences of 12p , mainly as i(12p) (~60-80%). 1-3 Furthermore, comparative genomic hybridization studies have shown that focal amplification of 12p11.2-p12.1, which includes the KRAS locus, could be observed in the absence of i(12p), chromosome. 4 Subsets demonstrate KIT, KRAS and NRAS mutations. 3 KIT mutations are associated with sensitivity and KRAS/NRAS mutations are associated with resistance to platinum-based chemotherapy in seminomas. 5 Seminomas with KIT mutations seem to be "locked" in a primitive staged, characterized by global genomic hypomethylation and canot differentiate to other histologic subtypes of GCT. 3 Seminomas express miR-371a-3p, which seems to represent a good biomarker in liquid biopsies .3,6 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 6128640 | 1982 | Specific chromosome change, i(12p), in testicular tumours? | Atkin NB et al |
| 2 | 2536126 | 1989 | Ploidy of primary germ cell tumors of the testis. Pathogenetic and clinical relevance. | Oosterhuis JW et al |
| 3 | 29898407 | 2018 | Integrated Molecular Characterization of Testicular Germ Cell Tumors. | Shen H et al |
| 4 | 11021820 | 2000 | Restricted 12p amplification and RAS mutation in human germ cell tumors of the adult testis. | Roelofs H et al |
| 5 | 32366847 | 2020 | Genomic landscape of platinum resistant and sensitive testicular cancers. | Loveday C et al |
| 6 | 27495845 | 2017 | Serum Levels of MicroRNA miR-371a-3p: A Sensitive and Specific New Biomarker for Germ Cell Tumours. | Dieckmann KP et al |
Citation
Andres M. Acosta, MD
The germinoma family of tumors
Atlas Genet Cytogenet Oncol Haematol. 2023-04-24
Online version: http://atlasgeneticsoncology.org/solid-tumor/209118/tumors-explorer/
