Germ cell tumors unrelated to germ cell neoplasia in situ
2023-05-02 Andres M. Acosta, MD Affiliation1.Department of Pathology, Indiana University, Indianapolis, IN
Classification
Definition
Germ cell tumors unrelated to GCNIS include pre-pubertal type germ cell neoplasms with yolk sac or teratoma histology, as well as rare types of germ cell neoplasms arising in post pubertal patients (most notably spermatocytic tumor). Pre-pubertal-type gem cell tumors are diploid (teratoma) or aneuploid (yolk sac tumor) and lack i(12p). 1,2 Spermatocytic tumors often affect older men and are largely indolent, although a small subset may undergo sarcomatous transformation and behave aggressively. 3 Spermatocytic tumors are often polyploid (near-triploid, near-tetraploid), and a subset is driven by gain of function variants in kinase genes such as FGFR3, KRAS and NRAS. 4
| Germ cell tumors unrelated to germ cell neoplasia in situ | Genetics Events |
|---|---|
| Spermatocytic tumor | Associated with aneuploidy (near-triploid to near-tetraploid genomes), gains of 9p that include the DMRT1 locus,5 as well as HRAS and FGFR3 mutations. 6 Increased copy number of ETV6 signals. 7 |
| Teratoma, prepubertal-type | Unlike post-pubertal teratoma, pre-pubertal counterparts are diploid and do not harbor i(12p).8. |
| Yolk sac tumour, prepubertal-type | Pre-pubertal yolk sac tumor are often aneuploid and do not harbor i(12p).2 |
| Testicular neuroendocrine tumour, prepubertal-type | No specific molecular alterations identified so far. |
| Mixed teratoma and yolk sac tumour, prepubertal-type | These tumours lack overrrepresentation of sequences of 12p/i(12p). |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 15761466 | 2005 | Origins and molecular biology of testicular germ cell tumors. | Reuter VE et al |
| 2 | 10779021 | 2000 | Genetic analysis of childhood endodermal sinus tumors by comparative genomic hybridization. | Perlman EJ et al |
| 3 | 31646373 | 2019 | A systematic review of treatment outcomes in localised and metastatic spermatocytic tumors of the testis. | Grogg JB et al |
| 4 | 28542371 | 2017 | Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline. | Giannoulatou E et al |
| 5 | 16397242 | 2006 | Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene. | Looijenga LH et al |
| 6 | 19855393 | 2009 | Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. | Goriely A et al |
| 7 | 29937234 | 2018 | Metastatic spermatocytic tumour with hybrid genetics: breaking the rules in germ cell tumours. | Wagner T et al |
| 8 | 23598964 | 2013 | Evidence supporting the existence of benign teratomas of the postpubertal testis: a clinical, histopathologic, and molecular genetic analysis of 25 cases. | Zhang C et al |
Citation
Andres M. Acosta, MD
Germ cell tumors unrelated to germ cell neoplasia in situ
Atlas Genet Cytogenet Oncol Haematol. 2023-05-02
Online version: http://atlasgeneticsoncology.org/solid-tumor/209122/germ-cell-tumors-unrelated-to-germ-cell-neoplasia-in-situ
