Non-invasive germ cell neoplasia of the testis
2023-04-17 Andres M. Acosta, MD Affiliation1.Department of Pathology, Indiana University, Indianapolis, IN
Classification
Definition
Non-invasive germ cell neoplasia includes neoplasms of germ cell origin that are confined to seminiferous tubules and do not infiltrate the stroma. These include germ cell neoplasia in-situ, specific types of intratubular neoplasia (e.g., intratubular seminoma or embryonal carcinoma) and gonadoblastoma. Gonadoblastoma is an unusual neoplasm that often occurs in dysgenetic gonads and comprises both germ cell and sex cord-stromal components. It occurs in the context of disorder of sex development and their development requires the presence of genes located in the GBY region of chromosome Y, which contains TSPY1. 1 Of note, post-pubertal-type germ cell tumors may originate in gonadoblastomas.
| Non-invasive germ cell neoplasia of the testis | |
|---|---|
| Germ cell neoplasia in situ (GCNIS) | GCNIS seems to arise from reprograming of germ cell (GC) precursors that undergo whole-genome duplication events. 2 Unlike invasive GCT, GCNIS usually lacks i(12p) or gains of sequences of 12p and do not how the allelic imbalances that are seen in invasive germ cell tumor components. 2-4 |
| Specific forms of intratubular germ cell neoplasia | Specific forms of intratubular germ cell neoplasia include germ cell neoplasms confined to seminiferous tubules other than germ cell neoplasia in situ (e.g., intratubular seminoma, intratubular embryonal carcinoma). The specific molecular features of thse lesions have not been studied in detail. |
| Gonadoblastoma | Typical testicular gonadoblastomas occur in the context of disorders of sex development (DSD) and require the presence of Y chromosome material containing the TSPY1 gene. 5,6 Very rarely, gonadoblastomas may arise in patients with normal karyotypes (mostly 46, XX), and it has been hypothesized that these neoplasms may arise following a different molecular pathway. 1 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 31805291 | 2020 | Gonadoblastoma: origin and outcome. | Roth LM et al |
| 2 | 30739914 | 2019 | Molecular heterogeneity and early metastatic clone selection in testicular germ cell cancer development. | Dorssers LCJ et al |
| 3 | 29898407 | 2018 | Integrated Molecular Characterization of Testicular Germ Cell Tumors. | Shen H et al |
| 4 | 33798590 | 2021 | Assessment of isochromosome 12p and 12p abnormalities in germ cell tumors using fluorescence in situ hybridization, single-nucleotide polymorphism arrays, and next-generation sequencing/mate-pair sequencing. | Freitag CE et al |
| 5 | 8533770 | 1995 | Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. | Tsuchiya K et al |
| 6 | 11173850 | 2000 | Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma. | Lau Y et al |
Citation
Andres M. Acosta, MD
Non-invasive germ cell neoplasia of the testis
Atlas Genet Cytogenet Oncol Haematol. 2023-04-17
Online version: http://atlasgeneticsoncology.org/solid-tumor/209114/non-invasive-germ-cell-neoplasia-of-the-testis
