Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology

dc.contributor.authorLooijenga, Leendert H. J.
dc.contributor.authorKao, Chia-Sui
dc.contributor.authorIdrees, Muhammad T.
dc.contributor.departmentPathology and Laboratory Medicine, School of Medicineen_US
dc.date.accessioned2020-01-09T15:35:23Z
dc.date.available2020-01-09T15:35:23Z
dc.date.issued2019-10-10
dc.description.abstractThe risk of gonadal germ cell cancer (GGCC) is increased in selective subgroups, amongst others, defined patients with disorders of sex development (DSD). The increased risk is due to the presence of part of the Y chromosome, i.e., GonadoBlastoma on Y chromosome GBY region, as well as anatomical localization and degree of testicularization and maturation of the gonad. The latter specifically relates to the germ cells present being at risk when blocked in an embryonic stage of development. GGCC originates from either germ cell neoplasia in situ (testicular environment) or gonadoblastoma (ovarian-like environment). These precursors are characterized by presence of the markers OCT3/4 (POU5F1), SOX17, NANOG, as well as TSPY, and cKIT and its ligand KITLG. One of the aims is to stratify individuals with an increased risk based on other parameters than histological investigation of a gonadal biopsy. These might include evaluation of defined susceptibility alleles, as identified by Genome Wide Association Studies, and detailed evaluation of the molecular mechanism underlying the DSD in the individual patient, combined with DNA, mRNA, and microRNA profiling of liquid biopsies. This review will discuss the current opportunities as well as limitations of available knowledge in the context of predicting the risk of GGCC in individual patients.en_US
dc.identifier.citationLooijenga, L., Kao, C. S., & Idrees, M. T. (2019). Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology. International journal of molecular sciences, 20(20), 5017. doi:10.3390/ijms20205017en_US
dc.identifier.urihttps://hdl.handle.net/1805/21802
dc.language.isoen_USen_US
dc.publisherMDPIen_US
dc.relation.isversionof10.3390/ijms20205017en_US
dc.relation.journalInternational journal of molecular sciencesen_US
dc.rights.urihttps://creativecommons.org/licenses/by/4.0*
dc.sourcePMCen_US
dc.subjectGerm cell canceren_US
dc.subjectDevelopmental pathogenesisen_US
dc.subjectIndividual risk assessmenten_US
dc.subjectPredictionen_US
dc.subjectDisorders of sex developmenten_US
dc.titlePredicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biologyen_US
dc.typeArticleen_US
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