Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling

Cools, Martine; Wolffenbuttel, Katja P.; Hersmus, Remko; Mendonca, Berenice B.; Kaprova, Jana; Drop, Stenvert L. S.; Stoop, Hans; Gillis, Ad J. M.; Oosterhuis, J. Wolter; Costa, Elaine Maria Frade; Domenice, Sorahia; Nishi, Mirian Yumie; Wünsch, Lutz; Quigley, Charmian A.; T’Sjoen, Guy; Looijenga, Leendert H. J.

doi:10.1093/humrep/dex300

Cited by 65 publications

(59 citation statements)

References 32 publications

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“…However, in 2 out of 142 women (1.4%) who had gonadectomy, a histological diagnosis of GCNIS was established according to the case files. This number has to be interpreted with caution as detailed histopathological findings of the gonadal tissue were only provided for 8 women, including the 2 who had GCNIS, but it is in line with recently reported data [18, 19]. Although the risk of GGCC may be small, monitoring abdominal gonads for early neoplastic changes in those who decline gonadectomy is challenging.…”

Section: Discussionmentioning

confidence: 62%

“…It is possible that the testes were located too high for successful orchidopexy in some men, which could (partially) explain the high gonadectomy rate. Although a higher GGCC risk was initially reported in PAIS compared to CAIS [7, 8], a more recent study did not confirm such findings [18]. …”

Section: Discussionmentioning

confidence: 97%

“…However, it is unclear to what extent these lesions will show invasive progression later in life [16, 18-20, 26-28]. To the best of our knowledge, no invasive GGCC had occurred so far in the 166 adult women included in our survey.…”

Section: Discussionmentioning

confidence: 99%

“…In the series of Deans et al [16], 15% of adult women with CAIS declined gonadectomy for various reasons, posing challenges to the medical management as no reliable tumour markers or imaging techniques for the detection of early neoplastic lesions in abdominal gonads are currently available [17]. A study from Cools et al [18] in a relatively large sample ( n = 52) systematically explored the prevalence of GCNIS and even earlier histological changes. This study revealed a prevalence of preneoplastic changes, i.e., changes hypothesised to precede the development of GCNIS, of around 10% in young adult women (median age 17.5 years) with CAIS, with no GCNIS or invasive lesions.…”

Section: Introductionmentioning

confidence: 99%

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Management of Gonads in Adults with Androgen Insensitivity: An International Survey

et al. 2018

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Background: Complete and partial androgen insensitivity syndrome (CAIS, PAIS) are associated with an increased risk of gonadal germ cell cancer (GGCC). Recent guidelines recommend gonadectomy in women with CAIS in late adolescence. Nevertheless, many adult women prefer to retain their gonads. Aims: This study aims to explore attitudes towards gonadectomy in AIS in centres around the world, estimate the proportion of adults with retained gonads and/or who developed GGCC, and explore reasons for declining gonadectomy. Methods: A survey was performed among health care professionals who use the International DSD Registry (I-DSD). Results: Data were provided from 22 centres in 16 countries on 166 women (CAIS) and 26 men (PAIS). In CAIS, gonadectomy was recommended in early adulthood in 67% of centres; 19/166 (11.4%) women refused gonadectomy. Among 142 women who had gonadectomy, evidence of germ cell neoplasm in situ (GCNIS), the precursor of GGCC, was reported in 2 (1.4%) out of 8 from whom pathology results were formally provided. Nine out of 26 men with PAIS (34.6%) had retained gonads; 11% of centres recommended routine gonadectomy in PAIS. Conclusion: Although development of GGCC seems rare, gonadectomy after puberty is broadly recommended in CAIS; in PAIS this is more variable. Overall, our data reflect the need for evidence-based guidelines regarding prophylactic gonadectomy in AIS.

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Section: Discussionmentioning

confidence: 62%

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Management of Gonads in Adults with Androgen Insensitivity: An International Survey

et al. 2018

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“…The exact impact of these SNPs and their relevance in the context of DSD is still largely unknown. A recent study from our group found insufficient discriminatory value in SNPs to be used in clinical decision making so far, although interesting correlations were identified [Cools et al, 2017].…”

Section: Genetics: Snps and Gcc Of The Testismentioning

confidence: 95%

Histological Assessment of Gonads in DSD: Relevance for Clinical Management

Spoor

Oosterhuis²,

Hersmus³

et al. 2017

Sex Dev

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Malignant gonadal germ cell tumors, referred to as germ cell cancers (GCC), occur with increased frequency in individuals who have specific types of differences (disorders) of sex development (DSD). Recent population-based studies have identified new environmental and genetic risk factors that have led to a ‘genvironment' hypothesis, which may potentially be helpful in risk assessment in DSD-related GCC. In DSD, the malignancy risk is highly heterogeneous, but recent studies allow now to discriminate between high- and low-risk conditions. Gonadal biopsy is in some cases the best procedure of choice to assess the risk, and with the availability of immunohistochemical biomarkers [OCT3/4 (POU5F1), TSPY, SOX9, FOXL2 and KITLG (SCF)], a reliable classification of GCC and its precursors can be made. The opportunities in the field of virtual diagnostic pathology will be presented, having possibilities for rare diseases in general and DSD specifically. It is expected that the International DSD Registry will stimulate international collaborations, facilitating better diagnostic procedures as well as research.

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Current surgical approach: Extracranial malignant germ cell tumors

Rich,

Weil,

Thaker

et al. 2024

Pediatric Blood & Cancer

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Germ cell tumors (GCT) are a complex, heterogeneous collection of tumors that may present in either gonadal or extragonadal sites. They consist of a variety of benign and malignant histologies that can occur at several locations throughout the body. An important component of treatment is surgical resection, and while the key components of resection are site specific, the universal goals of GCT resection include the complete resection of tumor without violating the tumor capsule, while preserving function of surrounding organs, minimizing morbidity, and assessing for regional spread.

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Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling

Cited by 65 publications

References 32 publications

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

Histological Assessment of Gonads in DSD: Relevance for Clinical Management

Current surgical approach: Extracranial malignant germ cell tumors

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