DICER1  hotspot mutations in ovarian Sertoli-Leydig cell tumors: a potential association with androgenic effects

Kato, Noriko; Kusumi, Tomomi; Kamataki, Akihisa; Tsunoda, Rikiya; Fukase, Masayuki; Kurose, Akira

doi:10.1016/j.humpath.2016.09.005

Cited by 36 publications

(54 citation statements)

References 19 publications

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“…We have reported previously that DICER1 mutation in SLCT was associated with the reduced expression of CYP19A1 (aromatase) that controls oestrogen synthesis from testosterone and differentiation of somatic cell lineages in the ovary . A recent report also confirmed that DICER1 mutation is associated with an increased testosterone level in patients with ovarian SLCT . Therefore it is plausible that, by decreasing aromatase expression and/or skewing global gene expression, DICER1 mutation alters the fate of the cell of origin (e.g.…”

Section: Discussionmentioning

confidence: 97%

DICER1 hot‐spot mutations in ovarian gynandroblastoma

Wang

Karnezis

Magrill³

et al. 2018

Histopathology

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Section: Discussionmentioning

confidence: 97%

DICER1 hot‐spot mutations in ovarian gynandroblastoma

Wang

Karnezis

Magrill³

et al. 2018

Histopathology

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“…The discovery of this association led to a landmark sequencing study in 2012 that identified somatic missense mutations in the RNase IIIB domain of DICER1 in a majority of ovarian SLCTs . Subsequent studies have confirmed that somatic or germline mutations of DICER1 constitute a common signature of ovarian SLCTs . The practical implications for pathologists include the diagnostic role for DICER1 mutation testing in tumours with a differential diagnosis that includes SLCT, and the screening role of molecular testing to triage patients with SLCT for genetic counselling and formal risk assessment for DICER1 syndrome.…”

Section: Slct and Dicer1mentioning

confidence: 99%

“…DICER1 mutation appears to be restricted to moderately or poorly differentiated tumours (Figure B); no mutations have been reported in well‐differentiated SLCTs, although only 12 cases of well‐differentiated SLCT have been evaluated to date . There are conflicting data on whether or not the presence of heterologous elements and/or retiform growth is associated with DICER1 mutation status . A direct comparison of clinical outcomes based on DICER1 mutation status was performed in one study .…”

Section: Slct and Dicer1mentioning

confidence: 99%

“…The same DNA input requirements and tumour cellularity requirements apply. Rather than looking for a single recurrent missense change, however, several missense changes within the RNase IIIB domain (E1705K, D1709N, E1813K, and E1813A) have been described in SLCTs . Consequently, one must select an assay that covers all of these potential hotspots.…”

Section: Slct and Dicer1mentioning

confidence: 99%

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Practical roles for molecular diagnostic testing in ovarian adult granulosa cell tumour, Sertoli–Leydig cell tumour, microcystic stromal tumour and their mimics

2019

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Within the last decade, molecular advances have provided insights into the genetics of several ovarian sex cord–stromal tumours that have otherwise been enigmatic. Chief among these advances are the identification of FOXL2, DICER1 and CTNNB1 mutations in adult granulosa cell tumours, Sertoli–Leydig cell tumours (SLCTs), and microcystic stromal tumours (MCSTs), respectively. As access to molecular diagnostic laboratories continues to become more widely available, the potential roles for tumour mutation testing in the pathological diagnosis of these tumours merit discussion. Furthermore, links to inherited cancer susceptibility syndromes may exist for some women with SLCT (DICER1 syndrome) and MCST [familial adenomatous polyposis (FAP)]. This review will address practical issues in deciding when and how to apply mutation testing in the diagnosis of these three sex cord–stromal tumours. The pathologist's role in recommending referral for formal risk assessment for DICER1 syndrome and FAP will also be discussed.

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“…Recent data emphasize the risk of development of thyroid disease in SLCT survivors, particularly thyroid carcinoma. This is attributed to association of SLCT with DICER1 mutations (14,15). Kato et al (14) demonstrated that SCLT patients, carriers of DICER1 mutations are younger, with marked virilization and heterologous components in tumor, compared to DICER1 wildtype SLCT patients.…”

Section: Discussionmentioning

confidence: 99%

Severe virilization in adolescent girl with Sertoli-Leydig cell tumor – case report and review of the literature

Krnić

Putarek

Kubat

et al. 2018

CEJP

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Objective -The aim was to report a case of a 17-year-old girl with marked virilization and secondary amenorrhea due to androgen producing Sertoli-Leydig cell tumor (SLCT). We also provided a brief review of the literature with insight into clinical picture, pathological features and treatment of patients with this rare tumor. Case report − We present a 17-year-old girl with SLCT, who developed clinical symptoms of severe virilization. The tumor secreted testosterone and alpha fetoprotein (AFP). The imaging revealed tumor of the right ovary which histologically corresponded to intermediate-grade SLCT with low mitotic rate. Furthermore, it was stage IA according to International Federation of Gynecology and Obstetrics. Laparoscopic right salpingo-oophorectomy was preformed, resulting in regression of virilization symptoms and normalization of serum testosterone and AFP levels. Conclusion − Due to rarity of SLCT in children and adolescents, gathering information from available case reports is necessary to establish guidelines regarding optimal management, including type of surgery and adjuvant chemotherapy. New knowledge regarding related diseases in SLCT survivors emphasize the need for long-term follow up of these patients.

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DICER1 hotspot mutations in ovarian Sertoli-Leydig cell tumors: a potential association with androgenic effects

Cited by 36 publications

References 19 publications

DICER1 hot‐spot mutations in ovarian gynandroblastoma

DICER1 hot‐spot mutations in ovarian gynandroblastoma

Practical roles for molecular diagnostic testing in ovarian adult granulosa cell tumour, Sertoli–Leydig cell tumour, microcystic stromal tumour and their mimics

Severe virilization in adolescent girl with Sertoli-Leydig cell tumor – case report and review of the literature

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